Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is characterised by impaired gluco and mineralocorticoid and excessive adrenal androgen secretion from the adrenal cortex. More than 90% of cases of CAH are caused by defects in the steroid 21-hydroxylase (CYP21) gene. We describe the association between salt-losing 21-hydroxylase deficiency and growth hormone deficiency.Patients and Methods: We reviewed 4 patients with salt-losing CAH (CYP21), who pres...

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...

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...