Endocrine Abstracts

Puberty is the process of physical change that occurs between childhood and adulthood, during which adolescents reach sexual maturity and become capable of reproduction. The onset and course of puberty are under the control of the neuroendocrine system. Factors affecting the timing and regulation of the functions of this system may alter the onset and course of puberty. Recent studies have demonstrated a progressive decrease in the age of onset of puberty in children around th...

Aim: The Swyer syndrome belongs to a group of pure gonadal dysgenesis. Karyotype is 46,XY. Aberrations of chromosome Y or SRY gene mutation is present in 15–30% of cases. These patients have high gonadotropin levels and are classified as having hypergonadotropic hypogonadism. The Swyer syndrome in the female requires close followup because of the high risk of neoplastic transformation in the dysgenetic gonads. Herein we report a case of Swyer syndrome with gonadoblastoma ...

Introduction: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterised by a selective lack of subcutaneous fat that is associated with insulin resistance and diabetes. FPL has been reported to be caused by mutations in the peroxisome proliferator activator receptor-γ (PPARG) gene, which encodes a key transcription factor that regulates adipocyte differentiation and insulin sensitivity.Material and methods: The objective of this ...

Objective: Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic complications were reported to be relatively rare in APL, while they were quite common in other types of lipodystrophy syndromes. However, so far, there has been no systematic study on metabolic complications in APL.Methods: We have systematically evaluated 21 APL patients in the Turkish Lipodystrophy Study Gr...