Endocrine Abstracts

Introduction: Autoimmune polyglandular syndrome type 2 (APS type 2) is co-occurrence of primary adrenal insufficiency (Addison disease) and autoimmune thyroid disease – most commonly Hashimoto thyroiditis (Schmidt syndrome). If it is associated with type 1 diabetes mellitus it is known as Carpenter syndrome. We present clinical pictures of two 33-year-old patients (born in 1980) diagnosed with APS type 2 manifested as Carpenter syndrome to emphasize different courses of t...

Introduction: The severe course of hyperandrogenism during the menopausal transition requires the exclusion of androgen-secreting tumors.Case report: A 60-year-old postmenopausal woman was referred to the Department of Endocrinology with a 3-year history of progressive development of hyperandrogenism with virilization (severe hirsutism, frontal balding, deepening of voice, increased muscle mass, and secondary polycythemia).Hormonal...

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a multi-glandular autosomal dominant genetic disorder which, most typically, includes medullary carcinoma of the thyroid, pheochromocytoma and primary hyperparathyroidism. The authors present a case study of a young man in whom cardiogenic shock was the first manifestation of pheochromocytoma and MEN2A.Case report: A 30-year-old man without a past history of hypertension or any other chronic m...

Introduction: Neurofibromatosis type 1 (NF1; von Recklinghausen’s disease) is an autosomal disorder with the prevalence 1 in 3,000 births. It is caused by mutation of the tumour-suppressor gene encoding neurofibromin. NF1 may affect various organs and patients are at increased risk of developing many neoplasms.Material and methods: We analysed seven cases of patients with NF1 (four females and three males) aged 19–52 who were treated at Endocri...

Hexose-6-phosphate dehydrogenase is an important factor in setting the redox status of the endo-/sarcoplasmic reticulum (ER/SR) lumen by generating the NADPH:NADP+ ratio for 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) mediated glucocorticoid (GC) activation. H6PDH knockout mice (H6KO) clearly demonstrate the obligate nature of 11β-HSD1 for H6PDH, and display a vacuolating of type IIb fiber myopathy, elevated glycogen storage and type II to type...

The transformation of toxic nodular goitre into autoimmune hyperthyroidism with development of thyrotropin receptor antibodies (TSHRAb) as effect of 131I therapy is rarely investigated.The aim of the study is to present cases of patients with toxic nodular goitre who developed autoimmune hyperthyroidism after initial 131I dose, and results of treatment with second 131I dose or thyrostatics.Four pati...

Introduction: Neoplastic lesions in the retroperitoneum may originate from kidneys, ureters, adrenal glands or peripheral nervous, connective, muscle and adipose tissues. Neuroendocrine tumours are exceptionally located in the retroperitoneum.The case study: A woman aged 51, with a tumour of the left adrenal gland found incidentally during an ultrasound examination of the abdominal cavity, which was performed because of dysuria. A CT confir...

Introduction: Thyroid hemiagenesis (TH) is a rare inborn anomaly occurring if one of the thyroid lobes fails to develop. Due to limited literature data and lack of large-cohort case–control studies, the clinical significance and management with patients in whom TH was diagnosed, are still a matter of debate. The objective of the study was a complex analysis of a large group of patients with TH in comparison to a control group of subjects born with normal, bilobed thyroid ...

Aim: The aim of the study was the evaluation of the TSHRAb level changes and the comparison with thyroid function in patients with Graves’ disease treated with 131I 10 years ago.Material and methods: The study has been conducted in 67 patients (57 women, 10 men) aged 27–72 y (mean 48 years) with Graves’ disease.All patients were treated with 131I due to hyperthyroidism confirmed by fT3, fT4 and ...

Aim: The aim of the study was the evaluation of the relationship between thyroid size and the result of radioactive iodine therapy in patients treated due to Graves’ hyperthyroidism.Material and methods: The study group included 150 subjects (127 M and 23 F), aged from 20 to 78 years (mean 48.33 years) at the moment of 131I therapy.In all patients the thyroid technetium-99m scan and determination of the serum levels...