Syndrome In Men Research Articles

Clinical and Laboratory Positive Predictive Value of Symptom Management of STI in Iran: A Community-Based Survey

Background: The correct diagnosis of sexually transmitted infections (STIs) is the first step in the monitoring and management of these diseases. Objectives: This study was conducted to investigate the clinical and laboratory positive predictive value (PPV) of STI symptom management in Iran. Methods: This cross-sectional study was conducted on 5986 individuals (aged 18 to 50 years) from the general population of Marovdasht (Iran) in several stages: (1) self-reported symptoms of sexually transmitted diseases, (2) evaluation by a doctor, and (3) laboratory examination. Results: Among the population sample, 686 (17.68%) individuals reported at least one of the predefined symptoms. The clinical-based PPV of syndromes in men and women were 67.74 (62.34 - 73.14) and 85.36 (82.76 - 87.96), respectively. In men and women, the highest PPV was observed for abnormal discharge from the anus 32.35 (25.35 - 39.35) and abnormal secretions from the cervix 59.39 (56.39 - 62.39), respectively. The laboratory-based PPV for men and women was 0 and 5.04 (3.04 - 7.4), respectively. Conclusions: The clinical and laboratory-based PPV of STI symptoms in the general population is extremely low. Accordingly, a syndromic-based screening or monitoring approach for STIs is not a reliable tool for screening or monitoring in the Iranian general population. We suggest focusing on special (core) groups for monitoring STIs using laboratory-based methods.

Post-infective neuromuscular hyperexcitability syndrome in a young man with cystic fibrosis: a case report

Post-infective neuromuscular hyperexcitability syndrome in a young man with cystic fibrosis: a case report

Rare Combination of Multiple Endocrine Neoplasia 1 with Medullary Thyroid Carcinoma and Clinical Value of 68Ga-DOTATATE PET/CT in Diagnosing Different Lesions and Exploring Theranostic Strategy

AbstractMultiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by the presence of hyperplastic or neoplastic tumors in the parathyroid, pituitary, and gastroenteropancreatic endocrine tissues. The presence of lesions in at least two out of the three glands (pituitary, parathyroid, and pancreas) is indicative of MEN1 syndrome. Medullary thyroid carcinoma (MTC) is a type of tumor that originates from the parafollicular C cells of the thyroid gland. It is frequently found as part of MEN2 syndrome. MEN1 with MTC is a relatively uncommon occurrence. We report a rare case of MTC that later on developed parathyroid carcinoma, pituitary microadenoma, pancreatic neuroendocrine tumor (NET), and duodenal NET. The case was identified as part of MEN1 syndrome using exome sequencing and somatostatin receptor–based functional imaging 68Ga-DOTATATE positron emission tomography/computed tomography was employed for exploring theranostic strategy in the management of the patient.

Obesity Associated Reproductive and Sexual Syndrome(OARS) in Men.

Obesity, which has emerged as a major global public health challenge, is associated with myriad medical and multisystemic complications. Obesity impacts the male reproductive and sexual function in multiple ways as well. However, perhaps because of the focus on cardiovascular and metabolic health, the gonadal aspects of obesity medicine have not been given due attention. We propose the term OARS to describe obesity-associated reproductive and sexual syndrome in men living with obesity. OARS can be defined as a constellation of functional, hormonal, and structural abnormalities that affect the reproductive and sexual health of such men. The term OARS should attract attention to this neglected field and prompt efforts to prevent and address the needs of men living with obesity.

Refeeding syndrome and vitamin B1 deficiency in a young man with normal body mass index following starvation in the COVID‐19 era

AbstractCOVID‐19 has spread worldwide and significantly influenced economies. Refeeding syndrome (RFS) is a potentially fatal abnormalities of electrolytes and fluid that can occur in malnourished patients undergoing mechanical refeeding. Herein, we report the case of a man in his 20s with a normal body mass index who presented with RFS and vitamin B1 deficiency. Although it was uncommon under normal circumstances, it occurred because of the severe social situations that were prevalent in the COVID‐19 era. In this era, physicians should carefully evaluate their patients' nutritional status to identify those at risk for RFS, even in young individuals.

Parental support for sexual orientation and demoralization syndrome in Chinese gay men: the mediating role of sexual orientation concealment and relational self-esteem

Parental support for sexual orientation and demoralization syndrome in Chinese gay men: the mediating role of sexual orientation concealment and relational self-esteem

7214 A Retrospective Cohort Study on Prevalence Of Pituitary Adenomas in MEN2

Abstract Disclosure: R. Ghosh: None. N. Behiri: None. J. Glod: None. S. Gubbi: None. J. Klubo-Gwiezdzinska: None. Background: Multiple endocrine neoplasia (MEN) syndromes are autosomal dominant and present with tumors in at least two or more endocrine organs. MEN2 syndromes that are driven by germline rearranged during transfection (RET) gene pathogenic variants are divided into 2A consisting of medullary thyroid carcinoma (MTC), parathyroid adenomas and pheochromocytoma and 2B presenting with MTC, pheochromocytoma, marfanoid habitus, mucosal neuromas and gastrointestinal ganglioneuromatosis. Pituitary adenomas have been rarely described in MEN2 and hence we conducted a retrospective chart review to determine their prevalence in MEN2. Methods: Retrospective chart screening of MEN2 patients followed at a tertiary referral center between August 1999- August 2022 was done to evaluate the prevalence of pituitary adenomas using biochemical hormonal evaluation and magnetic resonance imaging (MRI) of pituitary based on screening of clinical symptoms. Results: The study consisted of 91 patients (43 MEN2A and 48 MEN2B), aged 35.3±16.9 years (MEN2A) and 18.6±6.4 years (MEN2B), 20/43 (46.5%) women in MEN2A and 24/48 (50%) women in MEN2B. These patients were followed for median duration of 6.5 years (3.3-22) in MEN2A and 8.5 years (5.4-14.6) in MEN2B. RET mutation status was unavailable for 1 MEN2A patient out of 91 patients. Among MEN2A patients, majority (53.5%) were positive for RET C634X mutation followed by RET 804, 609, 631,620 and 666 mutations in the descending order. While in MEN2B cohort all patients were positive for M918T RET mutation. A total of 4/91 (4.4%) patients were found to have pituitary adenomas (3 MEN2B and 1 MEN2A). One patient had clinically symptomatic ACTH producing microadenoma which was surgically resected, and others have asymptomatic non-functioning adenomas. The patient with Cushing’s disease underwent three transsphenoidal resections leading to complete resolution but developed panhypopituitarism. Prevalence of pituitary adenomas in our cohort was significantly higher than the general population screened based on clinical suspicion (p<0.001). Conclusion: Prevalence of clinically symptomatic pituitary adenomas is 1 in 1000 in the general population (1). It is rarely associated with MEN2 syndromes and only few cases are reported in the literature (2). However, screening of all patients with MEN2 for pituitary adenomas, regardless of clinical suspicion, might lead to incidental discovery of asymptomatic pituitary pathology and can provide the actual prevalence. Further studies are needed to evaluate the genetics of these pituitary adenomas in MEN2 syndromes to investigate whether RET protooncogene is indeed the dominant molecular driver of these tumors.

6981 Atypical hypoglycemia in a teenage boy with prediabetes

Abstract Disclosure: N. Shahid: None. C. salgado: None. N. Gurtunca: None. Background: Hypoglycemia in teenagers is seen less commonly than in younger children. Overweight children with prediabetes presenting with hypoglycemia symptoms are often considered to have reactive post-prandial hypoglycemia due to the degree of hyperinsulinemia with insulin resistance seen in these children. We present a 13-year-old boy with prediabetes, who presented with episodes of altered mental status and was found to have hypoglycemia due to a solitary insulin secreting tumor. Case presentation: A 13-yr old boy with pre-diabetes presented to the ER with altered consciousness and non-ketotic, non-acidotic hypoglycemia [25 mg/dl] & trace ketonuria in the setting of Influenza A infection. Weight and BMI above the 99th%ile and acanthosis nigricans in the skin creases. No access to oral hypoglycemic agents. Urine toxicology was negative. EEG was normal. Euglycemia and level of consciousness restored after IV dextrose & this was considered a possible hypoglycemic seizure episode secondary to poor oral intake. 4 months later he had another episode of altered mental status, jittery movements and was found to be hypoglycemic [41 mg/dl]. He was admitted for further workup of recurrent hypoglycemia. Adrenal insufficiency was ruled out and a diagnostic fast was started. After 15 hours, he developed non-ketotic hypoglycemia [<50 mg/dl]. Critical sample [Table 1] and Glucagon challenge [Table 2] at the termination of the fast confirmed hyperinsulinemic hypoglycemia. Given the unusual age and presentation, an MRI abdomen was done which showed a 1.6 cm lesion in the pancreatic body [Fig 1]. Dotatate whole body PET scan confirmed the insulinoma with no evidence of nodal or distant metastasis [Fig 2]. He underwent surgical enucleation of the insulinoma. Intraoperative secretin showed no evidence of pancreatic duct dilatation or leakage. Hereditary endocrine tumor panel including multiple endocrine neoplasia [MEN] gene analysis was negative. The postoperative course was complicated by a persistent pancreatic leak and pancreatitis eventually requiring an ERCP and stent placement 2 months post operatively. Conclusion: Insulinomas are very rare neuroendocrine tumors in pediatric population, with a prevalence of one in 250,000 and median age at presentation of 45-50 years. About 90% insulinomas are benign and less than 10% are associated with MEN-1 syndrome. Chronic hypoglycemia irrespective of the underlying insulin resistance of prediabetes can be seen with insulinoma and can cause hypoglycemia unawareness as seen in our patient. This has also been reported in literature to be misdiagnosed as refractory epilepsy or psychiatric disorders. Hypoglycemic symptoms at any age should be promptly worked up. Ruling out associated neuroendocrine hereditary tumor syndromes is crucial and prognosis of benign solitary insulinomas after surgical removal is mostly favorable. Presentation: 6/3/2024

12363 A Unique Case Of hüRthle Cell Carcinoma of the Thyroid Gland and Meningioma

Abstract Disclosure: I. Elsayed: None. R. Khan: None. H. Dhaliwal: None. Introduction: MEN1 gene is a tumor suppressor gene on chromosome 11q13 that encodes the nuclear protein menin, which regulates cell growth and cycle. When menin protein is deficient, MEN1 develops. MEN1 mutation usually involves tumors within the parathyroid glands, pancreas, or pituitary. Case Description: A 66-year-old male with past medical history of hypertension, hyperlipidemia, and coronary artery disease presented with sudden onset dizziness, nausea and vomiting for 1 hour. He had similar symptoms on and off for several months, however on the day of presentation, these symptoms were much more acute and severe. Stroke work-up was done including CT and CTA head which revealed a 1.7cm enhancing lesion to R temporal lobe with surrounding edema with an incidental 3 x 3 cm heterogeneous mass in the large portion of the right thyroid gland. Steroids initiated. MRI brain imaging revealed findings consistent with meningioma with local mass effect and pronounced parenchymal edema. Patient underwent successful resection of the mass and pathology confirmed diagnosis of Meningioma, WHO Grade 1. Ear Nose Throat specialist was consulted for incidental thyroid mass. Ultrasound guided Fine needle aspiration biopsy was, Pathology report returned suspicious for follicular neoplasm, Hürthle cell-type. Patient initially underwent right substernal semi-thyroidectomy. Pathology confirmed diagnosis of Oncocytic (Hürthle cell) carcinoma, minimally invasive, 4.3 cm with a single focus of capsular invasion, negative for lymphovascular invasion Discussion: This case presents a 66-year-old male with a rare coexistence of two distinct tumors: a meningioma and a Hürthle cell carcinoma of the thyroid gland. While meningiomas and Hürthle cell carcinoma are not commonly associated with MEN1 syndrome, there have been reports of atypical cases with unusual tumor associations. MEN1 is usually characterized by abnormalities in at least two affected endocrine glands, but variations can involve other endocrine and non-endocrine tumors as well. 25% of thyroid disease can be seen in MEN 1 syndrome; typically papillary thyroid cancer. Only one case in literature found Hürthle cell carcinoma and meningioma in the setting of MEN-1 phenotype. A second case unique case was Hürthle cell carcinoma with metastases to the meninges. The discovery of both a meningioma and a Hürthle cell carcinoma in this patient emphasizes the importance of clinicians being vigilant for the possibility of multiple neoplasms. This case highlights that there may be a relation between role of MEN1 with atypical neoplasms not commonly seen. Presentation: 6/2/2024

7944 Elevated Serum Alkaline Phosphatase without other Abnormalities of Liver Associated Enzymes as an early Indicator of Glucose Intolerance: A Case Series

Abstract Disclosure: B.K. Bowens: None. C. Godar: None. D. LaChance: None. T.D. Hoang: None. M.K. Shakir: None. Glucose intolerance (GI) is defined as dysglycemia and includes impaired fasting glucose, impaired glucose tolerance, and prediabetes. Early detection of GI could lead to appropriate treatment and delay the progression to diabetes mellitus. The cases below detail two patients with elevated serum alkaline phosphatase (ALP) without other liver-associated enzyme abnormalities as an early indicator of GI. Case 1: A 54-year-old woman with a history of multinodular goiter status post thyroidectomy (2020), adrenal incidentaloma (2016), and asthma was incidentally found to have an elevated HbA1C (A1C) of 6.3% on screening labs in 2015. At that time, her ALP was 73 IU/L (ref 44−121). Her ALP levels slowly rose from 88 to 152 IU/L by September 2020. Work up did not reveal any etiological factors for the elevated ALP. One month later, HbA1C was found to be 7.6%. Metformin was initiated with improvement in A1C to 6.3% with an ALP of 130 IU/L. However, metformin was discontinued due to intolerance. In April 2023, her A1C was 9.3% with an ALP of 134 IU/L. A1C rose to 12.8% in Jun 2023 at which time she was started on insulin glargine, insulin aspart, sitagliptin, and was restarted on metformin. Her A1C decreased to 8.6% in August 2023 with normalization of ALP to 88 IU/L. Case 2: A 53-year-old woman with a history of hypertension, hyperlipidemia, obstructive sleep apnea, and non-ischemic cardiomyopathy in 2004 was found to have an elevated A1C of 5.8% on her screening labs in Jun 2019. Her ALP was notably in the high-normal range until Oct 2021 when it was found to be 138 IU/L. Her most recent A1C was 5.9% with an ALP of 142 IU/L. The patient was started on semaglutide (WegovyTM) briefly but was unable to tolerate the side effects. She was then started on metformin 500mg BID and dulaglutide with normalized ALP level. Discussion: Emerging evidence has shown that serum ALP activity is modestly increased in cardiometabolic diseases such as type 2 diabetes, dyslipidemia, hypertension, and peripheral arterial disease. These are increasingly being considered as inflammatory disorders and it has been shown that serum ALP level was positively and independently associated with metabolic syndrome both in men and women. It is possible that ALP could be an indicator of non-alcoholic fatty liver disease (NAFLD) which is associated with GI. Typically, NAFLD presents with higher ALT and GGT, however, occasionally isolated enzyme elevations or no elevated enzymes at all may occur. Conclusion: These cases suggest that an isolated elevation in ALP could be indicative of GI. Patients incidentally found to have an elevated ALP should be worked up further for possible evidence of GI. Early detection of GI could delay progression to diabetes and decrease morbidity. Presentation: 6/1/2024

9220 Machine Learning Methods In Differential Diagnosis Of Genetically Confirmed Multiple Endocrine Neoplasia Type 1 And Its Phenocopies

Abstract Disclosure: D. Trukhina: None. K. Voronov: None. E. Mamedova: None. A. Solodovnikov: None. Z. Belaya: None. Background. MEN-1 is a rare autosomal dominant disorder caused by mutations in the MEN1 gene encoding the menin protein (gMEN1). This syndrome is characterised by the occurrence of parathyroid tumours, gastroenteropancreatic neuroendocrine tumours, pituitary adenomas, and other endocrine and non-endocrine neoplasms. If a patient with the MEN-1 phenotype does not have any mutation in the MEN1 gene, the condition is considered a phenocopy of the syndrome (phMEN1). The goal of this study was to develop a machine learning algorithm to estimate the probability of gMEN-1 vs phMEN-1 based on easily available clinical features at first line differential diagnostics. Materials and methods. A single-center, one-stage, cohort, retrospective study was carried out. Patients were randomly stratified into 2 cohorts: training (80%) and test (20%). Eight machine learning algorithms were used to develop predictive models: Logistic Regression, k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM). Results. The study included 95 patients with genetically confirmed gMEN-1 syndrome and 60 patients with its phenocopies. As a result of preliminary data processing and selection for the most informative features, the final variables for the classification and prediction of gMEN-1 syndrome were identified: the number of affected parathyroid glands, age at diagnostics, pancreatic tumour existence, heredity, type of pituitary adenoma secretion, and gender. The kNN algorithm demonstrated the best diagnostic performance in a training sample (ROC-AUC - 0.96, sensitivity - 84%, specificity - 100%), which was confirmed in a test sample (ROC-AUC - 1.0; sensitivity - 94.4%, specificity - 100%) to determine genetically confirmed MEN-1 syndrome. Conclusion. The k-nearest neighbours (kNN) algorithm may be used as a first-line differential diagnostics method to select patients to be refered for genetic testing for gMEN-1. Presentation: 6/1/2024

7085 Myoclonus Seizure with Pseudo-Adrenal Insufficiency as the Clinical Manifestations Leading to the Diagnosed Multi-focal Insulinomas that Mimic Multiple Endocrine Neoplasia Type 1 Syndrome

Abstract Disclosure: P. Kiatpanabhikul: None. Background: Insulinoma is a rare disease that presents with varying symptoms and can be sporadic or associated with hereditary syndromes (1). These rare points of views of insulinoma-patient on clinical manifestations, hormonal responses and surgical pathology result for final diagnosis and management. Clinical Case: A 59-year-old woman presented with myoclonic seizure of right arm with consciousness duration 5-10 minutes every midday twice a week for 6 months and generalized convulsion for 20 minutes ago. She had a low FPG level (59 mg/dL; n 70-100) and was admitted to doing 72-hour fasting test that revealed hypoglycemia at 12-hour of fasting with a nadir glucose level of 55 mg/dL, insulin 3.7 uIU/mL (cutoff > 5), C-peptide 0.4 ng/mL (cutoff > 0.6), cortisol 6.22 mcg/dL (n 5-25) and normal morning ACTH level (29.8 pg/mL; n 10-65). These were appropriated response of endogenous insulinemia with inappropriate response of serum cortisol level in hypoglycemic feature. MRI pituitary gland was considered to evaluate secondary hypocortisolism which showed a small less enhancing lesion left anterior lobe 0.3x0.45-cm without any pituitary hormonal abnormalities that were considered non-functioning pituitary microadenoma which could not explain inappropriate response of cortisol level to hypoglycemic period in this patient. Five months later, she presented at the emergency room with myoclonic seizure on her extremities, blurred consciousness and slurred speech after having lunch for 1-2 hour and revealed CPG 30 mg%, severe hypoglycemia (26 mg/dL), hypocortisolism (4.49 mcg/dL), with endogenous hyperinsulinemia (insulin 55.2 uIU/mL, C-peptide 2.5 ng/mL). 250-mcg ACTH stimulation test was done and showed normal response of her HPA-axis function (serum cortisol level at 0, 30, 60 min was 9.12, 17.87, 18.61 mcg/dL). CT pancreatic protocol showed several arterial enhancing nodules scattering at pancreatic tails isoattenuation to pancreatic parenchyma on portovenous phase up to 1.7*1.6 cm. She was operated on to distal pancreatectomy with intraoperative insulin/glucose ratio monitoring. Surgical pathology confirmed 4-well-differentiated pancreatic neuroendocrine tumors with insulin-producing, sizes 0.5-1.7 cm in diameter. Her final diagnosis was multi-focal insulinomas with non-functioning pituitary microadenoma that mimic MEN-1 syndrome without secondary adrenal insufficiency. She underwent successful surgical resection with complete resolution of symptoms during 4 years of followed-up with no recurrence and no having any hypercalcemia and hyperprolactinemia. Conclusion: Multi-focal insulinomas can be presented as sporadic, more severe hypoglycemia and endogenous hyperinsulinemia during period after meal with myoclonic seizure and pseudo-adrenal insufficiency in older-aged, non-diabetes person without recurrence after treatment for 4-year of followed-up. Presentation: 6/2/2024

7845 Machine Learning Methods In Differential Diagnosis Of Genetically Confirmed Multiple Endocrine Neoplasia Type 1 And Its Phenocopies

Abstract Disclosure: D. Trukhina: None. K. Voronov: None. E. Mamedova: None. A. Solodovnikov: None. Z. Belaya: None. Background. MEN-1 is a rare autosomal dominant disorder caused by mutations in the MEN1 gene encoding the menin protein (gMEN1). This syndrome is characterised by the occurrence of parathyroid tumours, gastroenteropancreatic neuroendocrine tumours, pituitary adenomas, and other endocrine and non-endocrine neoplasms. If a patient with the MEN-1 phenotype does not have any mutation in the MEN1 gene, the condition is considered a phenocopy of the syndrome (phMEN1).The goal of this study was to develop a machine learning algorithm to estimate the probability of gMEN-1 vs phMEN-1 based on easily available clinical features at first line differential diagnostics. Materials and methods. A single-center, one-stage, cohort, retrospective study was carried out. Patients were randomly stratified into 2 cohorts: training (80%) and test (20%). Eight machine learning algorithms were used to develop predictive models: Logistic Regression, k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM). Results. The study included 95 patients with genetically confirmed gMEN-1 syndrome and 60 patients with its phenocopies. As a result of preliminary data processing and selection for the most informative features, the final variables for the classification and prediction of gMEN-1 syndrome were identified: the number of affected parathyroid glands, age at diagnostics, pancreatic tumour existence, heredity, type of pituitary adenoma secretion, and gender. The kNN algorithm demonstrated the best diagnostic performance in a training sample (ROC-AUC - 0.96, sensitivity - 84%, specificity - 100%), which was confirmed in a test sample (ROC-AUC - 1.0; sensitivity - 94.4%, specificity - 100%) to determine genetically confirmed MEN-1 syndrome. Conclusion. The k-nearest neighbours (kNN) algorithm may be used as a first-line differential diagnostics method to select patients to be refered for genetic testing for gMEN-1. Presentation: 6/1/2024

Efficacy and safety of vancomycin compared with those of alternative treatments for methicillin-resistant Staphylococcus aureus infections: An umbrella review.

To summarize the evidence on the efficacy and safety of vancomycin compared with those of alternative treatments in adult patients with methicillin-resistant Staphylococcus aureus (MRSA) infection. PubMed, Embase, and Web of Science were searched up to December 15, 2023, for systematic reviews and meta-analyses comparing vancomycin with alternative MRSA treatments. Primary outcomes included clinical cure and microbiological eradication rates. Organ-specific safety outcomes were assessed. Summary estimates were recalculated using a random-effects model. Evidence was graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) tool. This study was registered in PROSPERO (CRD42022340359). This umbrella review included 19 studies and 71 meta-analyses (46 efficacy and 25 safety) comparing vancomycin with 10 alternative treatments across different MRSA infection types and populations. GRADE assessment showed that 29.58% of the meta-analyses were of high quality. Linezolid and daptomycin showed higher efficacy in MRSA-induced skin and soft tissue infections and pneumonia (moderate evidence quality) and bacteremia (very low evidence quality), respectively, compared with that of vancomycin. Cephalosporins had a higher risk of nausea, whereas linezolid had a higher risk of nausea, diarrhea, and thrombocytopenia than that of vancomycin. Vancomycin posed a higher risk of rash, pruritus, red man syndrome, and nephrotoxicity than that of alternatives. The quality of evidence supporting the higher efficacy of alternative treatment over vancomycin for MRSA infection was not high. Given varying safety profiles and advancements in therapeutic monitoring, careful consideration of patient-specific factors and pharmacokinetics is crucial when selecting treatment alternatives to vancomycin.

Neuroglycopaenia as the first manifestation of MEN1 syndrome

Insulinoma is a neuroendocrine tumour of islet cells and a rare cause of hypoglycaemia in both adults and the paediatric population, with an incidence is 1–4 cases/million/year. Insulinoma may occur as an isolated tumour or as a component of multiple endocrine neoplasia syndrome 1. In the case presented below, a 15-year-old female patient with no significant medical history was brought to the emergency department by a medical rescue team, exhibiting symptoms of neuroglycopaenia for several hours. After excluding more common causes of hypoglycaemia, insulinoma was suspected. Given the patient’s very young age at onset and a significant family history, laboratory and imaging diagnostics were performed for multiple endocrine neoplasia syndrome 1. Once more common causes have been ruled out, insulinoma should be considered in the differential diagnosis of hypoglycaemia. If the diagnosis of insulinoma is confirmed, the possibility of multiple endocrine neoplasia syndrome 1 should be considered.

Stevens–Johnson syndrome in an Asian man after receiving the third dose of COVID-19 vaccine

Stevens–Johnson syndrome in an Asian man after receiving the third dose of COVID-19 vaccine

Complete pachydermoperiostosis (Touraine–Solente–Gole Syndrome) in a young Yemeni man

Pachydermoperiostosis (PDP) is a rare genodermatosis, caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes, affecting the skin and bones. It is frequently misdiagnosed as acromegaly due to its presentation, which includes digital clubbing, bone thickening, and deep skin creases on the forehead. We report the first Yemeni case of PDP in a 22-year-old man who displayed classic features: digital clubbing, pachydermia (thickening of the skin) with furrowing on the forehead and scalp, bone thickening (hyperostosis) of the fingers, toes, radius, ulna, tibia, and fibula, as well as hyperhidrosis and seborrhea. Although acromegaly was initially considered, the absence of other typical features led to a final diagnosis of PDP. PDP should be considered in patients presenting with acromegaloid features.

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the pervasive physical and cognitive effects of FXTAS, no studies have examined language in symptomatic males and females, limiting utility as an outcome measure in clinical trials of FXTAS. The goal of this work is to determine (a) the extent to which male and female FMR1 premutation carriers with FXTAS symptoms differ in their language use and (b) whether language production predicts FXTAS symptoms. Thirty-one individuals with the FMR1 premutation (21M, 10F), ages 58–85 years with some symptoms of FXTAS, were recruited from a larger cross-sectional study. Participants completed a five-minute monologic language sample. Language transcripts were assessed for rate of dysfluencies, lexical-semantics, syntax, and speech rate. Multivariable linear and ordinal regressions were used to predict FXTAS-associated symptoms, cognitive functioning, and executive functioning. Males and females did not differ in their language use. Language production predicted FXTAS symptom severity, cognitive functioning, and executive functioning. Language production difficulties may co-occur with FXTAS-associated symptoms and may be a viable outcome measure in future clinical trials, with future research needed.

A rare coexistence of intrathyroidal parathyroid gland and papillary thyroid carcinoma in MEN1 syndrome: a clinical, diagnostic and surgical challenge.

A rare coexistence of intrathyroidal parathyroid gland and papillary thyroid carcinoma in MEN1 syndrome: a clinical, diagnostic and surgical challenge.

Rapunzel’s giant hairball: a report of Rapunzel syndrome in a young man

Rapunzel syndrome, a rare form of trichobezoar, is a condition in which an accumulation of hair forms in the stomach and extends to the small intestine. Here we describe a case of a 17-year-old male presenting with gastric outlet obstruction secondary to Rapunzel syndrome, requiring laparotomy and gastrotomy.