Endocrine Abstracts

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to the action of ACTH leading to glucocorticoid deficiency with preserved mineralocorticoid and gonadal function. In 1993 we identified mutations in the ACTH receptor (melanocortin 2 receptor; MC2R), although these only explained around 25% of cases. More recently a traditional homozygosity mapping approach identified mutations in a novel gene which we named melan...

In humans, the adrenal gland develops from the intermediate mesoderm at around 4 weeks gestation and undergoes a series of distinct morphological and functional changes throughout pre- and post-natal life. Two key transcriptional regulators of adrenal development are the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1, Ad4BP). Mutations or deletions of DAX-1 result in X-linked adrenal hypoplasia congenita (AHC). Boys with this condition ty...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased...