Endocrine Abstracts

Introduction: Composite pheochromocytoma is a rare tumor composed histologically of pheochromocytoma and other neurogenic tumor components such as neuroblastoma, ganglioneuroblastoma, ganglioneuroma, peripheral nerve sheath tumor, or other types of neuroendocrine carcinoma. The frequency of composite adrenal tumors reportedly ranges from <3% of all adrenal gland neoplasms to 1–9% of pheochromocytomas. The clinicopathological diagnosis of composite pheochromocytoma is...

Introduction: ACTH-secreting pituitary adenomas occasionally present as aggressive pituitary tumors (APT), with invasion of surrounding structures, rapid growth, resistance to conventional therapies and multiple recurrences. In rare cases they can progress to pituitary carcinomas (PC) in several years, diagnosis being made upon the documentation of systemic or central nervous system (CNS) metastatic spread. Among pituitary carcinomas, the most common malignant subtypes are lac...

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

Introduction: Gitelman syndrome(GS) is a salt-wasting tubulopathy characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and hyperreninemic hyperaldosteronism. It is caused by the mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron (SLC12A3 and TRMP6 gene). GS is a rare autosomal recessive disease with a prevalence of only 25 cases per one millio...

We are presenting a 23-year-old girl with a medical history of juvenile rheumatoid polyarthritis treated with methotrexate, that first addressed to the Endocrinology Department in may 2022 for primary amenorrhoea with poorly developed secondary sexual characters: height 160 cm, weight 48 kg, BMI 18.35 kg/m2, Tanner stages P1, B3. She was treated with oral contraceptives by the gynaecologist in the past without a hormonal assessment. The lab work revealed hypogonadotropic hypog...

Introduction: Anaplastic thyroid carcinoma are highly aggressive solid tumors, with a median survival of less than 6 months after diagnosis. They typically occur in patients who are 65 years of age or older. On the other hand, papillary thyroid carcinoma and follicular thyroid carcinoma are generally indolent, with very few progressive cases.Case report: A 64-year-old patient with no significant pathological history, known with goiter for about 40 years ...

Introduction: Solitary fibrous tumor (SFT) is a sporadic tumor, commonly found in the pleural cavity. It is like a large well-circumscribed mass, arising from mesenchymal tissue, with spindle cells proliferation, arranged in various patterns. SFT of the thyroid is exceptionally rare, with only about 28 cases being reported in the international literaterature.A 34-year-old woman presented in the Department of Endocrinology with the diagnosis of a multinod...

Brown tumors (BT) consist of focal bone lesions, caused by increased osteoclastic activity and fibroblastic proliferation. They appear in chronic kidney disease (CKD) as a result of renal osteodystrophy with high bone turnover, due to secondary hyperparathyroidism. BT are composed of mononuclear stromal cells mixed with multinucleated giant cells and hemosiderin deposits, which give the characteristic brown colour. We present the case of a 13-year-old girl, with end-stage CKD ...

Introduction: The treatment with growth hormone (GH) plays an essential role in the Turner syndrome (TS) management. This study evaluated its efficacy in improving adult height (AH) and metabolic parameters.Material and methods: We retrospectively analysed auxological, biochemical, genetic and pharmacological parameters of 56 girls with confirmed TS. They were categorised according to their karyotype as X monosomy (62%), isochromosome (17%), X mosaicism ...

Introduction: Lipodystrophic syndromes are rare and heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue. They can be classified according to the extent of fat loss in generalized or partial subtypes and genetic or acquired based on the pathogenic mechanisms.Case report: A 37-year-old man was referred to our department with a history of nonalcoholic steatohepatitis associated with high levels of triglycerides (720...