Personal History Research Articles

Depression among Alopecia Areata Patients: Prevalence and associated factors in a Tunisian sample.

Introduction Alopecia areata (AA) is a common, chronic inflammatory, non-scarring form of hair loss affecting 0.1-0.2% of the population. It is a psychosomatic disease involving a T-cell-mediated immune reaction against hair follicle antigens during the anagen phase. Psychiatric morbidity in dermatological patients can significantly affect their quality of life and disease progression. Identifying and addressing these comorbidities in AA patients is crucial. Aim This study aimed to estimate the prevalence of depression and its associated factors among patients diagnosed with alopecia areata (AA). Methods The present study is a cross-sectional, descriptive, and analytical study conducted at Farhat Hached Hospital in Sousse, Tunisia, during the period from August to December 2019. Participants were recruited from the Dermatology Outpatient Department. The questionnaire covered socio-demographic characteristics, personal and family history, AA history, clinical presentation, disease severity (SALT score), nail involvement, and depression assessment using the Hamilton Depression Scale (validated Arabic version). Results A total of 60 AA patients were enrolled, with a mean age of 37.6 ± 12.9 years. Females exhibited a predominant representation, with a male to female ratio (M/F) of 0.76. According to the Hamilton Depression Scale (HAM-D), 31 cases (51.7%) were depressed, with a mean depression scale score of 11.33 (±6.57 SD). The presence of depression was significantly associated with younger age (p=0.018), the presence of the eyelashes/eyebrows form (p=0.035), nail involvement (p= 0.03), and a poor response to treatment (p=0.004). Conclusion Our research highlights the importance of providing psychological support to alopecia areata patients.

8184 A Case With Primary Hyperparathyroidism Caries A New Variant Of Uncertain Significance (VUS) Of The Multiple Endocrine Neoplasia Type 1 (MEN1) Gene

Abstract Disclosure: E. Caliskan Guzelce: None. E. Fieg: None. C. Pallias: None. Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. MEN1 syndrome is classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells. However, the clinical spectrum of this disorder has been expanded: carcinoid tumors,adrenal adenomas and lipomas are more common than in the general population.We report a case whose personal and family history is highly suggestive of and consistent with a monogenic disorder such as MEN1, also found to be a carrier of a new variant of uncertain significance (VUS) of the MEN1 gene. A study performed with the French Universal Mutation Database (UMD) for the MEN1 gene showed that one-third of the missense MEN1 variants were VUSs, mainly due to the lack of clinical and segregation data. Therefore, it is very important to identify and report the subjects with VUS of the MEN1 gene. Case report: 68-year-old female with a past medical history significant for hypertension, type 2 diabetes mellitus, hyperlipidemia, CKD stage 4, and nephrolithiasis, GERD who presented with chief complaints of nausea and upper abdominal/epigastric pain and dark stools and found to have moderate hypercalcemia c/w primary hyperparathyroidism, several pancreatic cystic lesions most likely branch duct intraductal papillary mucinous neoplasms, and multinodular goiter and adrenal adenoma. Family history significant for recurrent hyperparathyroidism and nephrolithiasis; her daughter and brother had nephrolithiasis; her daughter has undergone parathyroidectomy twice. The patient's mother died at a young age because of gastric ulcer-related complications. Hyperparathyroidism-related genes were analyzed; AP2S1, CASR, CDC73, CDKN1B, GNA11, RET, MEN1, and only a Variant of Uncertain Significance, c.247_249dup (p.Leu83dup), was identified in MEN1 gene. The patient’s daughter and granddaughter are found to have the same mutation. Conclusion: This variant, c.247_249dup, results in the insertion of 1 amino acid(s) of the MEN1 protein (p. Leu83dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). The literature has not reported this variant in individuals affected with MEN1-related conditions. Presentation: 6/3/2024

9365 Now You See Me: The Case Of The Ectopic Thyroid

Abstract Disclosure: S.I. Suarez: None. S.K. Majumdar: None. Introduction: Lingual thyroid refers to ectopic thyroid tissue located at the base of the tongue or within the thyroglossal tract secondary to failed descent to its usual site (1). Ninety percent of ectopic thyroid glands are found at the base of the tongue and can occur in 1 in every 100,000 patients (2, 3). Clinical presentations commonly relate to obstruction of the oropharynx, and patients may experience dysphagia or throat fullness/discomfort (1). We present a case of lingual thyroid presenting as dysphagia and progressive hypothyroidism. Case: A 38-year-old woman with a history of HLD and hypothyroidism was referred for evaluation of ectopic thyroid tissue. She presented to her provider for concerns of dysphagia, neck swelling, and excessive hair thinning/loss. She had a recent increase in levothyroxine dose from 112 to 125 mcg after a TSH of 20.4 (0.27 to 4.2 uIU/mL). Repeat tests showed a TSH of 29.4 and a free T4 level of 0.79 (0.8 to 1.7 ng/dL). She denied use of thyrotoxic medications, any radiation or surgeries to head or neck, personal or family history of autoimmune disorders. Thyroid was nonpalpable on exam. A thyroid US 5 years prior showed a 15 x 5 x 5 mm right lobe and 12 x 8 x 5 mm left lobe. CT scan of soft tissue of neck with contrast showed a 14 x 13 x 15 mm hyperintense nodular lesion midline along the anterior glossoepiglottic fold at the foramen cecum, with an 8 x 11 x 8 mm hyperintense nodular lesion at midline abutting the anterior body of the hyoid bone, and no thyroid tissue in the expected thyroid bed, findings consistent with ectopic thyroid tissue along the expected thyroglossal duct. Furthermore, an I-123 scan with SPECT confirmed the ectopic thyroid tissue. What was thought to be thyroid lobes on previous thyroid US was likely paratracheal fat. Levothyroxine was increased to 137 mcg per day with improvement at 2 months (TSH 10.4, Free T4 0.91). Adjusting levothyroxine replacement was the primary intervention, given that elevated TSH may result in hypertrophy of lingual thyroid tissue resulting in dysphagia, particularly if there is no mass or suspicion of cancer on imaging. Conclusion Hypothyroidism presenting with dysphagia in the absence of goiter, previous thyroid surgery, or detectable thyroid tissue should warrant consideration of ectopic thyroid tissue and initial therapy should be directed towards normalizing TSH in conjunction with excluding malignant causes.

6487 Hypercalcemia In Pregnancy Due To An Ectopic Parathyroid Adenoma: A Diagnostic Dilemma

Abstract Disclosure: S.S. Patel: None. M.B. Sharma: None. Introduction: Hypercalcemia is a rare complication of pregnancy, with the most common cause being primary hyperparathyroidism due to a parathyroid adenoma. Ultrasound is the primary modality used for localization, as sestamibi and computed tomography (CT) carry the risk of potential harm to the fetus. We present the case of hypercalcemia in a pregnant female that failed to resolve after two gland parathyroidectomy, necessitating a sestamibi parathyroid scan to localize an ectopic parathyroid adenoma. Case: A 40-year-old pregnant woman at 12 weeks of gestation presented with hypercalcemia, with a corrected calcium level of 12.5 mg/dL (8.7-10.4 mg/dL). She complained of nausea and vomiting but denied any personal or family history of hypercalcemia. Further evaluation revealed primary hyperparathyroidism as the etiology, with Intact PTH of 429.2 pg/mL (18.5-88.0 pg/mL), ionized calcium of 1.45 mmol/L (1.12-1.32 mmol/L), 25-OH vitamin D of 16.4 ng/mL (30-100 ng/mL), phosphorus of 1.3 mg/dL (2.4-5.1 mg/dL), and creatinine of 0.71 mg/dL (0.5-0.8 mg/dL). Notably, her calcium level had been 19.2 mg/dL two weeks earlier during an episode of hyperemesis gravidarum. Hypercalcemia proved relatively resistant to treatment with intravenous hydration and subcutaneous calcitonin. Ultrasound of the neck failed to reveal a parathyroid adenoma. The patient then underwent surgical neck exploration, during which two parathyroid glands were removed, resulting in an intraoperative PTH drop from 440 to 340 pg/mL. Postoperative calcium levels remained elevated at 12.9 mg/dL, prompting the resumption of treatment. Oral sodium and potassium phosphate was added to bind dietary calcium. After an extensive multidisciplinary discussion, a 99mTc-sestamibi parathyroid scan with a lower dose of sestamibi and without CT was recommended. This revealed an ectopic parathyroid adenoma in the anterior mediastinum. Surgical removal of the ectopic parathyroid adenoma in the second trimester finally led to a significant intraoperative PTH drop from 315 to 28 pg/mL. The postoperative course was complicated by hypocalcemia and hypomagnesemia, requiring calcium, vitamin D, and magnesium supplements. These complications resolved over the following days. The patient remained normocalcemic for the remaining pregnancy and delivered a healthy male infant at 34 weeks. Conclusion: Hypercalcemia in pregnancy is associated with fetal and maternal complications, warranting adequate management and close follow-up. The use of 99mTc-sestamibi parathyroid scan is typically not recommended in pregnancy due to concern for fetal harm; however, there are a few studies showing no association with increased birth defects or adverse pregnancy outcomes at low radiotracer doses. Hence, a sestamibi parathyroid scan can be considered during pregnancy to localize an adenoma after a careful review of the benefits versus risks. Presentation: 6/2/2024

6661 Critical Limb Ischemia - An Unusual Presentation Of A Pheochromocytoma

Abstract Disclosure: S. Hassan: None. Background: Pheochromocytomas can lead to vasoconstriction and its various clinical manifestations due to excess catecholamine release. Critical limb ischemia as a clinical manifestation of pheochromocytoma has been reported sparsely. Clinical Case: A 43 year old female with a past medical history of type 2 diabetes mellitus, Turner syndrome, and hypertension presented to the emergency department with acute on chronic left leg pain. She underwent workup with a CT angiography of the abdomen with runoff for evaluation of her vessels, which revealed an occlusion of her left superficial femoral artery with chronic stenosis of the right femoral system. Multiple unsuccessful attempts were made at revascularization of her left lower extremity, including femoropopliteal bypass, with eventual left above knee amputation, multiple fasciotomies, and angiogram and stenting of multiple vessels. The patient was on a combined OCP (norethindrone-ethinyl estradiol) for hormone replacement for Turner syndrome for the past 30 years, and did not have a personal or family history of clotting disorders. She underwent a hypercoagulable workup which was negative. Echocardiogram was negative for thrombi and was otherwise unremarkable. Incidentally discovered on her initial CT angiography was a heterogeneously enhancing right adrenal mass, which was further delineated on a dedicated CT of the adrenals, which showed a 3.7 cm right adrenal mass with pre-contrast Hounsfield units measuring 46. Biochemical workup revealed a normal plasma renin activity and aldosterone, plasma metanephrine elevated to 5.20 nmol/L (range 0.00 – 0.49 nmol/L), plasma normetanephrine elevated to 4.95 nmol/L (range 0.00 – 0.89 nmol/L), 24 hour urine metanephrine elevated to 3830 ug/d (range 36-229 ug/d), and 24 hour urine normetanephrine 1733 ug/d (range 95 – 650 ug/d). She reports a diagnosis of hypertension at age 36, with no secondary workup pursued; she had suboptimal control on three separate medications, lisinopril, metoprolol, and hydrochlorothiazide. Her blood pressure and heart rate were noted to be labile during her aforementioned surgery. Alpha blockade with doxazosin was started based on her significantly elevated plasma and urine metanephrines and normetanephrines, with improvement in her blood pressure control. She was not found to have a definitive cause of her critical limb ischemia; she was noted to have atherosclerosis in the vessels of her lower extremities, and her chronic oral contraceptive use may also have played a role. However, OCPs are often reported to cause venous rather than arterial thrombi. Therefore, it can be inferred that the catecholamine excess from her presumed pheochromocytoma caused vasoconstriction which may have played a role in the development of her critical limb ischemia. Conclusion: Catecholamine excess that is resultant from a pheochromocytoma may manifest as critical limb ischemia. Presentation: 6/1/2024

6980 A Case Report Of Severe Hypercalcemia In Acute Decompensated Liver Cirrhosis

Abstract Disclosure: M.M. Eid: None. R.M. Sargis: None. Introduction: Hypercalcemia in advanced liver disease in the absence of malignancy is a rare condition. Case: A 26 year old female with history of liver cirrhosis secondary to alcohol use disorder, presented with hematemesis and ascites. She was diagnosed with acute decompensated liver cell failure and transferred to our facility for liver transplantation. On Day 10 of her hospital course, she had an acute rise in serum calcium (Ca) to 10.8 mg/dl (N 8.7-10.5),albumin (Alb) 2.6 g/dl, corrected calcium (CCa) 11.9mg/dl. On day 13 Ca peaked to 13.5 mg/dl, CCa 14 mg/dl, ionized Ca 6.5mg/dl (N 4.2-5.4 mg/dl). Serum Ca was normal on day 9, Ca 8.7mg/dl, Alb 2.5 g/dl and CCa 9.9 mg/dl. She was not taking lithium, vitamin A or antacid. No personal or family history of bone disorder, fracture or kidney stone. On exam, blood pressure 85/45, heart rate 110 bpm, jaundiced with abdominal distension and respiratory distress. Labs: hemoglobin 8.1 g/dl, WBC 32.5K/Ul, platelet 136 K/Ul, serum creatinine 1.82 mg/dl, Na 133 mmol/l, K 3.5 mmol/l, Total/Direct bilirubin 29.9/18.1 mg/dl, alkaline phosphatase 166 U/L, AST/ALT 60/42U/l, Mag 2.3 mg/dl, Phos 5 mg/dl, INR 3, PTT 50 sec, parathyroid hormone (PTH) 12 pg/ml (N12-88), TSH 1.02 mciu/ml (N 0.34-4), 25 hydroxy vitamin D 17 ng/ml (N 20-80), parathyroid related peptide (PTHrP) 3.9 pmol/l (N<3.4), 1,25 di-hydroxy vitamin D 9.8 pg/ml (N 19.9-79.3), alpha fetoprotein 9.1 ng/ml (N <9). Normal anti smooth muscle and anti mitochondrial antibodies. Negative viral hepatitis serology. CT abdomen did not reveal hepatobiliary mass or tumor nor kidney stone. She was intubated and mechanically ventilated. Vasopressor support was initiated. One dose of calcitonin 4 units/kg and zoledronic acid 4 mg were given. Serum Ca decreased to 12 mg/dl, CCa 12.6 mg/dL then to 10.2 mg/dl, CCa 11mg/dl within hrs. Calcium normalized to 8.4mg/dl, CCa 9.2 mg/dl, ionized Ca 4.3 mg/dl within 24 hrs. Her condition deteriorated and withdrawal of care was decided. Conclusion: Our case demonstrates non PTH and non vitamin D mediated severe hypercalcemia in setting of acute decompensated cirrhosis and absence of malignancy. Previous literature has noted poor prognosis of hypercalcemia with acute decompensated cirrhosis. While hypercalcemia in cirrhosis may arise from paraneoplastic processes, in absence of malignancy it is speculated that acute hypercalcemia may arise from the inflammatory mediators inducing osteoclastic bone resorption as osteoclast activating factor, prostaglandin and immobilization. Some reports found an association between hypercalcemia and elevations in bilirubin and creatinine(1). Further research is needed to understand the pathophysiology and the management of hypercalcemia in acute decompensated cirrhosis.

8070 Atypical New Onset Diabetes Mellitus in a Young Male: Is this LADA vs Type 1 or Type 2?

Abstract Disclosure: S.K. Devineni: None. S. Shaik: None. J.L. Gilden: None. Background: Recent literature suggests that autoantibody seropositivity is common in new onset autoimmune Diabetes Mellitus (DM), especially in younger patients. Latent autoimmune diabetes of adults (LADA), a form of adult-onset autoimmune DM. is considered a mix of type 1 and type 2 DM, sharing similar immune cell characteristics to both subtypes. Unlike type 1, LADA patients do not require insulin for glycemic control for the first six months after diagnosis. Unlike type 2, LADA patients are positive for single islet autoantibody, glutamic acid decarboxylase (GAD), and anti-gliadin antibodies. Patients with LADA often present with symptoms (polyuria, polydipsia, nocturia, fatigue, and visual changes). We present a case of new onset Diabetes Mellitus in a young male, autoantibody seronegative, at the time of diagnosis. Case report: A 19-year-old Caucasian male was sent to the Emergency Department with a serum blood glucose (BG) level of 579 mg% after routine blood tests. He denied any clinical symptoms and serum levels showed no elevation in ketones, nor bicarbonate levels, ruling out ketoacidosis. His hemoglobin A1c at that time was 14.7%. He denied prior knowledge of personal or family history of DM. or other autoimmune disorders. However, it was discovered that routine labs done 1 ½ months earlier on a Health Screen revealed BG=295 mg% with urine positive for ketones (80 mg/dl) and glucose (>1000 mg/dL). Physical Exam: (HT=178 cm; WT=79 Kg) was unremarkable. Autoantibodies for GAD 65, islet-cell, Zinc transporter 8, and Islet Antigen 2 were all negative. He was hospitalized for 9 days. BG levels were difficult to control and required increasing doses of both long acting and short acting insulin. He was discharged with insulin therapy (30 units of glargine at nighttime and 12 units of premeal aspart). One week later, the patient ate several gummy bears as a nighttime snack and subsequently woke up in the middle of the night feeling shaky and having blurry vision. BG was greater than 300 mg%. In the emergency room, he. received intravenous fluids. No insulin was given as his BG normalized and he was discharged. Later, a continuous glucose monitor revealed multiple hypoglycemic episodes. The patient was living in a situation where he only had limited access to certain foods, and thus his insulin regimen was decreased (28 units glargine and 10 units aspart for meals) Conclusion: We present the case of new onset atypical DM in a young patient whose insulin sensitivity and risk factors seem to resemble a pattern of type 1 DM; despite seronegative autoantibodies We predict that he may eventually seroconvert to type 1 DM. It is also possible that he may have an unusual presentation of LADA or type 2 DM, although he had no hyperglycemic symptoms. Presentation: 6/3/2024

8557 Osteitis Fibrosa Cystica as the Initial Manifestation of Severe Primary Hyperparathyroidism: A Case Report

Abstract Disclosure: L.A. Robles Gomez: None. G. Gill: None. A. Vincent, DO: None. A. Mahmoud, MD: None. Introduction: Osteitis fibrosa cystica (OFC) is a pathognomonic yet uncommon finding of hyperparathyroidism seen in less than 2% of patients with primary hyperparathyroidism in Western countries. We present a case of infrequent finding of late-stage severe hyperthyroidism with asymptomatic hypercalcemia and incidental findings of osteolytic bone lesions. Clinical Case: A 28-year-old female with a history of PCOS, fatigue, and chronic abdominal pain presents to the clinic after recent work-up during an ED visit demonstrated incidental findings of osteolytic bone lesions in the setting of mild hypercalcemia. Physical examination was relatively unremarkable except for mild tenderness to palpation on the right lower quadrant. Laboratory significant calcium 10.7 mg/dl (8.6-10.2 mg/dL), albumin 3.6 g/dL, Creatinine 0.56 mg/dL, GFR 127 mL/min, Alkaline phosphatase 187 IU/L (37-127 IU/L), AST 24 IU/L, ALT 45 IU/L, Intact PTH and calcium: PTH 413 pg/mL (15-65 pg/mL), Calcium 11.5 (8.7-10.4 mg/dL), Bone Specific Alkaline Phosphatase: 54.5 mcg/L (4.7-17.8 mcg/L), Phosphorus 2.1 mg/dL (2.4-4.8 mg/dL), Magnesium 1.7 mg/dL (1.5-2.5 mg/dL), Vitamin D 25 10 mg/mL (20-100 ng/mL), TSH 2.12 uIU/mL (0.46-5.05 uIU/mL). CT abdomen pelvis w/o contrast with multiple predominantly lytic expansile bone lesions, mainly in the pelvis, with the most extensive 6.2 cm lesion in the superior, posterior right ilium, the anterior acetabulum, and the posterior right ischium. A prior CT done in 2018 showed a similar distribution of lytic lesions. The patient denied any previous personal or family history of hypercalcemia or parathyroid abnormalities despite a review of prior outside records revealed abnormal labs dating back to 2018 with intact PTH 406 pg/mL, calcium 10.3 mg/dL, Ionized calcium 10.7 mg/dl (3.30-6.0 mg/dL), albumin 3.3g/dL, alkaline phosphatase 288 IU/L. The patient denied prior symptomatology of hypercalcemia, including renal stones, or prior treatment for hypercalcemia. Further work-up was ordered, and the patient was referred to endocrine surgery for management. Conclusion: Osteitis fibrosa cystica (OFC) has become a rare manifestation of primary hyperparathyroidism (PHPT) due to early diagnosis of hypercalcemia by routine lab monitoring. Skeletal findings typically seen on PHPT can vary from bone reabsorption-acroosteolysis, subchondral bone resorption, brown tumors, salt-and-pepper skull, and osteopenia. Subchondral reabsorption around specific joints commonly affects pubic symphysis and sacroiliac joints, as seen in our patient. The mechanism is due to PTH-mediated osteoclastic absorption of bone and surrounding cartilage. Due to the rare presentation of PHPT with associated osteitis fibrosa cystica, diagnosis requires a high degree of clinical suspicion, as delayed diagnosis can lead to avoided manifestation, as described by our report. Presentation: 6/3/2024

6556 Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos-Syndrome?

Abstract Disclosure: S. Azmat: None. U. Rafat: None. J.L. Gilden: None. Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos Syndrome? Background: Hypothyroidism is well-known to be associated with muscle weakness and fatigue. There are other etiologies for decreased muscle tone such as Ehlers-Danlos syndrome (EDS) which is group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility. Other rheumatological and cardiac conditions associated with this syndrome can pose diagnostic challenges. We present case of 32-year-old female presenting with facial muscle weakness and newly diagnosed Hashimoto’s hypothyroidism. We highlight importance of keeping EDS as another differential in patients with muscle weakness allowing for accurate, prompt diagnosis and treatment to be done in timely manner. Case Description: A 32-year-old female professional musician was referred to Endocrine for mouth muscles weakness and decreasing ability to play her French Horn wind instrument with vocal dystonia and the question of whether these were symptoms of hypothyroidism. She was noted to have mild thyroid enlargement and abnormal thyroid function tests with positive thyroid antibodies. Initial TSH was 7.506 uIU/mL(0.55-4.78), free T4 0.9 ng/dL (0.76-1.46), peroxidase antibody = 96,061U/mL (0-60) and thyroglobulin of 134.9 U/mL (0-60). She also reported low energy, intermittent difficulty swallowing and decreased muscle strength. There was no prior personal and family history of hypo/hyperthyroidism or any other disorders. VS were normal, physical exam showe d no thyromegaly, reflexes revealed objective decrease but normal muscle strength. The skin was noted to be hyperextensible with passive hyperextension of fifth metacarpophalangeal joint beyond 90 degrees, thumb to flexor aspect of forearm and elbows bilaterally with positive Beighton criteria for EDS. She later admitted to intermittent palpitations and easy bruising. Subsequent lab tests were negative ANA, anti-mitochondrial, PCEL and striated muscles antibodies. Additionally she had normal IGA, PTH, AM cortisol- ACTH, vitamin B12 levels with negative 21 hydroxylases antibodies and celiac titers. She was started on levothyroxine 25 mcg and recommended for Cardiology evaluation and genetic testing. Physiotherapy was started. Upon six months follow-up she clinically felt better with improved muscle strength, swallowing and energy level. Repeat lab testing showed improved TSH of 2.67 uIU/mL(0.55-4.78) with free T4 of 1.0 ng/dL (0.76-1.46). Conclusion: This case demonstrates that although muscle weakness can be symptom of hypothyroidism one must evaluate all patients for other possible causes. We highlight importance of keeping EDS as a differential especially in female patients with muscle weakness. Though history and physical exam is crucial allowing for prompt diagnosis and treatment for other conditions. Presentation: 6/1/2024

12205 Challenging Case Of Anaplastic Thyroid Cancer With Unusual Histological Features: A Diagnostic Dilemma With High Grade Sarcoma

Abstract Disclosure: B. Gautam: None. B. Tiwari: None. M.S. Hossain: None. S. Hossain: None. S.C. Kumar: None. H. liao: None. Introduction: Anaplastic thyroid carcinoma (ATC) is a rare but highly aggressive thyroid cancer accounting for < 2% of cases, characterized by its rapid growth, extensive local invasion, and poor prognosis. Distinguishing ATC from other high-grade sarcomas, such as leiomyosarcoma, is challenging due to shared morphological features and overlapping immunoprofiles. We present a case involving a 73-year-old male presenting with rapidly growing neck mass, leading to diagnostic challenges differentiating between ATC and high-grade sarcomas. Case presentation: A 73-year-old male presented to ED with a rapidly growing painful neck mass for last 3 months, associated with dysphagia, dyspnea & dysphonia. He denied any fever, chills, weight loss and symptoms of hyperthyroidism or hypothyroidism. No personal or family history of thyroid cancer. On physical exam: vitals were normal, Neck exam revealed a left sided neck mass, mobile with deglutition, hard in consistency associated with hoarseness of voice. No stridor or wheeze noted on auscultation. Physical exam was otherwise normal. Laboratory tests showed normal CBC, CMP and TSH 1.45 mIU/L, T4 9.7 ug/dl. CT neck with contrast showed 5.4 x 5.6 x 8.2 cm large lobulated left thyroid mass with rightward airway deviation & substernal extension. Ultrasonogram of thyroid showed 9.6 x 5.3 x 3.3 cm left thyroid lobe with internal calcifications & extrathyroidal extension with several abnormal appearing cervical lymph node, largest measuring 4.9 x 2.4 x 3.3 cm. CT chest/abdomen/pelvis with contrast showed multiple bilateral lung nodules measuring up to 1.5 cm and 1.4 x 1.3 cm left gluteal soft tissue mass. IR-guided left neck mass biopsy was suggestive of primary spindle cell neoplasm with initial immunoprofiles consistent with a high-grade sarcoma, favoring leiomyosarcoma. Given the rapid growth of the neck mass with associated dyspnea, left thyroidectomy was performed and surgical pathology was suggestive of a high-grade sarcoma. However, subsequent pathology review made a final diagnosis of ATC, based on morphologic & immunohistochemical profile showing tumor cells strongly positive for p53 and Desmin with few cells positive for PAX-8, Cam 5.2 and CD68, and negative thyroglobulin, TTF-1, CK7, CK20, CK MNF116, pancytokeratin AE1/AE3 and CK5/6. Thyroseq revealed a distinctive molecular profile specifically positive for TERT and TP53 supporting diagnosis of ATC. Discussion: This case highlights the diagnostic dilemma posed by the resemblance between ATC and high-grade sarcomas due to overlapping clinical, morphological and immunohistology features. While both malignancies may exhibit similar morphological features, specific immunohistochemistry profiles along with molecular testing aid in distinguishing between them and guiding appropriate treatment strategies. Presentation: 6/1/2024

6898 A Case Report Of Drug-Induced Liver Injury Secondary To Sublingual Estradiol In A Transgender Woman

Abstract Disclosure: F. Manas: None. E. Davydov: None. A. Caines: None. K. Estrada: None. J.E. Shill: None. Drug-induced liver injury (DILI), the leading cause of acute liver failure in the United States, occurs in response to a medication or natural compound. Estrogens can lead to idiosyncratic DILI. According to LiverTox [livertox.nih.gov], estrogen has a likelihood score of A (highly likely) to cause DILI, whereas spironolactone has a likelihood score of D (rare). The current formulations of estrogens usually produce a mixed or cholestatic pattern of liver enzyme elevations, however very early, the ALT levels can be markedly elevated (5- to 20-fold). One can be asymptomatic. Often the liver injury resolves after removing the offending agent. We present a case of DILI with elevations of both alanine transferase (ALT) and aspartate transferase (AST), secondary to sublingual estradiol (E2). A 23-year-old transgender female presented for feminizing gender-affirming care. She was started on sublingual E2 2 mg once daily and spironolactone 100 mg orally twice daily. Approximately 14 weeks later, sublingual E2 was increased to 2 mg twice daily for a below-target E2 level, and spironolactone was decreased to 50 mg twice daily due to gas and nausea. Routine blood work three weeks later showed elevated liver function tests (LFTs) in a hepatocellular pattern with ALT of 216 IU/L (normal:<52IU/L), AST of 223 IU/L (normal:<35 IU/L), with normal total bilirubin and alkaline phosphatase. LFTs were normal six months prior. At the time of liver injury, she had consumed six alcoholic beverages in the previous fourteen days, and two doses of acetaminophen. She had no personal history of autoimmunity and no family history of liver disease. Acute hepatitis screen was normal. Abdominal US with liver Doppler was unremarkable. E2 and spironolactone were discontinued. Evaluation by hepatology lead to a diagnosis of DILI from sublingual E2, based on the temporal relationship between initiation of E2 and LFT elevation. Other potential causes of elevated LFTs were excluded. Although she reported alcohol use, the AST/ALT elevation was not in a classic 2:1 pattern. Three weeks after cessation of E2 and spironolactone, her LFTs normalized. Spironolactone was resumed along with E2 by patch, but due to skin-adherence issues she was transitioned to injectable E2 valerate. Her LFTs have remained normal since. This case illustrates a rare but potentially dangerous adverse event of DILI secondary to sublingual E2. Due to the low incidence of liver injury in various studies of individuals with gender incongruence on hormone therapy, current evidence does not support routine liver enzyme monitoring. Clinicians should be aware of the potential risk of liver injury and counsel patients accordingly. As in this case, patients may be successfully rechallenged with the offending DILI medication. Further studies on different formulations of hormone therapy and their effects on the liver would be beneficial in this unique population. Presentation: 6/2/2024

8099 Pembrolizumab Induced Autoimmune Diabetes: An Abrupt Virulent Onset

Abstract Disclosure: H.F. Belal: None. N. Shaykh: None. A. Rajesh: None. J.M. Chehade: None. Background: Pembrolizumab is a programmed cell death protein 1 inhibitors (PD-1i) approved for the treatment of many solid cancers. Although thyroid abnormalities are among the most common endocrine adverse effects associated with PD-1i, insulin-dependent diabetes mellitus can also occur in up to 1% of patients treated with PD1-i.[1] Clinical Case: A 70-year-old female with past medical history of non-toxic multi-nodular goiter and surgical hypothyroidism was diagnosed with gastric cancer. She had no pancreatic abnormality on PET scan. Her management included four cycles of neo-adjuvant chemotherapy: fluorouracil, cisplatin, trastuzumab and pembrolizumab. She had no personal history of gestational diabetes. Prior to initiating neo-adjuvant chemotherapy her A1c was 5.9%. She was not prescribed any anti-diabetic medications. Her grandmother had type 2 diabetes mellitus. On exam her BMI was 23.73 kg/m². She had no acanthosis nigrans, skin tags or abdominal striae. Eighteen days after completing her second cycle of neo-adjuvant chemotherapy, she presented to the emergency department with nausea, vomiting, polyuria and confusion and was found to be in DKA. Her A1c during admission was 7.1%. Imaging revealed no pancreatitis. Labs showed suppressed C-peptide <0.1 ng/mL (1.1-4.4) in the setting of blood glucose 283 mg/dL (71-99). Her GAD-65 antibody was elevated at 902 U/mL (0.0-5.0). She was diagnosed with PD-1i induced autoimmune diabetes mellitus (PD-1i DM) and subsequently treated with basal and prandial insulin. Conclusion: The mechanism of PD-1i DM is unclear. A proposed mechanism is aberrant T cell activation towards pancreatic islet cells. One study found that 59% of patients with PD-1i DM presented with DKA.[1] In this study, the median time of PD-1i DM onset was 20 weeks after the first treatment cycle. Additionally, 40% of these patient had at least one positive pancreatic autoantibody. A recent meta-analysis found the relative risk of PD-1i DM to be 1.56 (95% CI = 0.95-2.57, P = 0.08).2 This relative risk increased to 2.06 (95% CI = 0.48-8.86, P = 0.33) when PD-1i were combined with cytotoxic T lymphocyte antigen-4 inhibitors.

7606 Partial Xp Duplication and Xq Deletion in a Patient with Premature Ovarian Failure: A Rare Case Report

Abstract Disclosure: A. Pataco: None. C.S. Moniz: None. C. Chaves: None. R. Medeiros: None. M. Ponte: None. B.D. Pereira: None. J. Anselmo: None. I. Sousa: None. Premature ovarian failure (POF) is a heterogeneous condition characterized by the cessation of ovarian function leading to amenorrhea before age 40. While the etiology of POF is diverse, the majority of cases are idiopathic, with a likely genetic basis. Xq abnormalities are commonly linked to POF, whereas Xp abnormalities are rare and infrequently reported.We describe a case of a 30-year-old woman with a personal history of depression, presenting to the Endocrinology department with an 8-month history of amenorrhea. Notably, her menstrual cycles had been irregular since menarche. Previously, a gynecological assessment led to the initiation of bromocriptine 5 mg/day for suspected microprolactinoma, indicated by symptoms of galactorrhea, elevated prolactin levels (112 ng/mL; Normal: 5.18-26.53), and a pituitary MRI showing a 3.5mm microadenoma. It is important to note her concurrent use of risperidone, sertraline, and lorazepam at that time.In the first evaluation at the Endocrinology department, the patient reported amenorrhea and denied galactorrhea. The physical examination was unremarkable with no evidence of hirsutism. The blood tests indicated hypergonadotropic hypogonadism, low levels of prolactin and Anti-Müllerian hormone: FSH 17 mIU/mL (Normal: 3.03-8.08), LH 8.30 mIU/mL (Normal: 1.80-11.78), 17-Beta Estradiol 11 pg/mL (Normal: 21-251), Total testosterone 20.1 ng/dL (Normal: 7.21-79.31), TSH 1.84 uIU/mL (Normal: 0.35-4.94), T4L 1.06 ng/dL (Normal: 0.70-1.48), PRL 1.8 ng/mL (Normal: 5.18-26.53), ACTH 21 pg/mL (Normal: 7.2-63.3), Cortisol 11.5 ug/dL (Normal: 3.7-19.4), IGF-1 130.2 ng/mL (Normal: 177-382), Anti-Müllerian hormone <0.1 ng/mL (Normal: 0.3-11.2).A diagnosis of premature ovarian failure was established. Bromocriptine was discontinued, and the hyperprolactinemia was attributed to the iatrogenic effects of her medications. A pelvic ultrasound showed no abnormalities. Cytogenetic analysis revealed an abnormal karyotype: 46 chromosomes with one X chromosome showing an anomalous configuration—partial deletion of the long arm and partial duplication of the short arm [duplication X(p22.33p11.23) with over 100 genes and deletion X(q24q28) including the FMR1 gene].The patient started hormone replacement therapy with estradiol valerate and medroxyprogesterone acetate, achieving regular menstruation thereafter. Literature review reveals that POF cases involving both partial Xp duplication and partial Xq deletion are exceedingly rare (only 6 reported cases). Genetic counseling is recommended for these patients, particularly for those considering parenthood. It is also advisable to assess the chromosomal alteration in parents to determine if the change is inherited and to evaluate the risk to other family members. Presentation: 6/2/2024

7925 Cowden Disease Occurring in Association with Common Variable Hypogammaglobulinemia: A Case Report

Abstract Disclosure: M.K. Shakir: None. I.C. Ebrahim: None. D.B. Maxwell: None. N.O. Vietor: None. T.D. Hoang: None. Carriers of a pathogenic germline mutations in the PTEN gene, a tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, including thyroid, breast, endometrial and colon cancer, termed as PTEN Hamartoma Tumor Syndrome (PHTS). Recent studies have shown that PHTS patients may also have an increased risk of immunological dysregulation, such as autoimmunity and immune deficiencies. We are reporting a 47-year-old female with Cowden disease (CD) and common variable hypogammaglobulinemia (CVH). Our patient was diagnosed with CVH at the age of 25 after several episodes of pneumonia as well as poor wound healing. Since then, she is being treated with monthly intravenous immunoglobulin therapy. At the age of 24 years, she had a fainting episode and a diagnosis of gangliocytoma of cerebellum was made and she underwent resection of the tumor. At this time, she was also diagnosed with CD. She has a personal history of multiple other tumors including phyllodes tumor of breast, s/p bilateral mastectomy at the age of 32, status post hysterectomy for endometrial hyperplasia at the age 35. Hurthle cell adenomas of thyroid s/p total thyroidectomy at the age of 38. Her family history was significant for sister and father with CD. Physical examination was remarkable for only acral keratosis without mucocutaneous neuromas, oral papillomas and trichilemmomas. Cowden syndrome is the best-described phenotype of PHTS; it is characterized by mucocutaneous lesions and an elevated risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as various benign manifestations such as macrocephaly and dysplastic gangliocytoma of the cerebellum. Our patient was diagnosed with CD when she presented with gangliocytoma of the cerebellum. Immunodeficiency has been reported previously in patients with CD, and these patients often present with recurrent cellulitis and abscesses, and reduced T cell numbers and in vitro T cell proliferative function. Thus, PHTS patients may also have an increased risk of immunological dysregulation, such as autoimmunity and immune deficiencies. Additionally, a decreased ability of dendritic cells to prime CD8+ T cells may occur, leading to impaired tumor eradication. Immune dysfunction in PHTS patients might be a potentially manageable contributing factor to the increased cancer risk in PHTS. In conclusion, patients presenting with CD should also be screened for disorders of immunological dysregulation. Presentation: 6/2/2024

7606 Partial Xp Duplication and Xq Deletion in a Patient with Premature Ovarian Failure: A Rare Case Report

Abstract Disclosure: A. Pataco: None. C.S. Moniz: None. C. Chaves: None. R. Medeiros: None. M. Ponte: None. B.D. Pereira: None. J. Anselmo: None. I. Sousa: None. Premature ovarian failure (POF) is a heterogeneous condition characterized by the cessation of ovarian function leading to amenorrhea before age 40. While the etiology of POF is diverse, the majority of cases are idiopathic, with a likely genetic basis. Xq abnormalities are commonly linked to POF, whereas Xp abnormalities are rare and infrequently reported.We describe a case of a 30-year-old woman with a personal history of depression, presenting to the Endocrinology department with an 8-month history of amenorrhea. Notably, her menstrual cycles had been irregular since menarche. Previously, a gynecological assessment led to the initiation of bromocriptine 5 mg/day for suspected microprolactinoma, indicated by symptoms of galactorrhea, elevated prolactin levels (112 ng/mL; Normal: 5.18-26.53), and a pituitary MRI showing a 3.5mm microadenoma. It is important to note her concurrent use of risperidone, sertraline, and lorazepam at that time.In the first evaluation at the Endocrinology department, the patient reported amenorrhea and denied galactorrhea. The physical examination was unremarkable with no evidence of hirsutism. The blood tests indicated hypergonadotropic hypogonadism, low levels of prolactin and Anti-Müllerian hormone: FSH 17 mIU/mL (Normal: 3.03-8.08), LH 8.30 mIU/mL (Normal: 1.80-11.78), 17-Beta Estradiol 11 pg/mL (Normal: 21-251), Total testosterone 20.1 ng/dL (Normal: 7.21-79.31), TSH 1.84 uIU/mL (Normal: 0.35-4.94), T4L 1.06 ng/dL (Normal: 0.70-1.48), PRL 1.8 ng/mL (Normal: 5.18-26.53), ACTH 21 pg/mL (Normal: 7.2-63.3), Cortisol 11.5 ug/dL (Normal: 3.7-19.4), IGF-1 130.2 ng/mL (Normal: 177-382), Anti-Müllerian hormone <0.1 ng/mL (Normal: 0.3-11.2).A diagnosis of premature ovarian failure was established. Bromocriptine was discontinued, and the hyperprolactinemia was attributed to the iatrogenic effects of her medications. A pelvic ultrasound showed no abnormalities. Cytogenetic analysis revealed an abnormal karyotype: 46 chromosomes with one X chromosome showing an anomalous configuration—partial deletion of the long arm and partial duplication of the short arm [duplication X(p22.33p11.23) with over 100 genes and deletion X(q24q28) including the FMR1 gene].The patient started hormone replacement therapy with estradiol valerate and medroxyprogesterone acetate, achieving regular menstruation thereafter. Literature review reveals that POF cases involving both partial Xp duplication and partial Xq deletion are exceedingly rare (only 6 reported cases). Genetic counseling is recommended for these patients, particularly for those considering parenthood. It is also advisable to assess the chromosomal alteration in parents to determine if the change is inherited and to evaluate the risk to other family members. Presentation: 6/2/2024

An Epidemiological Cross-sectional Study of Post-COVID-19 Syndrome in Patients of Anand District

Abstract Background: Coronavirus has infected 44.7 million Indians until December 2022. After recovery, patients are developing long-term effects of COVID-19. Research is required to know the burden of post-COVID-19 syndrome (PCS) and factors leading it. To estimate the prevalence of PCS and its associated factors in Anand district of Gujarat state. This cross-sectional study was conducted in 8 talukas of Anand district. Methods and Material: Sample size of 450 patients divided into the hospitalized group and home/facility isolated group with samples of 300 and 150, respectively. Information was collected using a pretested semistructured questionnaire after taking written informed consent. It included demographic details, personal history, COVID-19-related information, and questions regarding persistent/newly developed symptoms after 12 weeks of COVID-19. The data collected were entered in Microsoft Excel 2019 and analyzed by SPSS version 15. Descriptive analysis followed by univariate analysis and logistic regression was performed. Among 450, 56% of patients were male and 43.3% were female. Results: The study reported 25.11% prevalence of PCS. Majority (82%) of patients having PCS had Grade I symptoms. Common symptoms recorded were weakness (10%) and breathlessness (4%). PCS was found to be associated with the hospitalization status of a patient, administration of drugs like antacids, Ivermectin, and Insulin. Conclusions: Looking at current prevalence of PCS, well-sensitized healthcare system is needed to be established. Further research is required to explore more risk factors leading to PCS and various treatment options for PCS.

Inflammatory and genomic interactions within keratoconus susceptible patients: a nationwide registered case–control study

PurposeThis study aimed to investigate the association between variants in the interleukin (IL)-1 gene cluster and susceptibility to keratoconus (KC) in an Iranian population.MethodsIn the case group, there were 188 KC patients diagnosed by clinical findings and corneal tomography. The control group included all 205 healthy controls with no personal or family history of eye-related, metabolic, or immune system-related disease. Using the standard salting out extraction procedure, genomic DNA was isolated from peripheral blood leukocytes. The genotypes were determined by applying agarose gel electrophoresis for the IL-1RN 86 bp VNTR and polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) for rs16944 and rs1143634.ResultsThe results showed a significant association between the IL-1β rs1143634 (rs1143634 T allele, P = 0.008) and IL-1RN 86 bp VNTR polymorphisms (LL and LS genotype, P = 0.048 and 0.012 respectively) and susceptibility to KC in the Iranian population. The genotype distributions of rs1143634 (P = 0.004) and rs2234663 (P = 0.042) significantly differed between case and control groups, with certain genotypes demonstrating a protective effect against KC. Logistic regression analysis revealed a protective effect of the IL-1RN L allele [odds ratio (OR) = 0.367, 95% confidence interval (CI): 0.240–0.562; P = 0.000] and certain haplotypes (OR = 0.628, 95% CI: 0.447–0.884; P = 0.007) against KC. However, no significant association was found for the IL-1β rs16944 polymorphism.ConclusionThis study provides evidence for an association between variants in the IL-1 gene cluster and susceptibility to KC in an Iranian population. Further research on larger and more diverse populations is warranted to validate these findings and explore the underlying mechanisms involved.

A Survey to Determine Health Utility States After a Traumatic Brain Injury (TBI): Influence of a History of TBI on Disability Perceptions.

Background The Glasgow Outcome Scale-Extended (GOSE) has emerged as one of the most widely used outcome instruments for evaluating ongoing disability and recovery after traumatic brain injury (TBI). The influence of a personal history of TBI on disability perception and quality of life is not well understood. This study aimed to assess changes in health utility states using the GOSE among individuals with severe TBI and their caregivers compared to a general population group. We hypothesized that individuals with a history of TBI, either as patients or caregivers, would recognize health utility associated with a more severe disability than the general population group. Methodology This cross-sectional, observational study included 300 individuals with a history of severe TBI, 300 designated primary caregivers or family members, with 1:1 participation for each subject with severe TBI, and 300 participants from the general population. A computer-based survey was developed based on the GOSE. Participants assessed hypothetical scenarios representing one-year post-TBI outcomes using a standard gamble approach. The main measure for this study was participants' perceptions of health-related quality of life and preferences for different GOSE health states following TBI. Results Of the 900 initial participants, 10 were excluded. Among the remaining 890 participants, lower GOSE states were rated to have lower health utilities. The general population group exhibited a notable decrease in health utility ratings from GOSE4 to GOSE3. Individuals with a history of severe TBI and their caregivers or family members experienced the most substantial decline in health utility ratings between GOSE3 and GOSE2. TBI and caregiver/family member status correlated with higher health utility ratings. Conclusions This study validated the use of the GOSE as a health utility metric and emphasized the subjective nature of acceptable outcomes. These findings underscore the need for considering personal experiences and preferences in decision-making regarding TBI care.

Multicenter observational study on the efficacy of selective Janus Kinase-1 inhibitor upatacitinib in rheumatoid arthritis.

Upadacitinib (UPA) is a selective, reversible Janus kinase inhibitor (JAKi) approved for the treatment of RA. However, there is still no solid evidence on the long-term efficacy of UPA in treated patients. The purpose of this study was to determine the efficacy of UPA to obtain remission or low disease activity (LDA) in a series of UPA patients in patients with RA after 6 and 12 months of treatment in a real-world setting. A series of 111 consecutive patients treated with UPA in 23 rheumatology centers were enrolled. Personal history, treatment history and disease activity at baseline, after 6 and 12 months were recorded. Intention-to-treat (ITT) and per-protocol (PP) analyses assessed achievement of remission or LDA or defined as DAS28 <2.6 and ≤3.2, respectively. Logistic regression analysis examined the role of several independent factors on the reduction of disease activity after 6 months of treatment. Of the initial group of 111 subjects at baseline, 86 and 29 participants completed clinical assessments at 6 and 12 months. According to ITT analysis, the rates of remission and LDA were 18% and 18% at 6 months and 31.5% and 12.5% at 12 months, respectively. PP analysis showed higher rates of remission and LDA at 6 (23.3% and 19.8%) and 12 months (55.2% and 20.7%). Results of multivariate logistic regression analysis indicated that a low DAS28 score (P=0.045) was the only predictor of achieving remission at 6 months. None of the baseline factors predicted remission/LDA at 6 months. RA patients treated with UPA achieved a significant rate of disease remission or LDA in a real-world setting. The 6-month response was found to depend only on the baseline value of DAS28, while it was not influenced by other factors such as disease duration, line of treatment or concomitant therapy with conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) or corticosteroids.

Prevalence of Major Risk Factors and Assessment of 10-Year Risk for Cardiovascular Diseases Among Adults in Yaoundé, Cameroon: A Cross-Sectional Study.

Objective This study aimed to assess the prevalence of major risk factors for cardiovascular disease and the 10-year cardiovascular risk in an adult population residing in Yaoundé, Cameroon. Methodology We conducted a cross-sectional survey in 10 purposively selected neighbourhoods of Yaoundé, involving one adult per household who consented to participate. We collected data on personal and family history, lifestyle and nutritional habits, anthropometric parameters, and blood pressure, and calculated prevalence rates with 95% CI. Results The study involved 411 participants (172 males) with a median age of 28 years (IQR 23-40 years). Prevalence of CVD risk factors in our study population werefamily history of heart attack (4.4%; 95% CI 2.8-6.8%), stroke (7.5%; 95% CI 5.3-10.5%), harmful alcohol consumption (40.4%; 95% CI 35.8-45.3%), current smoking (5.1%; 95% CI 3.3-7.7%), second-hand smoking (26.6%; 95% CI 22.6-31.1%), low physical activity (66.4; 95% CI 61.7- 70.8%), inadequate fruit/vegetable intake (36.6%; 95% CI 31.4-42.1%), self-reported anxiety (83.5%; 95% CI 79.6-86.8%) and depression (52.3%; 95% CI 47.4-57.1%), overweight (27.0%, 95% CI 22.9 to 31.5%), obesity (25.1%, 95% CI 21.1 to 29.5%), abdominal obesity (65.9%; 95% CI 61.1-70.2%), excess body fat (46.3%; 95% CI 41.4-51.1%), suspected prehypertension (58.3%; 95% CI 51.1-65%) and hypertension (41.8%; 95% CI 35-48.9%). Furthermore, 40% of overall participants had a moderate-to-high 10-year CVD risk. Independent factors such as a personal history of other chronic diseases and parental history of either diabetes or hypertension combined with behaviours like harmful alcohol consumption and mean blood pressure might significantly influence thecardiovascular risk of our study population Conclusion In Yaoundé, Cameroon, many adults have major risk factors for cardiovascular disease, with nearly one-third of young adults atmoderate to high risk of developing CVD within the next decade. Thus, it is crucial to implement targeted interventions to mitigate the risk of CVD.