Endocrine Abstracts

The human pubertal development is a very complex biological process that can be influenced by multiple factors including the genetic ones. A growing list of genes has been implicated in the pathogenesis of the congenital isolated hypogonadotropin hypogonadism (IHH) pointing to the complexity of the genetic basis of this condition. These genes encode peptides, which are involved in the development and migration of GnRH neurons or in regulation of synthesis, secretion and action...

Berenice B Mendonca, University of Sao Paulo, Brazil AbstractBerenice B Mendonca received her M.D in 1973 from Faculdade de Medicina do Triangulo Mineiro, Brazil. In 1984, Prof Mendonca completed her research fellowship in Endocrinology at the University of Sao Paulo School of Medicine, where she developed the whole of her scientific achievements.During the course of her career, Prof Mendonca ha...

The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...

Introduction: Adrenocortical carcinoma (ACC) is a rare and potentially fatal disease in childhood. Complete resection of the tumor and metastasis can improve survival. Case: A 2.6 year-old boy presented isosexual pseudo-precocious puberty at 2.1 years. CT revealed a single nodule in the left adrenal (2 cm) which was resected by adrenalectomy. Histology revealed an adrenocortical tumor (2 cm, 3.0 g, Weiss score 4), ENSAT stage I. Partial regression of the puberty features and n...