Endocrine Abstracts

Reproduction is controlled by hypothalamic GnRH acting on the pituitary gonadotrope to regulate LH and FSH. Activin, follistatin, and gonadal steroids modulate the gonadotrope as well. We have created immortalized pituitary gonadotropes and a series of their progenitor cells that represent sequential stages of differentiation. These have allowed the identification of transcription factors responsible for specific developmental transitions such as the initiation of LH and FSH g...

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...

Sex differentiation is the development of the internal and external genitalia following gonad determination. Genital ridge formation is regulated by WT1, SF1 and LHX9 whereas SRY is a major player in testis determination. Quite how SRY functions as a transcription factor is still unknown twelve years after the (i)SRY(/i) gene was cloned. How testis determination is regulated is incomplete, as the cause of sex reversal is unknown in the majority of patients with XY gonadal dysg...

The four parathyroid glands (2 superior and 2 inferior) develop from the third and fourth branchial pouches. The 2 inferior parathyroids develop from the third branchial pouch, which also gives rise to the thymus, whilst the 2 superior parathyroids develop from the fourth branchial pouch. Recent molecular genetic studies have identified some of the genes (eg. GATA3, Gcm2 and Hoxa3) involved in these developmental pathways of the branchial pouches and parathyroids, and these wi...