Endocrine Abstracts

Growth is an inherent property of life. Normal somatic growth requires the integrated function of many of the hormonal, metabolic, and other growth factors involved in the hypothalamo-pituitary-growth axis. Discovery of transcription factors responsible for pituitary cell differentiation and organogenesis has had an immediate impact on understanding and diagnosis of pituitary hormone deficiencies. Importantly, combined pituitary hormone deficiencies (CPHD) have been associated...

ACTH insensitivity or familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder first described in 1959. We demonstrated in 1993 that about 25% of affected patients have nonsense or (more commonly) missense mutations in the ACTH receptor (melanocoprtin 2 receptor, MC2R). Functional analysis of these mutations had been especially difficult until our discovery in 2005 that the receptor requires an essential accessory factor – the melanocortin 2 recepto...

The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic–pituitary–gonadal axis. In the last 5 years, several loss-of-function mutations in the G-protein coupled receptor 54 (GPR54) gene have been shown to cause isolated hypogonadotropic hypogonadism. Although these mutations are not a common cause of hypogonadotropic hypogonadism, patients bearing mutations are critical to explore ge...

Puberty is a complex biologic process inducing sexual development and fertility. Puberty is initiated by the secretion of pulsatile gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Severe anomalies in GnRH secretion or action may lead to idiopathic hypogonadotropic hypogonadism (IHH), a disorder where patients failed to go through puberty. While IHH was previously thought to require lifelong treatment, we hypothesized that activation of the hypothalamic&#...