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Tzy Harn Chua Department of Endocrinology, Changi General Hospital, Singapore

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Wann Jia Loh Department of Endocrinology, Changi General Hospital, Singapore

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Summary

Severe hyponatremia and osmotic demyelination syndrome (ODS) are opposite ends of a spectrum of emergency disorders related to sodium concentrations. Management of severe hyponatremia is challenging because of the difficulty in balancing the risk of overcorrection leading to ODS as well as under-correction causing cerebral oedema, particularly in a patient with chronic hypocortisolism and hypothyroidism. We report a case of a patient with Noonan syndrome and untreated anterior hypopituitarism who presented with symptomatic hyponatremia and developed transient ODS.

Learning points:

  • Patients with severe anterior hypopituitarism with severe hyponatremia are susceptible to the rapid rise of sodium level with a small amount of fluid and hydrocortisone.

  • These patients with chronic anterior hypopituitarism are at high risk of developing ODS and therefore, care should be taken to avoid a rise of more than 4–6 mmol/L per day.

  • Early recognition and rescue desmopressin and i.v. dextrose 5% fluids to reduce serum sodium concentration may be helpful in treating acute ODS.

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Mike Lin Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia

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Venessa Tsang Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Janice Brewer Department of Anatomical Pathology, Royal North Shore Hospital, New South Wales, Australia

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Roderick Clifton-Bligh Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Matti L Gild Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Summary

Lymphocytic hypophysitis is a rare neuroendocrine disease characterised by an autoimmune inflammatory disorder of the pituitary gland. We report a 50-year-old woman who presented with headaches and bilateral sixth cranial nerve palsies. MRI of the pituitary revealed extensive fibrosis involving the sellar and extending into both cavernous sinuses causing bilateral occlusion of the internal carotid arteries (ICA). Transphenoidal biopsy confirmed the diagnosis of infiltrative fibrotic lymphocytic hypophysitis. Symptoms resolved with high dose of oral steroids but relapsed on tapering, requiring several treatments of i.v. pulse steroids over 8 months. Rituximab combined with mycophenolate mofetil was required to achieve long-term symptom relief. Serial MRI pituitary imaging showed stabilisation of her disease without reduction in sellar mass or regression of ICA occlusion. The patient’s brain remained perfused solely by her posterior circulation. This case demonstrates an unusual presentation of a rare disease and highlights a successful steroid-sparing regimen in a refractory setting.

Learning points:

  • Lymphocytic hypophysitis is a rare inflammatory disorder of the pituitary gland. In exceptional cases, there is infiltration of the cavernous sinus with subsequent occlusion of the internal carotid arteries.

  • First-line treatment of lymphocytic hypophysitis is high-dose glucocorticoids. Relapse after tapering or discontinuation is common and its use is limited by long-term adverse effects.

  • There is a paucity of data for treatment of refractory lymphocytic hypophysitis. Goals of treatment should include improvement in symptoms, correction of hormonal insufficiencies, reduction in lesion size and prevention of recurrence.

  • Steroid-sparing immunosuppressive drugs such as rituximab and mycophenolate mofetil have been successful in case reports. This therapeutic combination represents a viable alternative treatment for refractory disease.

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Rachel Wurth Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Crystal Kamilaris Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Naris Nilubol Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Samira M Sadowski Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Annabel Berthon Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Martha M Quezado Laboratory of Pathology Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Fabio R Faucz Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Constantine A Stratakis Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Fady Hannah-Shmouni Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Summary

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS). This condition is characterized by glucocorticoid and/or mineralocorticoid excess, and is commonly regulated by aberrant G-protein coupled receptor expression may be subclinical, allowing the disease to progress for years undetected. Inhibin A is a glycoprotein hormone and tumor marker produced by certain endocrine glands including the adrenal cortex, which has not been previously investigated as a potential tumor marker for PBMAH. In the present report, serum inhibin A levels were evaluated in three patients with PBMAH before and after adrenalectomy. In all cases, serum inhibin A was elevated preoperatively and subsequently fell within the normal range after adrenalectomy. Additionally, adrenal tissues stained positive for inhibin A. We conclude that serum inhibin A levels may be a potential tumor marker for PBMAH.

Learning points:

  • PBMAH is a rare cause of CS.

  • PBMAH may have an insidious presentation, allowing the disease to progress for years prior to diagnosis.

  • Inhibin A is a heterodimeric glycoprotein hormone expressed in the gonads and adrenal cortex.

  • Inhibin A serum concentrations are elevated in some patients with PBMAH, suggesting the potential use of this hormone as a tumor marker.

  • Further exploration of serum inhibin A concentration, as it relates to PBMAH disease progression, is warranted to determine if this hormone could serve as an early detection marker and/or predictor of successful surgical treatment.

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Baris Akinci Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA
Division of Endocrinology and Metabolism, Dokuz Eylul University, Izmir, Turkey

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Rasimcan Meral Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Diana Rus Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Rita Hench Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Adam H Neidert Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Frank DiPaola Division of Pediatric Gastroenterology, University of Michigan, Ann Arbor, Michigan, USA

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Maria Westerhoff Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA

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Simeon I Taylor Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA

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Elif A Oral Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Summary

A patient with atypical partial lipodystrophy who had a transient initial response to metreleptin experienced acute worsening of her metabolic state when neutralizing antibodies against metreleptin appeared. Because her metabolic status continued to deteriorate, a therapeutic trial with melanocortin-4 receptor agonist setmelanotide, that is believed to function downstream from leptin receptor in the leptin signaling system, was undertaken in an effort to improve her metabolic status for the first time in a patient with lipodystrophy. To achieve this, a compassionate use (investigational new drug application; IND) was initiated (NCT03262610). Glucose control, body fat by dual-energy X-ray absorptiometry and MRI, and liver fat by proton density fat fraction were monitored. Daily hunger scores were assessed by patient filled questionnaires. Although there was a slight decrease in hunger scales and visceral fat, stimulating melanocortin-4 receptor by setmelanotide did not result in any other metabolic benefit such as improvement of hypertriglyceridemia or diabetes control as desired. Targeting melanocortin-4 receptor to regulate energy metabolism in this setting was not sufficient to obtain a significant metabolic benefit. However, complex features of our case make it difficult to generalize these observations to all cases of lipodystrophy. It is still possible that melanocortin-4 receptor agonistic action may offer some therapeutic benefits in leptin-deficient patients.

Learning points:

  • A patient with atypical lipodystrophy with an initial benefit with metreleptin therapy developed neutralizing antibodies to metreleptin (Nab-leptin), which led to substantial worsening in metabolic control. The neutralizing activity in her serum persisted for longer than 3 years.

  • Whether the worsening in her metabolic state was truly caused by the development of Nab-leptin cannot be fully ascertained, but there was a temporal relationship. The experience noted in our patient at least raises the possibility for concern for substantial metabolic worsening upon emergence and persistence of Nab-leptin. Further studies of cases where Nab-leptin is detected and better assay systems to detect and characterize Nab-leptin are needed.

  • The use of setmelanotide, a selective MC4R agonist targeting specific neurons downstream from the leptin receptor activation, was not effective in restoring metabolic control in this complex patient with presumed diminished leptin action due to Nab-leptin.

  • Although stimulating the MC4R pathway was not sufficient to obtain a significant metabolic benefit in lowering triglycerides and helping with her insulin resistance as was noted with metreleptin earlier, there was a mild reduction in reported food intake and appetite.

  • Complex features of our case make it difficult to generalize our observation to all leptin-deficient patients. It is possible that some leptin-deficient patients (especially those who need primarily control of food intake) may still theoretically benefit from MC4R agonistic action, and further studies in carefully selected patients may help to tease out the differential pathways of metabolic regulation by the complex network of leptin signaling system.

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Aishah Ekhzaimy Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Afshan Masood Obesity Research Center, and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Seham Alzahrani Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Waleed Al-Ghamdi Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Daad Alotaibi Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Muhammad Mujammami Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Summary

Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. After an extensive literature search and to the best of our knowledge this is the first reported case in literature, we report the case of a 36-year-old male with a history of CDI, who presented to the hospital’s endocrine outpatient clinic for evaluation of a 3-week history of progressive facial rash accompanied by weakness and aching of the muscles.

Learning points:

  • Accurate biochemical diagnosis should always be followed by etiological investigation.

  • This clinical entity usually constitutes a therapeutic challenge, often requiring a multidisciplinary approach for optimal outcome.

  • Dermatomyositis is an important differential diagnosis in patients presenting with proximal muscle weakness.

  • Associated autoimmune conditions should be considered while evaluating patients with dermatomyositis.

  • Dermatomyositis can relapse at any stage, even following a very long period of remission.

  • Maintenance immunosuppressive therapy should be carefully considered in these patients.

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Yasufumi Seki Departments of Endocrinology and Hypertension, Tokyo, Japan

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Satoshi Morimoto Departments of Endocrinology and Hypertension, Tokyo, Japan

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Naohiro Yoshida Departments of Endocrinology and Hypertension, Tokyo, Japan

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Kanako Bokuda Departments of Endocrinology and Hypertension, Tokyo, Japan

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Nobukazu Sasaki Departments of Endocrinology and Hypertension, Tokyo, Japan

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Midori Yatabe Departments of Endocrinology and Hypertension, Tokyo, Japan

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Junichi Yatabe Departments of Endocrinology and Hypertension, Tokyo, Japan

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Daisuke Watanabe Departments of Endocrinology and Hypertension, Tokyo, Japan

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Satoru Morita Departments of Diagnostic Imaging and Nuclear Medicine, Tokyo, Japan

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Keisuke Hata Departments of Urology, Kidney Center, Tokyo, Japan

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Tomoko Yamamoto Departments of Surgical Pathology, Tokyo Women’s Medical University, Tokyo, Japan

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Yoji Nagashima Departments of Surgical Pathology, Tokyo Women’s Medical University, Tokyo, Japan

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Atsuhiro Ichihara Departments of Endocrinology and Hypertension, Tokyo, Japan

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Summary

Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of luteinizing hormone (LH) receptor in patients with PA has been reported; however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a 2-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered.

Learning points:

  • The pathogenesis of primary aldosteronism is still unclear.

  • Expression of luteinizing hormone receptor has been reported in aldosterone-producing adenoma.

  • Serum luteinizing hormone, which is increased in patients with Klinefelter’s syndrome, might contribute to the development of primary aldosteronism.

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Yotsapon Thewjitcharoen Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

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Veekij Veerasomboonsin Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

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Soontaree Nakasatien Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

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Sirinate Krittiyawong Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

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Thep Himathongkam Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

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Summary

Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen.

Learning points:

  • An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications.

  • Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis.

  • The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months.

  • A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.