Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.","authors":"John J Orrego, Joseph A Chorny","doi":"10.1530/EDM-24-0073","DOIUrl":"10.1530/EDM-24-0073","url":null,"abstract":"<p><strong>Summary: </strong>Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle. 0.6-3.1% of individuals with pheochromocytoma/paraganglioma (PCC/PGL) carry a germline variant in the FH gene. Most of these patients have no personal or family history of HLRCC-associated manifestations, but some of them do. We described a female-to-male transgender with HLRCC who presented with large symptomatic uterine leiomyomas in the third decade of life and was diagnosed with a PCC 19 years after hysterectomy and with cutaneous leiomyomas and an aggressive form of RCC in the sixth decade of life. With the publication of this case and the review of the existent literature, and until more information becomes available, we would like to emphasize that clinicians should be aware of the possible connection between HLRCC and PCC/PGL, that genetic testing for susceptibly genes for PCC/PGL should include the FH gene and finally that patients with HLRCC should be screened for PCC/PGL.</p><p><strong>Learning points: </strong>HLRCC, an autosomal dominant condition caused by germline P/LP variants in the fumarate hydratase (FH) gene, is characterized by multiple cutaneous and uterine leiomyomas and RCC.0.6-3.1% of individuals with PCC/PGL carry a germline P/LP variant in the FH gene.Most of these patients have no personal or family history of HLRCC-associated manifestations, but some of them do.Preliminary evidence suggests that genetic testing for susceptibly genes for PCC/PGL should include the FH gene and that patients with HLRCC should be screened for PCC/PGL.Until more information becomes available, we suggest doing a full history, physical, family history, and screen for HLRCC-associated manifestations when there is an FH variant.Screening for PCC/PGL in patients with HLRCC could potentially include a baseline whole-body MRI and plasma fractionated metanephrines.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869711","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":"Reversible suppression of hypothalamo-pituitary-adrenal axis in Addison's disease due to ethinyl oestradiol-induced increase in total cortisol.","authors":"Krzysztof C Lewandowski, Monika Głuchowska, Małgorzata Karbownik-Lewińska, Andrzej Lewiński","doi":"10.1530/EDM-24-0055","DOIUrl":"10.1530/EDM-24-0055","url":null,"abstract":"<p><strong>Summary: </strong>An oral contraceptive pill (OCP)-induced increase in total cortisol lead to reversible suppression of the hypothalamic-pituitary-adrenal (HPA) axis and insulin resistance (IR) in a patient with Addison's disease. We suggest that this might influence the choice of an OCP in such patients. A 20-year-old female was diagnosed with Addison's disease (cortisol: 44 nmol/L, adrenocorticotropic hormone (ACTH): >500 pg/mL) and started on hydrocortisone (HC). Few months later, an OCP (30 μg ethinyl oestradiol (EE) and 3 mg drospirenone) was added. Total cortisol was above the upper assay detection limit (UADL), while ACTH was inappropriately 'normal': cortisol 8:00 (pre-dose) 83 nmol/L, post-dose 10:00 >1757 nmol/L, ACTH 8:00 (pre-dose) 24.1 pg/mL and post-dose 10:00 3.8 pg/mL. Even 5 mg of oral HC induced an increase in cortisol above UADL. The glucagon stimulation test (GST) showed brisk growth hormone secretion. The corticotropin-releasing hormone (CRH) test showed partial hypothalamic suppression of CRH release: minimal ACTH 42.4 pg/mL and maximal ACTH 87.3 pg/mL, i.e. relatively low levels for all cortisol concentrations <69 nmol/L. Withdrawal of the OCP resulted in the return of high ACTH concentrations typical for patients with Addison's disease on HC replacement. There was also a marked improvement in insulin resistance (a fall in homeostasis model assessment - insulin resistance (HOMA-IR) from 3.64 to 1.69 and a marked decline in mean insulin concentrations during GST). EE administration resulted in a massive increase in total cortisol with suppression of the HPA axis and IR suggestive of relative hypercortisolaemia. This raises the question of whether EE should be avoided as a contraceptive agent in women with adrenal failure.</p><p><strong>Learning points: </strong>An OCP containing 30 μg EE induced relative and reversible hypercortisolaemia in a patient with Addison's disease with evidence of suppression of ACTH secretion on dynamic pituitary function tests.We suggest that, in some patients with adrenal failure, EE administration may lead to unrecognised relative hypercortisolaemia and IR.There is literature evidence that, in patients with Addison's disease, EE may decrease cortisol clearance.These alterations are reversible upon EE withdrawal and may have implications for the choice of a contraceptive agent in women with Addison's disease.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865794","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":"Primary hyperparathyroidism due to a giant parathyroid adenoma presenting with pathological fractures and multiple brown tumors.","authors":"Jassy Meng, Wedyan M Aboznadah, Marc Pusztaszeri, Vincent Larouche","doi":"10.1530/EDM-24-0054","DOIUrl":"10.1530/EDM-24-0054","url":null,"abstract":"<p><strong>Summary: </strong>Primary hyperparathyroidism (PHPT) is a disorder in which excessive parathyroid hormone (PTH) is secreted from the parathyroid glands. The cause of PHPT is most commonly parathyroid lesions such as parathyroid adenoma. The clinical manifestations of PHPT include hypercalcemia, nephrolithiasis, bone disease and rarely pathological fractures and brown tumors, which arise within the foci of osteitis fibrosa. Brown tumors are benign intraosseous tumors that occur because of excessive osteoclast activity. Because of advances in medical care, early diagnosis and treatment have meant that diagnosing PHPT in the setting of multiple brown tumors is particularly rare. Here, we present a case of a young man with prolonged PHPT from a giant parathyroid adenoma with multiple brown tumors causing pathological fractures. Definitive treatment of PHPT is parathyroidectomy with particular attention to the risks for hungry bone syndrome (HBS) postoperatively.</p><p><strong>Learning points: </strong>Pathological fractures from brown tumors are a rare but significant concern in prolonged PHPT, and a multidisciplinary approach is required including orthopedic surgery, otolaryngology and endocrinology.It is important to assess PTH and calcium in the context of hypercalcemia with bone lesions to avoid potential diagnostic delays.Postoperative parathyroidectomy patients with large parathyroid adenomas, elevated alkaline phosphatase, elevated PTH and the presence of brown tumors are at particularly high risk for HBS.Very high levels of PTH, calcium, alkaline phosphatase and multiple brown tumors should raise concern for a potential case of parathyroid carcinoma.Indications for genetic testing for inheritable parathyroid disease include patients younger than 30 years old, those with multigland disease, those with a family history of hypercalcemia or syndromic disease and those with atypical parathyroid adenoma and parathyroid carcinoma.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865792","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":"Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.","authors":"Luke Vroegindewey, John Kim, Dennis J Joseph","doi":"10.1530/EDM-24-0020","DOIUrl":"10.1530/EDM-24-0020","url":null,"abstract":"<p><strong>Summary: </strong>HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.860C>A with a predicted amino acid substitution p.Ala287Asp. This hitherto unreported missense GATA mutation was characterized by a relatively late-onset and milder phenotype of the HDR triad.</p><p><strong>Learning points: </strong>GATA3 gene mutations located on chromosome 10p cause haploinsufficiency of the GATA3 protein affecting fetal development of the parathyroid glands, inner ear and renal anomalies, resulting in HDR syndrome with an autosomal dominant inheritance pattern.Also known as Barakat syndrome, it has been reported in less than 200 cases with an identified mutation, each having a varied phenotypic presentation without consistent genotypic correlation.We present a patient with HDR syndrome who tested positive for a novel mutation c.860C>A, resulting in a missense substitution of amino acids p.Ala287Asp in the GATA3 gene.Clinicians who identify this rare triad of hypoparathyroidism, sensorineural deafness and renal anomalies should further investigate with genetic testing for GATA3 mutations.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865783","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":"Challenges in diagnosis and treatment of KCNJ11-MODY.","authors":"Juliana Gonçalves, Helena Urbano Ferreira, Sara Ribeiro, Diogo Fernandes da Rocha, Selma B Souto, Jorge Pedro, Paula Freitas, Joana Queirós","doi":"10.1530/EDM-24-0048","DOIUrl":"10.1530/EDM-24-0048","url":null,"abstract":"<p><strong>Summary: </strong>Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes and a rare type of diabetes, which accounts for 1-5% of cases and is often underdiagnosed. The importance of its diagnosis lies in the potential implications that it can have on disease management and offspring. We report a de novo KCNJ11-MODY case and the process of transition from insulin to sulfonylureas. A 24-year-old Caucasian woman was referred to the Endocrinology Department on account of newly diagnosed diabetes mellitus. Her past medical history was unremarkable; however, her family history was relevant, as three grandparents had diabetes. Blood tests showed elevated haemoglobin A1c (10.7%) and fasting glucose (278 mg/dL), prompting the initiation of insulin therapy. Further tests revealed a normal C-peptide level (2.75 ng/mL) and negative anti-glutamic acid decarboxylase and anti-insulin antibodies. The examination of past medical records revealed pre-diabetes since the age of 13. Genetic testing identified a heterozygous pathogenic variant p.(Glu227Lys) in the KCNJ11 gene. Excellent glycaemic control was achieved upon initiation of gliclazide, leading to the withdrawal of insulin treatment. KCNJ11-MODY is an extremely uncommon subtype of MODY, with only a few reported cases worldwide. This case is important, as it supports the use of sulfonylureas as an effective treatment for KCNJ11-MODY.</p><p><strong>Learning points: </strong>De novo KCNJ11 variants challenge MODY calculators.Gliclazide is safe, is effective in the long term and improves quality of life.Precision medicine is essential in the management of diabetes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865695","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":"Thyroid metastasis from ovarian clear cell carcinoma.","authors":"Rika Sasaki, Haruhiko Yamazaki, Eita Kumagai, Soji Toda, Aya Saito","doi":"10.1530/EDM-24-0086","DOIUrl":"10.1530/EDM-24-0086","url":null,"abstract":"<p><strong>Summary: </strong>A 56-year-old woman with cervical pain with a history of ovarian clear cell carcinoma stage IIIC was admitted to a primary care doctor. Ultrasonography revealed a microhyperechoic nodule in the thyroid gland and cervical lymph node enlargement, and fine-needle aspiration was performed. The results showed malignancy, and she was admitted to our hospital. The differential diagnoses included primary thyroid neoplasms and thyroid metastases from ovarian clear cell carcinoma. A needle biopsy of the thyroid gland was performed. Immunohistochemistry revealed that the tumor cells were positive for cytokeratin AE1/AE3, hepatocyte nuclear factor-1-beta and PAX8 and negative for thyroglobulin and thyroid transcription factor-1. Therefore, we diagnosed the patient with thyroid metastasis from ovarian clear cell carcinoma. There were no compressive symptoms at the time of the visit to our hospital, and surgery was considered unnecessary. Systemic treatment for ovarian clear cell carcinoma was continued. Three months later, she died of a stroke due to Trousseau's syndrome.</p><p><strong>Learning points: </strong>Metastasis of ovarian carcinoma to the thyroid gland is extremely rare.Using histology and immunostaining, we were able to accurately diagnose thyroid metastasis of ovarian clear cell carcinoma.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865796","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":"Extra-adrenal adrenocortical cancer associated with multiple endocrine neoplasia type 1.","authors":"Deirdre Green, Kate Richards, Brendan Doyle, Chris Thompson, Arnold Hill, Michael W O'Reilly, Mark Sherlock","doi":"10.1530/EDM-23-0068","DOIUrl":"10.1530/EDM-23-0068","url":null,"abstract":"<p><strong>Summary: </strong>Adrenocortical carcinoma (ACC) is a rare malignant tumour arising from the adrenal cortex, with an estimated annual incidence of one to two patients per million. Ectopic ACCs are extremely rare. The majority of ACCs are sporadic; however, ACC has been linked with genetic disease processes, including multiple endocrine neoplasia type-1 (MEN-1). We present the case of a 66-year-old lady referred with newly diagnosed diabetes on a background of primary hyperparathyroidism. Examination revealed Cushingoid features, and hormonal evaluation confirmed ACTH-independent Cushing's syndrome. Morning cortisol after a 1 mg overnight dexamethasone suppression test was 548 nmol/L with an undetectable ACTH <3.0 pg/mL. Dehydroepiandrosterone sulphate was 5.3 μmol/L and androstenedione 3.49 nmol/L, both of which were normal. Testosterone was suppressed at <0.4 nmol/L. Imaging revealed a 6 × 6 × 4.5 cm right-sided presumed adrenal lesion, a pancreatic lesion (2.5 × 1.6 cm), and bilateral pulmonary nodules (0.9 × 0.8 cm, 0.7 × 0.6 cm, 0.3 cm). Right adrenalectomy was performed, and histology was consistent with an extra-adrenal ACC (Weiss score 5/9) within the peri-adrenal adipose tissue. The resected adrenal gland was normal. Lung biopsy confirmed metastatic ACC tissue, and endoscopic ultrasound-guided biopsy of the pancreatic lesion revealed a pancreatic neuroendocrine tumour, which was confirmed biochemically to be an insulinoma. Genetic assessment confirmed MEN-1. This case highlights the importance of screening for MEN-1 in at-risk patients and the need for close clinical follow-up. To our knowledge, this is the first case report of extra-adrenal ACC in MEN-1 syndrome.</p><p><strong>Learning points: </strong>Adrenal lesions in MEN-1 syndrome have significant malignant potential. Newly diagnosed lesions should be followed closely with short-interval imaging, and a lower threshold for surgical removal is suggested. Primary hyperparathyroidism is often the earliest laboratory or clinical manifestation of MEN-1 syndrome. A detailed medical and family history is vital in order to appropriately identify patients at risk of MEN-1. To our knowledge, this is the first case report of extra-adrenal adrenocortical carcinoma in MEN-1 syndrome.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751128","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":"Adrenocortical insufficiency after bilateral adrenal hemorrhage due to anticoagulation and chronic immunothrombocytopenia.","authors":"Sophie Charlotte Hintze, Felix Beuschlein","doi":"10.1530/EDM-24-0034","DOIUrl":"10.1530/EDM-24-0034","url":null,"abstract":"<p><strong>Summary: </strong>Adrenocortical insufficiency is defined as the clinical manifestation of chronic glucocorticoid and/or mineralocorticoid deficiency due to failure of the adrenal cortex. It may result in an adrenal crisis, which is a life-threatening disease; thus, prompt initiation of therapy with hydrocortisone is necessary. Symptoms such as hypotension, weight loss, or fatigue are not specific, which is why diagnosis is delayed in many cases. Our patient suffered from immune thrombocytopenia (ITP), an acquired thrombocytopenia caused by an autoimmune reaction against platelets and megakaryocytes. Primary ITP, in which no triggering cause can be identified, must be distinguished from secondary forms (e.g. in the context of systemic autoimmune diseases, lymphomas, or (rarely) by drugs). Patients may be asymptomatic at presentation or may present with a range of mild mucocutaneous to life-threatening bleeding. Here, we report on a 43-year-old woman who had developed adrenocortical insufficiency due to bilateral hemorrhage in the adrenal glands. Because of anticoagulation with phenprocoumon after pulmonary embolism and thrombocytopenia on the basis of ITP, the patient had an increased risk of bleeding. Due to the nonspecific and ambiguous symptoms of adrenocortical insufficiency, prompt diagnosis remains a challenge.</p><p><strong>Learning points: </strong>Hypocortisolism or adrenal crisis with nonspecific symptoms, especially abdominal and gastrointestinal, is often misinterpreted. Diagnosis of adrenal insufficiency is often delayed because of the initial ambiguous presentation; physicians must be aware to avoid adrenal crisis. Especially in patients with several risk factors for bleeding, unusual bleeding manifestations, such as adrenal hemorrhage, must be considered. Immediate treatment is necessary by substituting hydrocortisone in a higher dosage, and in most cases, fludrocortisone. During the course of treatment, the amount of hydrocortisone can be reduced to a substitution dosage (15-25 mg/day divided into two to three doses/day). Fludrocortisone should be continued at a dosage of 0.05-0.1 mg/day, depending on blood pressure and sodium and potassium levels. All patients should carry a medical alert notification or a steroid emergency card. In the case of trauma, surgery, or other stressful events, hydrocortisone must be administered in higher dosages (e.g. 100 mg i.v.).</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695977","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 thyroid tests in an athlete treated for hypothyroidism as the first symptom of pituitary dysfunction due to relative energy deficiency.","authors":"Monika Skrzypiec-Spring, Justyna Kuliczkowska-Płaksej, Adam Szeląg, Marek Bolanowski","doi":"10.1530/EDM-24-0066","DOIUrl":"10.1530/EDM-24-0066","url":null,"abstract":"<p><strong>Summary: </strong>Relative energy deficiency in sport occurs in athletes who have limited energy availability. Its typical features include reversible suppression of the hypothalamic-pituitary-gonadal axis. In addition, it may be accompanied by hepatic resistance to growth hormone, leading to a decrease in insulin-like growth factor 1 and dysregulation of the hypothalamic-pituitary-thyroid axis. We present the clinical case of a 33-year-old athlete previously treated effectively for hypothyroidism, who presented with low thyroid-stimulating hormone, low free triiodothyronine, and normal free thyroxine. Based on diet and training interviews and further laboratory tests, dysregulation of the hypothalamic-pituitary-thyroid axis and reversible hypogonadism due to insufficiency of energy available to support energy expenditure were revealed. We also discuss here challenging diagnostic dilemmas that may appear in athletes of normal body weight but result from insufficient energy supply in relation to demand, and review the literature for the clinical course and possible mechanisms underlying the relative energy deficiency.</p><p><strong>Learning points: </strong>Atypical thyroid function tests in athletes may be the first manifestation of reversible pituitary dysfunction due to relative energy deficiency. Typical symptoms of relative energy deficiency include reversible suppression of the hypothalamic-pituitary-thyroidal axis and hypothalamic-pituitary-gonadal axis. Relative energy deficiency may occur in all people who train intensively, regardless of their body weight and BMI, as well as in people who have rapidly lost weight as a result of a low-calorie diet and intense exercise.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548109","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 case of severe Covid-19 infection as the first manifestation of Cushing's disease.","authors":"Maria Leonor Guia Lopes, José Pedro Cidade, Carolina Antunes, Clotilde Limbert, João Sequeira Duarte","doi":"10.1530/EDM-24-0043","DOIUrl":"10.1530/EDM-24-0043","url":null,"abstract":"<p><strong>Summary: </strong>Cushing's disease (CD) is characterized by distinct syndromic features, often accompanied by obesity and depression. However, considering its gradual onset of symptoms, it is usually associated with diagnostic delays. In rare instances, CD may lead to severe infections due to the observed immunosuppression in affected individuals. We present a rare case of an undiagnosed CD in a 20-year-old male with a medical history of depression and obesity, complicated by severe COVID-19 infection. He presented to the Emergency Room with respiratory distress, hypertensive crisis, and fever, ultimately receiving the diagnosis of SARS-CoV-2 pneumonia. The patient required mechanical ventilation and intensive care unit (ICU) admission due to severe acute respiratory distress syndrome (ARDS). During ICU care, he received remdesivir and dexamethasone, subsequently developing severe hyperglycemia and worsened hypertension, requiring insulin and multiple antihypertensive agents to manage metabolic disruption. Upon physical examination, classic signs of hypercortisolism were noted. Subsequent laboratory tests and pituitary magnetic resonance imaging confirmed the diagnosis of CD. The patient underwent surgical resection with significant improvements in body composition and metabolic parameters postoperatively. After surgery, remission of hypercortisolism was evident, accompanied by notable improvements in mood and overall health. This case underscores the importance of recognizing hypercortisolism in the context of metabolic, physical, and mood changes. Timely diagnosis of CD is crucial to mitigate complications such as severe opportunistic infections and their outcomes.</p><p><strong>Learning points: </strong>Despite some hallmark features such as proximal myopathy, easy bruising, purple striae, and facial plethora, Cushing's disease (CD) is a challenging diagnosis due to its nonspecific signs and symptoms and gradual onset. The case emphasizes the importance of recognizing subtle signs of CD, such as social isolation, depressive symptoms, and changes in body composition, which may be confounded by external factors like the COVID-19 pandemic. Patients with CD are prone to severe infections due to chronic hypercortisolism-induced immunosuppression. CD diagnostic delays are common, leading to worsening of metabolic and immune dysfunction over time. Heightened clinical suspicion and early intervention are essential to prevent diagnostic delays and optimize patient outcomes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548108","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}