Contusion Research Articles

Diagnostic Concordance Between Physiotherapist and Emergency Physicians for Patients With a Musculoskeletal Disorder in the Emergency Department.

Many patients present to the emergency department (ED) with a musculoskeletal disorder. In consequence, some hospitals have integrated autonomous management of musculoskeletal disorders by physiotherapists after triage. Although potential benefits were demonstrated, few studies have examined the agreement between physiotherapists' and emergency physicians' diagnosis. A better understanding of diagnostic concordance between physiotherapists and emergency physicians could inform the implementation of this care model. Secondary analysis of data obtained through a pilot pragmatic randomised clinical trial. Data from patients presenting a minor musculoskeletal disorder managed by a physiotherapist and an emergency physician were used. Diagnostic concordance was examined using raw agreement and Gwet's first-order agreement coefficient. Thirty-six participants were assessed by both professionals (36.8±18.2years; W: 55.6%). Overall raw agreement was 86.1% and the diagnostic concordance was almost perfect (Gwet's AC1: 0.84, 95% CI: 0.69-0.98). The most common disagreement was when physiotherapists suspected a bone fracture or contusion, whereas emergency physicians diagnosed a ligament or meniscus disorder. Our results show excellent diagnostic concordance between physiotherapists and emergency physicians, thus supporting the safety of physiotherapy care in the ED. More studies are needed to confirm these results with a larger variety of diagnoses and age strata.

Factor XIII Deficiency Presenting With Duodenal Hematoma in a 3-Year-Old Female: A Comprehensive Radiological Assessment.

In the pediatric age group, FXIII deficiency can present as abnormal or delayed bleeding from the umbilical stump, soft tissue and subcutaneous bleeding, intracerebral hemorrhages, intraoral bleeding, and poor wound healing. This case report describes an atypical presentation of FXIII deficiency in a 3-year-old female who presented to the emergency department with complaints of abdominal pain and vomiting. She was managed conservatively under the care of the pediatric surgery team.

May-Hegglin, another Cause of Cataract: Case Report and Review

May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder characterized by the presence of large, abnormally shaped platelets (macrothrombocytes), thrombocytopenia, and distinctive leukocyte inclusions known as Döhle-like bodies. First described by the German physician Heinrich May in 1909 and further characterized by Swiss hematologist Otto Hegglin in 1945, MHA is part of a group of disorders collectively referred to as the MYH9-related diseases, which also include Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. A 41-year-old male presents with a 10-year history of thrombocytopenia and a recent development of bilateral cataracts over the past three years. The patient reports that the thrombocytopenia has been resistant to corticosteroid treatment. He has experienced occasional episodes of mild bleeding, including easy bruising, epistaxis, and petechiae, but no severe hemorrhagic events. He denies any history of significant trauma, surgeries, or other major medical conditions. There is no known family history of similar hematological or ophthalmological issues. One of the primary ophthalmological concerns in MHA is the increased risk of retinal hemorrhages. Thrombocytopenia, a hallmark of MHA, predisposes patients to bleeding complications due to insufficient platelet numbers [3, 4]. The retinal vasculature, being highly sensitive to changes in hemostasis, is particularly vulnerable. Retinal hemorrhages can manifest as dot-blot hemorrhages or more extensive preretinal hemorrhages, potentially leading to vision impairment. Regular ophthalmologic examinations are crucial for early detection and management of these hemorrhages to prevent permanent vision loss. This case underscores the importance of considering MYH9-related disorders in patients presenting with thrombocytopenia resistant to standard treatments and associated with atypical clinical features, such as cataracts and leukocyte inclusions. Comprehensive diagnostic evaluations, ...

A cross-sectional study to characterise the topical steroid dependent face by dermoscopy at a tertiary care centre

The occurrence of topical steroid dependent face (TSDF) in India has become widespread because of the abuse of creams containing steroids. Of late, many studies have been undertaken about topical steroid dependent face. Only few studies have demonstrated the dermoscopic features of this condition. Hence, we undertake a research to study the characteristic features of topical steroid dependent face by dermoscopy.A total of 398 patients who have applied topical steroid creams for more than one month and with symptoms indicative of topical steroid dependent face like redness, itching, burning, increased hair growth, acne were included in the study. The demographic, clinical and dermoscopic features were noted in such patients. These dermoscopic features were correlated with the clinical features and potency of steroid creams using Chi- square test. Statistical analysis was done using standard statistical software, ‘p’ value less than 0.05 was considered statistically significant.398 cases were included in the study. The mean age of the patients was 30.22 ± 5.7 years. The duration of topical corticosteroid application was 1-3 months in 30.15% patients, 3-6 months in 32.66% patients. Melasma and other hyperpigmentary causes was the most common cause of steroid usage in 32.16% patients. The most prevalent steroid used was 0.1% Betamethasone valerate. The most common presenting complaints were with itching (70.35%) and redness (69.84%). The dermoscopic features included mainly diffuse red areas (93.96%), terminal hair (75.87%), telangiectasias (74.87%) and brown globules (73.86%). Terminal hair, telangiectasias, focal white areas, white hair were seen on dermoscopy in statistically higher proportion of cases.Atrophy of skin, telangiectasias, red skin, hypertrichosis, easy bruisability and acneiform eruptions are the common clinical features of TSDF in our cohort. Dermoscopic findings along with these clinical features aid in meticulous diagnosis, differentiating it from other dermatological disorders. Hence, dermoscopic evaluation of TSDF provides an easy, diagnostic and time saving procedure that aids in quick detection and helps in management of such cases.

The First Case of Bernard-Soulier Syndrome Presenting with Isolated Hemoptysis and Probable Diffuse Alveolar Hemorrhage: A Case Report and Literature Review

Bernard-Soulier syndrome (BSS) is a rare platelet function disorder due to an impaired GPIb-V-IX complex, with an estimated incidence of one per million. Usual presentations include gingival bleeding, epistaxis, easy bruising, and post-traumatic excessive bleeding, among others, but not hemoptysis. The patient was a 46-year-old male who presented with three cups of hemoptysis two days before the presentation. He also had moderate burning chest pain for the past two weeks, which was getting better. He was diagnosed with BSS 45 years ago and had approximately 100 prior presentations for bleeding from various locations, including three prior episodes of hemoptysis. The mainstay of treatment was platelet transfusions, and the patient was carefully observed. Only one case of hemoptysis in a patient with BSS was found, but the patient had hemoptysis due to underlying pulmonary tuberculosis. Therefore, hemoptysis or DAH were never reported in the literature due to BSS. This patient was the first case of massive hemoptysis and possible DAH related to BSS, emphasizing the need for proper attention due to its possible detrimental outcomes.

A bizarre case of recurrent hemoptysis and pneumothorax in a young male

Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited disorder affecting approximately 1 in 150,000 individuals, caused by heterozygous mutations in the COL3A1 gene. Characterized by primary spontaneous pneumothorax and severe connective tissue fragility, vEDS remains poorly understood clinically, making diagnosis challenging. We present the case of a 20-year-old male with a history of mitral valve prolapse, recurrent hemoptysis, knee joint dislocations, and easy bruising. In February 2023, he was admitted to the emergency department following a seizure, syncope, and altered sensorium, which led to an extensive evaluation of his non-specific symptoms. Ultimately, he was diagnosed with vEDS.

Complete medial meniscal root injury and medial collateral ligament injury are risk factors for increased medial meniscal extrusion

Objectives To evaluate the association between medial meniscus posterior root tear (MMRT) with anthropometric characteristics of the patient (age, weight, and height) and associated injuries identified on MRI (meniscal extrusion, medial collateral ligament [MCL] injury, bone edema, and subchondral fracture of the tibia). Methods The characteristics and associated injuries of 55 patients diagnosed with an injury (either partial or complete) of the root of the posterior horn of the medial meniscus, diagnosed on MRI and confirmed arthroscopically, were compared. Specifically, age, sex, anthropometric data, meniscal extrusion, associated MCL injury, and presence of associated bone edema were evaluated. Results There was a moderate positive correlation between the age of the patients and the degree of extrusion (r = 0.565; p < 0.0001). Greater meniscal extrusion was observed in patients who had complete medial meniscus root tear (C-MMRT) (p = 0.008). Patients with MCL injury presented with significantly greater meniscal extrusion when compared to individuals without MCL injury (p = 0.042). Similarly, the incidence of bone bruising was higher in patients with a MMRT with an associated MCL injury, when compared to patients without concomitant MCL injury (p=0.012). Conclusion Patients with a C-MMRT had greater meniscal extrusion than patients with a partial medial meniscus root tear (P-MMRT). The presence of a concomitant MCL injury was significantly associated with the meniscal extrusion in patients with concomitant meniscal root injury. The presence of associated bony edema was not associated with meniscal extrusion, but was significantly more common in patients with C-MMRT when there was an associated MCL injury compared to those without an associated MCL injury.

Effects of Titanium Dioxide Nanoparticles on Chick Embryo: Immunomodulatory, Hepatic and Biochemical Alterations.

The utilization of titanium dioxide nanoparticles (TiO2 NPs) has significantly increased across various industries. This study rigorously explored the impact of TiO2 NPs exposure on chicken embryos, focusing particularly on alterations in the immune system, liver functionality and key biochemical markers. The study involved three groups of 30 eggs each, subjected to increasing doses of TiO2 NPs: Group C (control), Group T1 (150µg/mL) and Group T2 (300µg/mL). After 48h of incubation, the eggs in Groups T1 and T2 each received an injection of 0.3mL of the TiO2 NPs solution. In contrast, the eggs in the control group (Group C) were injected with 0.3mL of saline solution. Histopathological changes were analysed using haematoxylin and eosin (H&E) staining, whereas amniotic fluid's biochemical properties were examined photometrically. The study also assessed the expression of immune genes (AvBD9, IL6 and IL8L2) through quantitative PCR. The evaluations included growth metrics, amniotic fluid biochemistry and histological analysis of the liver, caecal tonsil and bursa of Fabricius. The results revealed subcutaneous haemorrhage, significant reductions in total body weight and marked changes in biochemical markers, including urea, creatinine, alkaline phosphatase (ALP), aspartate aminotransferase (AST) and alanine aminotransferase (ALT), in the amniotic fluid of the groups treated with TiO2 NPs, compared to the control. Histological examinations indicated noticeable alterations in the liver, caecal tonsil and bursa of Fabricius following TiO2 NP exposure. These alterations were characterized by disruptions in cellular structures and variations in lymphocyte counts. Furthermore, a notable decrease in the expression of immunity genes, namely, AvBD9, IL8L2 and IL6, was observed in the TiO2 NP-treated groups compared to the control. The findings underscore the need for risk assessments of TiO2 NPs exposure due to its impact on development and immunity. Future research should explore its impact on neurodevelopment and degeneration.

A diagnosis of vascular ehlers-danlos syndrome in childhood: clinical and molecular features of 63 individuals

Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder characterised by generalised severe tissue friability and predominantly caused by pathogenic COL3A1 variants. Diagnosis of vEDS in childhood primarily occurs due to a positive family history and/or the occurrence of an early arterial or intestinal event. However, little has been reported on additional clinical characteristics and management in this population. Purpose This study aims to identify critical drivers of a childhood vEDS diagnosis in individuals diagnosed through a national EDS service. Methods 63 individuals (24 index, 31 females) with a clinical and genetic diagnosis of vEDS in childhood (< 18 years) were identified through a national EDS service, and childhood cardiovascular surveillance was conducted through joint inherited cardiovascular disease clinics. Results Diagnosis of vEDS in childhood occurred at a median age of 7 years (IQR 3-12) and was predominantly driven by positive family history of vEDS (55.5%). Clinical investigations were directly initiated by occurrence of a major clinical event in n=13 (20.6%), and a total of 17 major clinical events in childhood were recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and vascular events, though infrequent, occurred as early as the first year of life. In individuals who did not have a positive family history or major event, easy and/or excessive bruising was the most frequent cause for referral (60%). Conclusions This cohort provides further details of the clinical and genetic characteristics of children with vEDS and contributes new insight into drivers of vEDS diagnosis in childhood and the importance of long-term management, including paediatric cardiovascular surveillance.

A Rare Case of Acute Promyelocytic Leukemia with Concomitant PML-RARA Fusion and TP53 Loss/ider(17)(q10)t(15;17) Showing Complete Clinical and Molecular response: A Case Report

Abstract Introduction/Objective To report a case with rare cytogenetic abnormality: a patient with newly diagnosed acute promyelocytic leukemia (APL) with cytogenetic findings of t(15;17)(q24;q21), trisomy 8 and ider(17)(q10)t(15;17)-TP53 loss. The presence of isochromosome 17q may indicate the possibility of an unfavorable outcome. However, the case showed complete clinical and molecular response. Methods/Case Report A case of a 53-year-old female with history of ITP post-splenectomy presented with persistent hematuria, easy bruising, and worsening fatigue. She had mild microcytic anemia, moderate thrombocytopenia, 3% promyelocytes, and 14% blasts on differential CBC count. With increased PT, PTT, LDH, Uric acid and decreased fibrinogen level, APL was clinically suspected. The patient was initiated on all-trans retinoic acid (ATRA), allopurinol, and IV fluids. Bone marrow (BM) biopsy confirmed the diagnosis with unusual cytogenetic findings. The patient underwent induction and consolidation therapies (4 weeks each) with ATRA plus Arsenic Trioxide (ATO) and followed- up with a series of marrow biopsies, cytogenetic and molecular studies. Results (if a Case Study enter NA) The patient demonstrated complete clinical, histological, and molecular response. She tolerated the treatment without major side effects, showing improvement in CBC counts, coagulation profile and tumor lysis labs. Initial BM exam revealed hypercellularity with infiltrating sheets of atypical hypergranular promyelocytes (~80%) and minimal residual left trilineage hematopoiesis. Flow cytometry revealed a CD34 negative, CD117 variable abnormal promyelocyte population (~67% of total events). FISH was positive for PML/RARA translocation (15; 17) and TP53 loss. Karyotype showed 46,XX,der(15)t(15;17)(q24;q21),ider(17)(q10)t(15;17)[12]/47,idem,+8[9]. By the end of treatment, BM biopsy was normocellular with trilineage hematopoiesis and no definitive evidence of acute leukemia or increase in blasts. The Karyotype was normal. Quantitative PCR for PML-RARA was negative, indicating complete molecular remission. Conclusion In this unique case of APL with unusual cytogenetic abnormalities the literature demonstrates controversial data. The patient achieved complete clinical and molecular remission following standard treatment. This may indicate the limited prognostic significance of these additional cytogenetic abnormalities in this case.

6637 A Rare Case of a Possible Non-functional (Clinically Silent Biochemically Negative) Adrenal Pheochromocytoma

Abstract Disclosure: V.K. Babu: None. M.T. Corwin: None. S.T. Olatunbosun: None. Introduction: Adrenal pheochromocytomas (pheo) are rare neuroendocrine tumors arising from the chromaffin cells of the adrenal medulla. Their incidence is around 0.8 per 100,000 patient years. They are usually sporadic, with about 40% having a pre-existing familial genetic disease. About 3% of adrenal incidentalomas prove to be pheo. They have a heterogenous presentation and are diagnosed by measuring urinary and plasma fractionated metanephrines (met) and catecholamines (catecho). The diagnosis becomes challenging in patients presenting with small tumors and normal levels of biochemical metabolites, as in our patient. Clinical Case: A 32-year-old male with no significant past medical history was referred to us with a left adrenal incidentaloma of 1.2 cm x 1 cm with 23 Hounsfield units during a non-contrast CT scan performed for abdominal pain. He denied spells of headaches, excessive perspiration, palpitations, history of hypertension, hypokalemia, history of kidney stones, fractures, muscle weakness, easy bruisability, new abdominal striae, change in weight, steroid use, or family history of endocrine tumors. MRI with adrenal protocol 3 months later showed a 1.2 cm x 1.4 cm left adrenal nodule that was markedly hyperintense on T2-weighted and hypointense on T1-weighted images without microscopic fat, suspicious for a pheo. It also demonstrated peripheral enhancement with progressive central filling on the delayed images without washout. Plasma met and catecho were normal: normetanephrines (normet) (45.2 pg/mL), met (36.4 pg/mL), epinephrine (epi) (34 pg/mL), norepinephrine (norepi) (295 pg/mL) and dopamine (<30 pg/mL). Subsequent 24-hour urine testing revealed normal met (155 mcg/day, 154 mcg/day), and normal normet (248 mcg/day, 236 mcg/day) on two separate occasions, and normal epi (9 mcg/L), norepi (36 mcg/day), and dopamine (228 mcg/day). The patient was subsequently referred to Endocrine Surgery for evaluation. Conclusion: Our patient likely has a non-functional pheo. Another possibility is an adrenal hemangioma, which would show discontinuous peripheral nodular enhancement in addition to progressive central filling. Patients with pheo less than 2 cm may present with normal biochemical testing. The size of a pheo is usually proportional to the levels of its biochemical metabolites. This case is unique because patients with a similar sized pheo are expected to have 3 times higher levels of plasma met and catecho, even if still within normal limits. It is important to take tumor size into consideration when interpreting labs to determine its functional status. This may help in determining the need for a pre-operative alpha blockade prior to adrenal surgery. A definitive diagnosis of a pheo’s non-functional status can only be confirmed after histopathological examination of the tumor tissue. Presentation: 6/3/2024

5131 Vanishing Act: Uncommon Case Of Pheochromocytoma With Positive Biochemical Work-up With Absence Of Tumor And Medullary Tissue

Abstract Disclosure: N. Chan: None. R. Kaufman: None. N. Farhat: None. G.Y. Kim: None. Pheochromocytomas are rare neuroendocrine tumors derived from adrenal chromaffin cells that result in hyperactivity of the sympathetic nervous system. In the United States, they occur in about 0.05% to 0.1% patients with sustained hypertension. We are presenting a case of a patient with biochemical evidence of pheochromocytoma, but surgical pathology revealed absence of tumor and residual normal medulla.80-year-old female with a history of follicular lymphoma and hypertension presented for evaluation of an incidental right-sided adrenal nodule noted on a PET-CT. She had a history of hypertension managed on lisinopril 40 mg, amlodipine 10 mg and atenolol 100 mg daily. She denied a history of weakness, dizziness, headaches, palpitations, or easy bruising. Workup was negative for primary aldosteronism and Cushing’s Syndrome. Plasma normetanephrines was high at 675.7 pg/mL (0-285.2 pg/mL). 24-hour urinary normetanephrine was also elevated at 562 ug/g (0-400 ug/g). CT abdomen and pelvis with and without contrast revealed a 1.4 cm right adrenal nodule approximately 16 Hounsfield units. These findings were suggestive of pheochromocytoma. She was pre-treated with alpha blockade and subsequently had a robotically assisted laparoscopic right adrenalectomy. Postoperatively, the patient was hypotensive and required vasopressors. She was eventually weaned off vasopressors and discharged on lisinopril 20 mg daily. Soon after discharge, the patient was complaining of hypotension and this dose was halved. 4 weeks postoperatively, laboratory evaluation showed normalization of plasma normetanephrines to 0.83 nmol/L (0-0.89 nmol/L). Surgical pathology revealed an infarcted benign adrenal cortical proliferative lesion with background of cortical hyperplasia, fibrotic adrenal medullary region, and hemosiderin deposition. There was no identifiable medullary neoplasm and no residual medulla.Pheochromocytomas are highly vascular tumors as angiogenesis is a critical step in tumor growth, which can lead to frequent infarcts. This case shows classic biochemical evidence of pheochromocytoma. Interestingly, the resulting clinical examination displayed obliteration of the medullary tissue. Complete disappearance of both tumor and residual normal medulla is extraordinarily rare. The pre-operative hormonal levels in association with findings of complete absence of neoplastic and nonneoplastic medullary tissue cannot be explained. Presentation: 6/1/2024

6426 Pregnancy-induced ACTH-independent Cushing Syndrome: A Rare Phenomenon Secondary To Aberrant Receptors On Adrenal Glands

Abstract Disclosure: K. Manglani: None. S.T. Sharma: None. Pregnancy-induced hypercortisolism is a rare phenomenon with very few cases reported in the literature. The pathogenesis is thought to be secondary to the expression of aberrant LH/hCG receptors on the adrenal gland that stimulate cortisol production in pregnancy. We present a case of a 31-year-old female with no past comorbidities until her first pregnancy in 2017 when she gained around 50lbs, developed violaceous striae, acne, hirsutism, depression with suicidal ideation for which she was hospitalized twice, and underwent emergent C-section at 34 weeks’ gestation due to pre-eclampsia. She was referred to the Endocrinology clinic post-delivery, and screening for Cushing syndrome was negative at that time: 24-hour urinary free cortisol (UFC), late-night salivary cortisol (LNSC) and 1-mg dexamethasone (dex) suppression test (DST) were normal. She presented again in 2020 during her second pregnancy at 14 weeks gestation, with 20lb weight gain in the first trimester, acne, hirsutism, and easy bruising. Labs showed cortisol of 22.4 mcg/dL (6.2-19.4), ACTH <1.5 pg/mL, total testosterone 168 ng/dL (8-48), androstenedione 751 ng/dL (41-262), DHEAS 91.2 mcg/dL (84.8-378), 24-hour UFC 277 mcg/day (6-42), LNSC 0.671 mcg/dL, 1mg DST with post-dex cortisol 24 mcg/dL (dex level 58 ng/dL), and 8-mg DST with post-dex cortisol level of 28.2 mcg/dL (dex level 457 ng/dL). Testing was consistent with ACTH-independent Cushing syndrome. Ultrasound and MRI of the abdomen/pelvis showed normal adrenal glands with no hyperplasia or mass. Given worsening hypercortisolism and her course during a prior pregnancy, medical treatment with metyrapone was initiated. We started at a dose of 500 mg daily and gradually increased to 1500 mg with close monitoring of her blood pressure and cortisol levels. She underwent vaginal delivery at 38 weeks’ gestation, and the baby required a brief stay in the NICU for respiratory distress but was otherwise doing well. The patient developed secondary adrenal insufficiency post-delivery requiring hydrocortisone, with recovery of her HPA axis in around 10 weeks. Since then, she has been off hydrocortisone with normal UFC, ACTH, and cortisol levels. This case enables discussion regarding the underlying etiology, diagnostic difficulties, and management of this rare condition. Although the exact etiology is unknown, the postulated mechanism is aberrant LH/hCG receptor expression given the patient’s presentation during each pregnancy, normal cortisol levels between both pregnancies, and a brief period of adrenal insufficiency post-delivery. Management of hypercortisolism during pregnancy remains challenging. Metyrapone, a steroidogenesis inhibitor, can be considered for control of hypercortisolemia during pregnancy (off-label) in select cases to prevent maternal and fetal complications. Presentation: 6/1/2024

12530 Inferior Petrosal Sinus Sampling In Cushing’s Disease

Abstract Disclosure: A. Gondhi: None. S. Antharam: None. I. Moledina: None. Inferior Petrosal Sinus Sampling in Cushing’s Disease Introduction: Cushing's disease (CD) is the most common cause of endogenous Cushing syndrome( CS) caused by ACTH secreting pituitary tumor. MRI is typically used for imaging, but standard MRI may only detect 50% of microadenomas. In these cases, inferior petrosal sinus sampling (IPSS) is the gold standard in detecting pituitary source of ACTH. Case presentation:A 53-year-old man presented with signs and symptoms of CS: fatigue, weight gain, decreased libido, mood swings, new onset prediabetes. Physical examination revealed cushingoid appearance with facial flushing, easy bruising, abdominal purple striae. Initial work up revealed ACTH dependent CS: elevated late night Salivary cortisol 0.39 mcg/dL (<0.09 mcg/dL), 24hr urine free cortisol 192 mcg/24 hour (4 – 50 mcg/24 hour)Non suppressed cortisol 8.1 mcg/dL (<1.8 mcg/dL) after 1mg dexamethasone suppression test8 AM ACTH 56 pg/ml (7.2 – 63 pg/ml), DHEAS 491 mcg/dL (38-318 mcg/dL)Pituitary hormonal work up: normal Prolactin 7.8 ng/mL (2.6-13.1 ng/mL)Low TSH 0.29 ng/ml (0.45-5.3 ng/ml) with normal Free T4 0.76 ng/dl (0.58-1.6 ng/dl)Low Total Testosterone 150 ng/dl (175-781 ng/dl), Low FSH<0.7 mInt units/ml(1.27-19.26 mInt units/ml), Low LH 1 mInt units/ml (1.24- 8.62 mInt units/ml), Normal IGF 180 ng/mL (65-222 ng/mL), A1C 6% (Prediabetes – 5.7-6.4) MRI Brain showed normal pituitary gland. IPSS was performed with DDAVP: +2, +5, +10, +15: Right/ periphery ratio- 31.8, 10.75, 7.6, 5.3. left/periphery ratio- 26.6, 18.8, 8.3, 7.5. All the ratios >=3, which showed clear central to peripheral gradient. and no left or right difference consistent with Cushing's disease. Subsequently, a transsphenoidal pituitary gland resection was performed. Suspicious tissue was excised from both sides during the surgery, showing positive ACTH immunostaining, consistent with pituitary microadenoma. Post-operative labs showed significant improvement with normalization of Cortisol 3.2 mcg/dl, ACTH 45 pg/ml, TSH 3.14 ng/ml, FT4 0.61 ng/dl, FSH 1.7 mInt units/ml, LH 2.4 mInt units/ml, Prolactin 7.1 ng/ml, A1C 5.4 %He was discharged on physiological dose of Hydrocortisone and passed cortisol stimulation test (3.4 mcg/dl ---> 18.1 mcg/dl) Conclusion: Distinguishing between CD and ectopic ACTH secretion is crucial due to the differing treatment options. The most accurate method for differentiation is IPSS, which boasts high sensitivity and specificity compared to other analyses. Despite its invasiveness, IPSS is associated with rare adverse events, making it a valuable tool in clinical practice. Presentation: 6/3/2024

8774 An Uncommon Presentation Of A Large Silent Pheochromocytoma

Abstract Disclosure: M. Lozano: None. A. Pinero-Pilona: None. Background: The reported estimated incidence of pheochromocytoma is approximately 2-8 cases per 1 million people per year. Of those, silent pheochromocytomas will make up about 8%. Thus, biochemically silent and non-secreting pheochromocytomas are a very rare phenomenon. Clinical Case: A 74-year-old Caucasian female with significant past medical history of primary hypothyroidism, hypercholesterolemia, and nasal sinus carcinoma s/p surgery (in remission) presented to the clinic for endocrine evaluation of a right adrenal mass. The patient was asymptomatic and denied headaches, tachycardia, sweating, severe hypertension, diabetes, muscle weakness, easy bruising, or striae. The mass was initially diagnosed as an incidental finding after a contrast CT scan of the abdomen was performed for diverticulitis. The right adrenal enhancing mass was 2.3 x 3.9 x 4.1 cm in diameter. Subsequent MRI abdomen with and without contrast ordered by the referring physician showed that the adrenal mass had grown to 4.9 x 3.8 x 5.4 cm and was hyperenhancing in nature with central T2 hyperintense signal. Notably, multiple “parasitized and arborealized” vessels were detected within the mass. Such findings led us to suspect metastatic versus primary adrenal neoplasm such as cortical carcinoma as a working diagnosis. Other laboratory studies including plasma free metanephrines (<10 pg/mL, normal 0-88 pg/mL), plasma normetanephrines (29.2 pg/mL, normal 0-285.2 pg/mL) and 24-hour urine collections (24 hr urine epinephrine - 3 ug/24 hr [normal 0-20 ug/24 hr]; 24 hr urine norepinephrine - 75 ug/24 hr [normal 0-135 ug/24 hr]; 24 hr urine VMA - 3 mg/24 hr [normal 0-7.5 mg/24 hr]) were negative for pheochromocytoma. As her mass was greater than 4 cm in diameter, surgical referral was then recommended to the patient. Right adrenalectomy was performed. Pathology report was consistent with pheochromocytoma as supported by immunohistochemistry. Ki-67 proliferation index was 0-10% (average 3-4%, rare hotspots 10%). Atrophy and vascular ectasia were present in residual non-neoplastic adrenal cortex and medulla. Histology showed a nested growth pattern, absence of composite tumor elements, absence of necrosis, and no atypical mitoses. The incidence of non-secreting pheochromocytomas has been quoted to be 0.000064% (1). Conclusion: The case illustrates an uncommon presentation of a large, silent pheochromocytoma with negative plasma metanephrines accompanied by negative urine studies, which have a negative predictive value close to 100% in ruling out a pheochromocytoma. Our case emphasizes the importance of considering pheochromocytoma on the differential of adrenal masses with high attenuation or high enhancement even when biochemical studies suggest otherwise. Reference: (1) Radojkovic, D., et al. "CLINICALLY" SILENT GIANT PHEOCHROMOCYTOMA. CASE REPORT." Acta Endocrinologica (1841-0987) 9.1 (2013). Presentation: 6/1/2024

8036 A Rare Case of Cushing’s Syndrome Caused by a Pulmonary Carcinoid Tumor

Abstract Disclosure: A.C. Tep: None. F.M. Wolf: None. Introduction: The most common causes of ectopic ACTH (adrenocorticotropic hormone) syndrome include bronchial carcinoid tumors and other neuroendocrine tumors. Ectopic ACTH syndrome (EAS) can be difficult to diagnose. Differentiating Cushing’s disease and EAS is difficult, as ACTH-secreting tumors are often small and easily missed on imaging. Case Presentation: A 32-year-old male with a history of hypothyroidism presented with a 6-month history of facial rounding. He also noticed a dorsocervical fat pad, muscle weakness in the extremities, easy bruising, and elevated blood pressure progressing over the same period. A 24-hour urine free cortisol was elevated to 1797 mcg. Two salivary cortisol tests performed 1 hour after the patient’s usual bedtime had values of 4.4 ug/dl and > 1.000 ug/dl. Both the urine and salivary cortisol results were exceedingly high. ACTH was elevated (150 pg/ml). An MRI of the pituitary gland was normal without evidence of an adenoma. Frequently, ACTH-secreting pituitary adenomas are small enough that they are missed on MRI; however, given our patient’s rapid clinical presentation, additional imaging was performed to identify an ectopic source. A CT Chest/Abdomen/Pelvis showed a 1.2 cm nodule in the right middle lobe of the lung. The right middle lobe was resected, and pathology revealed a carcinoid tumor. His cortisol levels slowly decreased postoperatively and eventually normalized. At his one-month post-operative visit, his symptoms were all improving but not yet resolved. Discussion: This patient was found to have Cushing's syndrome due to ectopic ACTH production from a pulmonary carcinoid tumor. The patient demonstrated clinical improvement after resection of the tumor. Pulmonary carcinoid tumors are rare neuroendocrine epithelial tumors that account for 2-5% of all lung tumors. The annual incidence of these tumors is 2.3-2.8 cases per million people. Endogenous Cushing's syndrome is either ACTH-dependent or ACTH-independent. In ACTH-dependent Cushing's syndrome, the ACTH can either be from the pituitary or an ectopic source. Once ACTH-dependent disease is confirmed, a pituitary MRI is performed to evaluate for an ACTH-secreting pituitary adenoma; this is called Cushing’s disease. Some patients undergo inferior petrosal sinus sampling to confirm the source is central and to determine laterality before transsphenoidal resection of the adenoma. If the source of ACTH is not from the pituitary, obtaining a CT or MRI of the chest and abdomen locates tumors in most patients. At times a functional study, such as an octreotide or PET-DOTATE scan, is done to confirm the diagnosis before proceeding with surgical resection to avoid unnecessary removal of an incidental tumor. Ectopic ACTH production often causes a more rapid progression of Cushingoid features, which can be a clue to the diagnosis of this condition. Presentation: 6/1/2024

7464 Delayed Diagnosis of Cushing’s Disease after Five Year History of Hirsutism

Abstract Disclosure: E. McBride: None. A.N. Davis: None. G. Elshimy: None. J. Vender: None. Introduction: Women may experience hirsutism for years before seeing a physician or before undergoing diagnostic testing. This case demonstrates that delayed workup of hirsutism can lead to delayed diagnosis and treatment of aggressive Cushing’s disease. Case: A 40-year-old African American female presented for initial evaluation with a 5-year history of hirsutism, which had never been evaluated, and a high cortisol level in the setting of type 2 diabetes mellitus and hypertension. She had a 60lb weight gain over 5 years, progressive hirsutism, easy bruising, and purple striae. Labs were significant for cortisol 23.86mcg/dL, ACTH 67pg/mL, HbA1c 8.9%, DHEAS 347mcg/dL, 17-OH progesterone 102ng/dL. A 1mg dexamethasone suppression test resulted in a non-suppressed cortisol of 12.64mcg/dL. She had an elevated 24 hour urine free cortisol level of 78mcg and an elevated midnight salivary cortisol with values of 474ng/dL and 396ng/dL. An 8mg dexamethasone suppression test resulted in a cortisol of 5.55mcg/dL. MRI brain pituitary protocol revealed a 6x4mm microadenoma of the pituitary gland. This is consistent with an ACTH producing pituitary adenoma (Cushing’s disease). The microadenoma was surgically removed by transsphenoidal approach. The pathology of the tumor revealed an elevated Ki-67 of 5%. Patient required hydrocortisone replacement for a couple of months that was later discontinued. Moreover, she is no longer on any medications for her diabetes, and her hypertension significantly improved postoperatively. Discussion: Hirsutism and androgen excess in women are most commonly caused by polycystic ovarian syndrome (PCOS). However, non-PCOS diagnoses, such as Cushing’s disease, should be considered as they are commonly missed due to lack of a pragmatic screening approach. Pituitary microadenomas are often benign, but 30-40% of cases are invasive and considered aggressive. Aggressiveness can be evaluated by using the tumor marker Ki67, which is a nuclear marker that reflects cell proliferation. While controversial, one proposed cutoff for aggressive pituitary adenomas is Ki67 ≥3%. The pathology of the tumor in this patient was aggressive with Ki67 of 5% This case demonstrates the importance of identifying hirsutism early in order to exclude the more dangerous causes of hirsutism such as Cushing’s disease. By early diagnosis and surgery, we may limit the progression of associated comorbidities such as diabetes mellitus and limit the growth of a potentially aggressive adenoma. Presentation: 6/1/2024

7277 Diabetic Ketoacidosis As The First Manifestation Of Ectopic Cushing’s Syndrome

Abstract Disclosure: R.S. Medeiros: None. Introduction: Ectopic Cushing’s Syndrome (ECS) represents 10-20% of all ACTH-dependent CS, and the majority of cases arise from lung carcinoids. These indolent lesions usually evolve clinically over 6-24 months, whereas carcinomas are associated with faster onset of ECS. Diabetic Ketoacidosis (DKA) as a presenting manifestation of Cushing’s Syndrome (CS) is very rare, with the few cases published to date related to Cushing’s disease. Clinical Case: A 42-year-old woman was admitted in the emergency room with DKA and COVID-19. During stabilization, florid CS was clinically suspected. She reported a 6-month history of secondary amenorrhea, lack of concentration and memory, easy bruising, proximal myopathy with frequent falls evolving to daily life dependency from relatives. She also reported a 2-month diagnosis of dyslipidemia, Diabetes and hypertension, and a diagnosis of atypical pneumonia 6 months ago. Physical exam showed typical cushingoid appearance, especially for marked limb sarcopenia and proximal myopathy. An overnight dexamethasone suppression test (morning cortisol: 25.7 ug/dL), 24h urinary free cortisol (UFC; 1072.5 ug/dL; reference: <176) and serum cortisol at 23h00 (25.5 ug/dL) confirmed CS. ACTH-dependent CS was diagnosed. She had non-suppressible serum cortisol in high dose dexamethasone suppression test, and CRH stimulation test was suggestive of Cushing’s disease only by a 20% rise of cortisol at 30 minutes. Pituitary MRI was normal. Inferior Petrosal Sinus sampling was postponed for several months due to healthcare strikes. The patient started 750 mg of metyrapone in three divided doses but rapidly decreased the dose and stopped it due to clinical resolution of CS, a dramatic improvement of all glucocorticoid-related comorbidities leading to discontinuation of statin, insulin, main oral anti-hyperglycemic and antihypertensive medications, and normal midnight salivary cortisol and 24h UFC. She remained in this eucortisolemic state for 12 months. Thoracic CT scan revealed thymic hyperplasia and a 25x15 mm well-defined nodule in the lingula. A 68Ga-DOTANOC PET/CT showed a single uptake in the same lung region. The patient underwent lingulectomy plus excisional biopsy of interlobar lymph nodes, and pathology revealed a low-grade neuroendocrine tumor (Ki67<2%, <2 mitosis) without involved lymph nodes. The patient is weaning off from physiologic doses of hydrocortisone. Conclusion: DKA can rarely be the presenting manifestation of severe CS, including ECS. Clinicians should suspect on this etiology of DKA based on clinical signs and cumulative morbidity not typical of a young patient. This hint would lead to the expedite implementation of targeted therapies for initial stabilization of the CS patient, and the timely institution of a proper diagnostic approach and definitive treatment of this challenging patients. Presentation: 6/2/2024

8104 Rare Case Of Ectopic Cushing’s Syndrome Secondary To Metastatic Parotid Pleomorphic Adenocarcinoma

Abstract Disclosure: B.S. Neutel: None. P. Manroa: None. Background: Pleomorphic adenocarcinoma of the parotid gland is a rare malignancy and ectopic ACTH secretion from these tumors is very rarely described. We report a case of ectopic Cushing’s syndrome (CS) in such a patient and describe the clinical course. Clinical Case: A 69-year-old female with left parotid pleomorphic adenocarcinoma status post surgery and adjuvant radiotherapy presented to her local hospital approximately 7 months after initial treatment with proximal muscle weakness and near-syncope. Workup revealed profound hypokalemia at 1.6 mmol/L (n 3.5-5.3 mmol/L) along with new-onset hypertension (BP 175/110 mm Hg) and hyperglycemia with a HbA1c 6.5 % (n <5.7%), as well as metabolic alkalosis with a bicarbonate level of >40 mmol/L (n 22-32 mmol/L). A CT scan showed multiple liver metastases and a biopsy confirmed metastatic parotid pleomorphic adenocarcinoma. She was then transferred to our comprehensive cancer center for further management. She reported muscle weakness, easy bruising, and facial edema. She denied acne, hirsutism, or abdominal striae. Endocrine workup revealed a random cortisol of 56 mcg/dL (n 3-18 mcg/dL) and ACTH of 378 pg/mL (n 7.2-63.3 pg/mL). Her AM cortisol level remained unsuppressed at 79.2 and 59.4 mcg/dL (n< 1.8 mcg/dL) after 1 mg and 8 mg overnight dexamethasone suppression tests respectively. Late-night salivary cortisol was 7.9 mcg/dL (n <0.112 mcg/dL). An MRI of the sella was negative for any pituitary lesions. After stabilizing her clinical condition and correcting electrolyte abnormalities, she was started on chemotherapy with paclitaxel and carboplatin by the oncologist. Based on clinical suspicion of ectopic CS, ketoconazole was started and titrated upwards with rapid improvement of blood pressure, hypokalemia, and hyperglycemia. She was discharged home and antihypertensives were tapered off. ACTH staining on the liver biopsy was unable to be performed due to paucity of the specimen. A Ga-68-DOTATATE PET CT revealed increased radiotracer uptake in the liver lesion suggestive of SSTR 2 receptor positivity. Despite initial clinical improvement, her disease progressed with widespread liver, lymph node, and osseous metastases within 3 months necessitating escalating doses of ketoconazole, spironolactone, and potassium supplementation. The patient elected to pursue hospice care due to intolerance to chemotherapy and passed away shortly afterward. Conclusion: Although ectopic CS caused by parotid pleomorphic adenocarcinoma is rare, prompt recognition and treatment is necessary because ectopic ACTH production is associated with poor prognosis in these patients. 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