Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"Macro-FSH is a rare cause of inappropriately high FSH concentrations.","authors":"Beatrice Mantovani, Rita Indirli, Valeria Lanzi, Iulia Petria, Maura Arosio, Giovanna Mantovani, Edgardo Somigliana, Matteo Vidali, Ferruccio Ceriotti, Emanuele Ferrante","doi":"10.1530/EDM-23-0144","DOIUrl":"10.1530/EDM-23-0144","url":null,"abstract":"<p><strong>Summary: </strong>Assessment of hormone concentrations can be subjected to laboratory pitfalls. Macro-hormones are hormone-autoantibody complexes which are cleared slowly from circulation and cause a false elevation in hormones' concentrations. Macro-prolactin and macro-thyroid-stimulating hormone (TSH) are most frequently encountered while macro-follicle-stimulating hormone (FSH) has been rarely reported. We describe the case of a 30-year-old woman who had a gynaecological consultation due to failure in achieving pregnancy after 8 months of unprotected intercourse. She had regular menses, did not complain of climacteric symptoms and her medical history was unremarkable. Antral follicle count and anti-mullerian hormone concentrations were normal, and regular ovulation was documented. Unexpectedly, high early follicular phase FSH concentrations were confirmed on two occasions (57 and 51 IU/L), raising the suspicion of primary ovarian insufficiency. After excluding Turner's syndrome and autoimmune oophoritis, a laboratory artifact was hypothesized. Following polyethylene glycol precipitation, FSH levels dropped from 41.1 IU/L to 6.54 IU/L (recovery 16%) and the presence of macro-FSH was concluded. Laboratory interference can lead to misdiagnosis and unnecessary treatments. A laboratory artifact should be suspected when inconsistency exists between clinical presentation and laboratory results. Only five other cases of macro-FSH have been reported to date. Although macro-hormones generally have low biological activity and do not require treatment, the role of anti-FSH antibodies has been hypothesized in primary ovarian insufficiency and in vitro fertilization failure.</p><p><strong>Learning points: </strong>Hormone quantification is a cornerstone in the diagnostic workup of endocrine disorders, but it can be subjected to laboratory interferences which can lead to unnecessary investigations and inappropriate treatments. A laboratory artifact should be suspected when a discrepancy is observed between clinical presentation and laboratory results, when extremely unusual analyte concentrations are observed and when inconsistent results are obtained by different analytical methods. Macro-hormones are hormone-autoantibody complexes which are cleared slowly from circulation and cause a false elevation in hormone concentrations. Macro-prolactin and macro-TSH are most frequently encountered, while macro-FSH has been rarely reported. Macro-hormones can be detected by polyethylene glycol precipitation, gel filtration chromatography, or by using protein G or protein A columns. Although macro-hormones generally have low biological activity and do not require treatment, the role of anti-FSH antibodies has been hypothesized in primary ovarian insufficiency and in vitro fertilization failure.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558970/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperglycemia secondary to phosphatidylinositol-3 kinase (PI3K) inhibition.","authors":"Arunan Sriravindrarajah, Joshua Hurwitz, Elgene Lim, Jerry R Greenfield","doi":"10.1530/EDM-24-0040","DOIUrl":"10.1530/EDM-24-0040","url":null,"abstract":"<p><strong>Summary: </strong>Phosphatidylinositol-3 kinase (PI3K) is a critical intracellular pathway that regulates cell growth, metabolism, and survival and has been implicated in most human cancers. Targeting this pathway has been approved as a therapeutic option for breast cancer and lymphoma (e.g. alpelisib, idelalisib), and there are several clinical trials underway in additional types of cancer. However, PI3K is an important mediator of the action of insulin, and the use of PI3K inhibitors has been associated with hyperglycemia. We report the case of a 53-year-old female with metastatic breast cancer who developed acute grade 3 hyperglycemia from a novel PI3K inhibitor, inavolisib. We review the treatment options for PI3K inhibitor-associated hyperglycemia. Treatment strategies that minimize hyperinsulinemia may be preferable considering animal models have demonstrated that hyperinsulinemia may result in partial reactivation of the PI3K pathway and counter the anti-cancer effectiveness of PI3K inhibitors.</p><p><strong>Learning points: </strong>Phosphatidylinositol-3 kinase (PI3K) is an intracellular pathway that regulates a range of physiological functions, including cell growth, metabolism, survival, and angiogenesis. Hyperactivation of the PI3K pathway is associated with almost all human cancers, and thus PI3K inhibition has been proposed as a treatment option for selected cancers. The action of insulin after binding to the insulin receptor on the cell surface (e.g. glucose uptake in skeletal muscle, inhibition of glycogenolysis and gluconeogenesis) is mediated by the intracellular PI3K pathway, and thus PI3K inhibition may lead to hyperinsulinemic hyperglycemia. All patients treated with PI3K inhibitors should receive pre-treatment screening for hyperglycemia, lifestyle advice, and a glucometer to measure fasting BGL and 2-h post-dinner BGL levels twice per week for at least the first 30 days of treatment. Insulin or insulin secretagogues (e.g. sulfonylurea) may inhibit the anti-tumor activity of PI3K inhibitors, and thus treatment of PI3K inhibitor-associated hyperglycemia should prefer alternative approaches such as a low carbohydrate diet, metformin, SGLT2i, or dose reduction of the PI3K inhibitor.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete remission after glucocorticoid therapy in a patient with primary hypophysitis.","authors":"Aysa Hacioglu, Gazanfer Ekinci, Zuleyha Karaca, Uğur Türe, Fahrettin Kelestimur","doi":"10.1530/EDM-23-0125","DOIUrl":"10.1530/EDM-23-0125","url":null,"abstract":"<p><strong>Summary: </strong>Primary hypophysitis is a rare disease that may have variable clinical presentations. The main treatment options are clinical observation, immunosuppressive drugs, and surgery. Glucocorticoids are used as first-line medical therapy; however, non-responsiveness and recurrences are the major problems. We present a 30-year-old male patient who had an excellent radiologic response to a single course of glucocorticoids. The patient presented with malaise and severe headaches of acute onset. Cranial MRI revealed a pituitary mass compressing the optic chiasm. Hormonal evaluation studies were consistent with anterior pituitary hormone dysfunction except for the growth hormone axis. There was a mild compression on the optic chiasm in the pituitary MRI. The patient was started on methylprednisolone therapy at a dose of 80 mg/day. The pituitary MRI revealed complete regression of the mass after 2 months, and there was a complete recovery of pituitary functions after 6 months. There is no consensus on the optimal dose and duration of glucocorticoid therapy for primary hypophysitis in the literature. We report that steroid therapy, even in lower doses, might be effective in mild-to-moderate cases.</p><p><strong>Learning points: </strong>Primary hypophysitis is a rare disease with a varied clinical course, and hence the treatment strategies should be individualized. There is no consensus on the optimal dose and duration of glucocorticoid therapy. Glucocorticoid therapy may induce complete remission in some patients, especially with a mild-to-moderate disease course and during the acute phase of the disease.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142407000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperthyroidism in thyroid carcinoma originating in struma ovarii.","authors":"Juliana Bezerra Mesquita, Rosa Paula M Biscolla","doi":"10.1530/EDM-24-0082","DOIUrl":"10.1530/EDM-24-0082","url":null,"abstract":"<p><strong>Summary: </strong>Thyroid carcinoma originating in Struma Ovarii (SO) is a rare thyroid ectopic cancer that accounts for 0.01% of all ovarian malignancies and is associated with hyperthyroidism in less than 15% of cases. In a 44-year-old patient with pelvic pain, the CT scan revealed a solid-cystic formation in the ovarium. A left oophorectomy was performed and showed a borderline serous tumor and papillary thyroid carcinoma ('thyroid carcinoma originating in Struma Ovarii') measuring 10 cm. Thyroid function was assessed, and hyperthyroidism was diagnosed. Surgical complementation and a pelvic re-approach were performed. The histological findings showed a papillary thyroid carcinoma in the uterine serosa and the right adnexa. Thyroid function was re-evaluated, and despite normal thyroid function, the TRAb test remained positive. The patient underwent total thyroidectomy and radioiodine therapy (RIT), after which the TRAb test became negative. During 3 years of follow-up, no evidence of tumor was observed. In our case of thyroid carcinoma originating in SO, hyperthyroidism was treated with ovarian surgery, total thyroidectomy, and RIT. It is worth noting that thyroid function was normalized after ovarian surgery, but the TRAb test only became negative after total thyroidectomy. We hope to draw attention to the importance of evaluating thyroid function in patients with SO and treating high-risk SO patients with RIT after total thyroidectomy to achieve disease remission.</p><p><strong>Learning points: </strong>Struma ovarii can cause hyperthyroidism. Thyroid carcinoma can originate in Struma Ovarii. Differentiated thyroid carcinoma and hyperthyroidism originating in Struma Ovarii are rare conditions.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A carefully planned resistance training program improves strength, fitness and depressive symptoms for a woman with type 2 diabetes.","authors":"Mario I Hernandez, Ansley B Devine, Joseph Ramsey, Emily Dow, Carol S Johnston","doi":"10.1530/EDM-24-0091","DOIUrl":"10.1530/EDM-24-0091","url":null,"abstract":"<p><strong>Summary: </strong>Depression in type 2 diabetes (T2D) is estimated at 50% vs 18% among US adults, and markers of inflammation, which are tightly linked to hyperglycemia, are 5- to 50-fold higher in adults with T2D. Although lifestyle modifications are recommended for managing diabetes, resistance training (RT) is not commonly considered. This case report examined the practicality of implementing a structured RT protocol in a highly sedentary woman with T2D and depressive symptomology and assessed changes in strength, fitness, depression, and inflammation. The 59-year-old participant (body mass index: 38.1 kg/m2) was diagnosed in 2015. She had hypertension and bronchial asthma, was highly sedentary, and was clinically depressed based on validated measures: The Center for Epidemiological Studies Depression (CES-D) questionnaire and the Profile of Mood States (POMS) questionnaire. She had quit smoking 6 months earlier. The estimated 1RM guided the exercise prescription that used progressive overload to improve strength and promote the accretion of lean body mass. All exercise sessions (~45 minutes duration; 3× weekly) were supervised by trained personnel. After 8 weeks, total strength improved 135%. Heart rate was reduced by 14%, and depression symptomology fell into normal ranges. Although RT improved strength, fitness, and depressive symptomology, RT did not improve HbA1c, HOMA-IR, or inflammation emphasizing the need for a comprehensive treatment strategy. Simple assessments can be performed to determine the fitness and mental health of individuals with T2D, and incorporating an exercise prescription to standard care to address these key health determinants will empower patients to actively engage in their health care.</p><p><strong>Learning points: </strong>A progressive, individualized resistance training program is feasible and improves muscular strength, fitness level, and mental health in a high-risk individual with type 2 diabetes and multiple comorbidities. Flexibility with resistance training prescription to adapt to patient's needs and abilities contributes to exercise adherence and successful outcomes Physical activity assessment and exercise prescription should be a part of standard care for patients with diabetes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical presentation of Cushing's disease with weight loss and hypokalemia.","authors":"Sarah Badawod, Barna De, David B Clarke, Syed Ali Imran","doi":"10.1530/EDM-24-0011","DOIUrl":"10.1530/EDM-24-0011","url":null,"abstract":"<p><strong>Summary: </strong>ACTH-secreting pituitary adenomas causing Cushing's disease (CD) typically present with weight gain, whereas weight loss and hypokalemia in endogenous Cushing's patients are suggestive of ectopic ACTH production. We report a case of CD presenting with atypical features of marked weight loss and hypokalemia. A 75-year-old female was admitted to the hospital with a history of profound weight loss, associated with uncontrolled hypertension, hyperglycemia, severe proximal muscle weakness, and hypokalemia. Subsequent investigations, including 24-h urinary free cortisol, 48-h low-dose dexamethasone suppression test, MRI of the sella, and bilateral inferior petrosal sinus sampling, confirmed CD without any evidence of ectopic ACTH production. She became eucortisolemic with medical therapy of ketoconazole and cabergoline, subsequently regained her weight, and became normokalemic. This case illustrates that patients with CD may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production.</p><p><strong>Learning points: </strong>Patients with CD do not always present with classical clinical features and may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production. While most patients with CD typically lose weight after biochemical remission, some patients gain weight after the normalization of cortisol levels. This case highlights the need to entertain a broad differential in patients presenting with hypokalemia and weight loss and the need to exclude hypercortisolemia.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.","authors":"Saohoine Inthasot, Julien Vanderhulst, Peter Janssens, Sien Van Daele, Evelien Van Hoof, Cyrielle Kint, Laura Iconaru, Jeroen de Filette","doi":"10.1530/EDM-24-0065","DOIUrl":"10.1530/EDM-24-0065","url":null,"abstract":"<p><strong>Summary: </strong>Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption. We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy. His main complaints were nocturia and an unintentional 5 kg weight loss in 1 year. A 24-h urinary collection revealed overt glucosuria (23.3 g/1.73 m2/24 h), generalized aminoaciduria, and increased uric acid excretion (fractional excretion: 6.4%). Whole-exome sequencing revealed a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene. Specific analysis of the maturity-onset diabetes of the young type (MODY) gene panel showed no pathogenic variants in the hepatocyte nuclear factor-1A (HNF-1A; MODY3) nor in other MODY-associated genes. We assume that the association of glucosuria, aminoaciduria, and increased uric acid excretion can be explained by the combination of diabetes and the likely pathogenic SLC5A2 variant in this patient. In conclusion, we describe a well-controlled diabetic patient with FRG, associated with a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene.</p><p><strong>Learning points: </strong>The diagnosis of a renal tubular disorder should be considered in patients with unexplained glucosuria and diabetes mellitus, especially if the latter is well controlled. FRG usually presents with glucosuria but may be associated with generalized aminoaciduria and hyperuricosuria. Genetic analysis should be considered in patients with young-onset diabetes and glucosuria, particularly with a positive family history.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First reported case of multiple endocrine neoplasia type 1 in an Australian Aboriginal.","authors":"Edward Mignone, Kirsten Neal","doi":"10.1530/EDM-24-0004","DOIUrl":"10.1530/EDM-24-0004","url":null,"abstract":"<p><strong>Summary: </strong>Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.</p><p><strong>Learning points: </strong>Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical diversity of primary hypothyroidism presenting as a spontaneous ovarian hyperstimulation syndrome.","authors":"Krishna Prabha, K Felix Jebasingh, Vaibhav Londhe, Nihal Thomas","doi":"10.1530/EDM-23-0084","DOIUrl":"10.1530/EDM-23-0084","url":null,"abstract":"<p><strong>Summary: </strong>Ovarian hyperstimulation syndrome (OHSS) usually occurs in patients undergoing assisted reproduction techniques and ovulation induction. Its variant, spontaneous ovarian hyperstimulation syndrome, a potentially life-threatening disorder, is uncommon and only a few cases have been reported in association with hypothyroidism. This study analysed five patients with untreated chronic hypothyroidism presenting with multicystic ovaries, isosexual precocious puberty, and delayed bone age; subsequently, the follow-up and regression of ovarian pathology was assessed. Two patients had presented to the emergency department with menorrhagia and hypotension, of these, one had ovarian torsion at presentation. Three patients presented to the outpatient department: one for evaluation of short stature, one for premature menarche, and another with polycystic ovaries. They were all diagnosed with long-standing, untreated chronic hypothyroidism. There was regression of the size of the cystic ovaries on subsequent follow-up. In all these patients, long-standing hypothyroidism had resulted in ovarian hyperstimulation syndrome. The potentially life-threatening complications of this syndrome may be prevented by careful screening and a strong index of clinical suspicion at the outset.</p><p><strong>Learning points: </strong>Long-standing, untreated primary hypothyroidism may result in spontaneous ovarian hyperstimulation syndrome. A high index of suspicion is required for an early and accurate diagnosis. The requirement for interdepartmental collaboration between gynaecology and endocrinology departments is essential for the successful management of this life-threatening but easily treatable disorder.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain metastasis mimicking a cavernous angioma as initial presentation of papillary thyroid carcinoma.","authors":"Ines Bucci, Cesidio Giuliani, Giulia Di Dalmazi, Daniele Intraina, Donato Zotta, Alfio Ieraci, Livio Presutti, Giorgio Napolitano","doi":"10.1530/EDM-24-0023","DOIUrl":"10.1530/EDM-24-0023","url":null,"abstract":"<p><strong>Summary: </strong>Brain metastases as the first clinical presentation of a papillary thyroid carcinoma (PTC) are exceptional, while cavernous angiomas are common cerebral malformations. We report the case of a 36-year-old male with an incidental brain lesion mimicking a cavernous angioma on MRI. Gamma knife radiosurgery was performed, but after 6 months, the patient developed neurological symptoms, and a repeat brain MRI revealed a significant increase in the mass. The patient underwent neurosurgery, and the histological examination of the lesion revealed metastatic carcinoma of thyroid origin. PET-CT and neck ultrasound, subsequently performed, were concordant for the presence of a right lobe nodule and ipsilateral lymph nodes, both with ultrasound features suspicious of malignancy. Total thyroidectomy with central and right lateral neck dissection was performed, and histology confirmed an intrathyroidal multifocal PTC with lymph node metastases. Postoperative radioiodine was administered, and focal uptake within the thyroid bed, without distant metastases or brain remnants, was found on the post-therapeutic whole-body scan. At 2 years from diagnosis, the patient is in good health and undergoes clinical and imaging follow-up.</p><p><strong>Learning points: </strong>Brain cavernous angiomas are common cerebral vascular malformations that are usually diagnosed by MRI. Despite the high accuracy of MRI, the exam is not pathognomonic, and misdiagnosis cannot be excluded. Brain metastases from PTC are very rare; however, they can mimic a cavernous angioma. Therefore, the differential diagnosis should always be considered.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}