Endocrine Abstracts

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...

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: Bilateral adrenal incidentalomas represent a challenge both in diagnosis and therapeutic approaches. While initial testing is similar to unilateral adrenal incidentalomas, additional investigations should be made considering the differences between the distribution of etiologies.Case report: We report the case of a 67 years old hypertensive female, presenting with backpain; an initial abdominal ultrasound described left adrenal mass and a l...

IntroductionMayer-Rokitansky-Küster-Hauser (MRKH) type 2 or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies) syndrome is a congenital disease with an incidence of 1 in 4000–5000 female live births, with unknown etiology. Several chromosomal abnormalities were associated with the disease, with a normal 46XX karyotype and familial members to share the same associated anomalies as sporadic cases h...