bioelectrical impedance analysis (BIA, seca mBCA 515 device, seca Deutschland, Hamburg, Germany). The patient presented a body fat content of 33.2% with a fat mass index of 8.8 kg/m² (slightly above the normal range of 3.8–8.7 kg/m²). The BIA also showed that
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Fiona Melzer, Corinna Geisler, Dominik M Schulte, and Matthias Laudes
Ellada Sotiridou, Henrike Hoermann, Sommayya Aftab, Antonia Dastamani, Eva Thimm, Louise Doodson, Spyros Batzios, Sebastian Kummer, and Pratik Shah
-appropriate fasting tolerance without any supplemental carbohydrates. His treatment was discontinued after 6 months when he tolerated a 12 h fast, off diazoxide. Case 3 The third patient was male, born in Germany at 36 + 4 weeks of gestation to consanguineous
Tina Kienitz, Jörg Schwander, Ulrich Bogner, Michael Schwabe, Thomas Steinmüller, and Marcus Quinkler
receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency . Endocrine Pathology 2008 19 122 – 127 . ( https://doi.org/10.1007/s12022-008-9034-2 ) 5 German-Mena E Zibari GB Levine SN Adrenal myelolipomas in
Viktoria F Koehler, Patrick Keller, Elisa Waldmann, Nathalie Schwenk, Carolin Kitzberger, Kathrin A Schmohl, Thomas Knösel, Christian Georg Stief, and Christine Spitzweg
Summary
Struma ovarii is a teratoma of the ovaries predominantly composed of thyroid tissue. Hyperthyroidism associated with struma ovarii is rare, occurring in approximately 8% of cases. Due to the rarity of struma ovarii, available data are limited to case reports and small case series.We report on a 61-year-old female patient with known Hashimoto’s thyroiditis on levothyroxine replacement therapy for years with transition to clinical and biochemical hyperthyroidism despite antithyroid medication with carbimazole (10 mg/day), new diagnosis of urothelial carcinoma and an adnexal mass suspicious of ovarian cancer. The patient underwent resection of the adnexal mass and histopathology revealed a mature teratoma predominantly composed of thyroid tissue showing high levels of sodium iodide symporter protein expression. Following struma ovarii resection and disappearance of autonomous production of thyroid hormones, the patient developed hypothyroidism with severely decreased thyroid hormone levels fT4 and fT3 (fT4 0.4 ng/dL, reference interval 0.9–1.7 and fT3 < 1.0 pg/mL, reference interval 2.0–4.4). This has previously been masked by continued thyroid-stimulating hormone suppression due to long-term hyperthyroidism pre-surgery indicating secondary hypothyroidism, in addition to primary hypothyroidism based on the known co-existing chronic lymphocytic thyroiditis of the orthotopic thyroid gland. Levothyroxine administration was started immediately restoring euthyroidism.This case illustrates possible diagnostic pitfalls in a patient with two concurrent causes of abnormal thyroid function.
Learning points:
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Struma ovarii is an ovarian tumor containing either entirely or predominantly thyroid tissue and accounts for approximately 5% of all ovarian teratomas.
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In rare cases, both benign and malignant struma ovarii can secrete thyroid hormones, causing clinical and biochemical features of hyperthyroidism.
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Biochemical features of patients with struma ovarii and hyperthyroidism are similar to those of patients with primary hyperthyroidism. In such cases, thyroid scintigraphy should reveal low or absent radioiodine uptake in the thyroid gland, but the presence of radioiodine uptake in the pelvis in a whole body radioiodine scintigraphy.
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We give advice on possible diagnostic pitfalls in a case with two simultaneous causes of abnormal thyroid function due to the co-existence of struma ovarii.
Nina Dauth, Victoria T Mücke, Marcus M Mücke, Christian M Lange, Martin Welker, Stefan Zeuzem, and Klaus Badenhoop
Summary
Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients.
Learning points
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Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients.
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Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction.
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Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.
Ana Dugic, Michael Kryk, Claudia Mellenthin, Christoph Braig, Lorenzo Catanese, Sandy Petermann, Jürgen Kothmann, and Steffen Mühldorfer
Summary
Drinking fruit juice is an increasingly popular health trend, as it is widely perceived as a source of vitamins and nutrients. However, high fructose load in fruit beverages can have harmful metabolic effects. When consumed in high amounts, fructose is linked with hypertriglyceridemia, fatty liver and insulin resistance. We present an unusual case of a patient with severe asymptomatic hypertriglyceridemia (triglycerides of 9182 mg/dL) and newly diagnosed type 2 diabetes mellitus, who reported a daily intake of 15 L of fruit juice over several weeks before presentation. The patient was referred to our emergency department with blood glucose of 527 mg/dL and glycated hemoglobin (HbA1c) of 17.3%. Interestingly, features of diabetic ketoacidosis or hyperosmolar hyperglycemic state were absent. The patient was overweight with an otherwise unremarkable physical exam. Lipase levels, liver function tests and inflammatory markers were closely monitored and remained unremarkable. The initial therapeutic approach included i.v. volume resuscitation, insulin and heparin. Additionally, plasmapheresis was performed to prevent potentially fatal complications of hypertriglyceridemia. The patient was counseled on balanced nutrition and detrimental effects of fruit beverages. He was discharged home 6 days after admission. At a 2-week follow-up visit, his triglyceride level was 419 mg/dL, total cholesterol was 221 mg/dL and HbA1c was 12.7%. The present case highlights the role of fructose overconsumption as a contributory factor for severe hypertriglyceridemia in a patient with newly diagnosed diabetes. We discuss metabolic effects of uncontrolled fructose ingestion, as well as the interplay of primary and secondary factors, in the pathogenesis of hypertriglyceridemia accompanied by diabetes.
Learning points
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Excessive dietary fructose intake can exacerbate hypertriglyceridemia in patients with underlying type 2 diabetes mellitus (T2DM) and absence of diabetic ketoacidosis or hyperosmolar hyperglycemic state.
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When consumed in large amounts, fructose is considered a highly lipogenic nutrient linked with postprandial hypertriglyceridemia and de novo hepatic lipogenesis (DNL).
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Severe lipemia (triglyceride plasma level > 9000 mg/dL) could be asymptomatic and not necessarily complicated by acute pancreatitis, although lipase levels should be closely monitored.
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Plasmapheresis is an effective adjunct treatment option for rapid lowering of high serum lipids, which is paramount to prevent acute complications of severe hypertriglyceridemia.
Carmina Teresa Fuss, Stephanie Burger-Stritt, Silke Horn, Ann-Cathrin Koschker, Kathrin Frey, Almuth Meyer, and Stefanie Hahner
several years ago. Since 2017, rhPTH 1–84 is also available for patients with treatment-refractory hypoparathyroidism in Germany. Recent trials studied substitution therapy in patients with primary hypoparathyroidism. Under treatment with PTH, serum
Sebastian Hörber, Sarah Hudak, Martin Kächele, Dietrich Overkamp, Andreas Fritsche, Hans-Ulrich Häring, Andreas Peter, and Martin Heni
Forschungsgemeinschaft and the Open Access Publishing Fund of the University of Tübingen. Part of this work was supported by a grant (01Gbib925) from the Federal Ministry of Education and Research (BMBF) to the German Centre for Diabetes Research (DZD e.V.). Author
Kun Zhang, Lukas J Lehner, Damaris Praeger, Gert Baumann, Fabian Knebel, Marcus Quinkler, and Torsten K Roepke
Summary
Neuroendocrine tumours (NETs) represent a broad spectrum of tumours, of which the serotonin-producing carcinoid is the most common and has been shown to cause right ventricular heart failure. However, an association between heart failure and NETs other than carcinoid has not been established so far. In this case report, we describe a 51-year-old patient with a glucagon-producing NET of the pancreas who developed acute heart failure and even cardiogenic shock despite therapy. Heart failure eventually regressed after initialising i.v. treatment with the somatostatin analogue octreotide. Chromogranin A as a tumour marker was shown to be significantly elevated, and it decreased with clinical improvement of the patient. The effects of long-time stimulation of glucagon on the myocardium have not been studied yet; however, sarcoplasmic reticulum calcium leak can be discussed as a possible mechanism for glucagon-induced heart failure.
Learning points
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Glucagonoma can be a cause for heart failure.
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i.v. infusion of octreotide can be successfully used to treat glucagonoma-induced acute heart failure.
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We suggest that cardiac function should be monitored in all NET patients.
Theresa Penger, Andrea Albrecht, Michaela Marx, Daniel Stachel, Markus Metzler, and Helmuth G Dörr
Summary
We report on a boy of Albanian descent with the history of juvenile myelomonocytic leukemia (JMML). JMML was diagnosed at the age of 17 months and treated by hematopoietic stem cell transplantation (HSCT). At the age of 14.3 years, about 12 years after HSCT, he was hospitalized with an adrenal crisis. Hormone findings were consistent with primary adrenal insufficiency. Autoimmune adrenalitis was confirmed by positive autoantibodies against 21-hydroxylase and adrenal tissue. Since autoimmune Hashimoto thyroiditis was already known from the age of 9 years, we assume that both diseases are part of the spectrum of autoimmune polyglandular syndrome (APS) type 2. APS type 2 is a rare endocrine disease characterized by Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.
Learning points:
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Endocrine sequelae after hematopoietic stem cell transplantation (HSCT) are common and can develop over a long period.
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Primary adrenal insufficiency after HSCT is absolutely rare.
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The combination of adrenal autoimmune disease and Hashimoto thyroiditis is consistent with autoimmune polyglandular syndrome type 2.