Endocrine Abstracts

The past decade has seen significant advances in our understanding of the molecular mechanisms of pituitary development and function. However, relatively few gonadotrope specific factors have been identified to date. Through characterization of patients with endocrine disorders as well as transgenic mice, it has emerged that the nuclear receptor transcription factors SF-1 and DAX-1 play an important role in the regulation of gonadotrope activity. SF-1 (NR5A1) activates multipl...

Transcription factors play an important role in the development and function of the hypothalamic-pituitary adrenal (HPA) axis at multiple levels. Mutations in several of these factors have now been described in patients with primary and secondary forms of congenital adrenal hypoplasia. Secondary adrenal hypoplasia results from defective ACTH release and action. This condition can occur as part of a combined pituitary hormone deficiency due to mutations in the homeobox transcri...

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

It has recently been shown that loss-of-function mutations of the G protein coupled receptor GPR54 lead to isolated hypogonadotropic hypogonadism (IHH) in mice and humans. Such mutations are thought to be rare, even within the clinical IHH population, and only a handful of alleles have been described, making further screening of IHH populations imperative. We examined the genes encoding GPR54 and its putative endogenous ligand, kisspeptin-1, for mutations in a cohort of 30 pat...

Introduction: Kisspeptin is the endogenous ligand for the G-protein coupled receptor-54 (GPR54 or KiSS1R). During human pregnancy, maternal levels of placental kisspeptin dramatically increase 7000-fold. The physiological significance of this is unknown. A potential target could be the fetal adrenal cortex (FAC), which undergoes rapid growth from 10 weeks gestation, predominantly of the inner fetal zone (FZ). The FZ expresses the steroidogenic enzymes needed for conversion of ...

A 17 year old phenotypically female Middle Eastern patient presented with a short history of abdominal pain. Laparotomy and biopsy confirmed extensive mixed germ cell tumour with yolk sac elements. After referral to London, remission was achieved with 6 cycles of Bleomycin, Etoposide and Cisplatinum (alpha feta protein decreasing from 12 714 to 5 milli units per litre). Examination revealed short stature, absent pubertal development and primary amenorrhoea. She had palmar, buc...