Endocrine Abstracts

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...

Abstract: Congenital hypogonadotropic hypogonadism (CHH) is characterized by isolated GnRH deficiency in the absence of central anatomical causes. Classically considered to be a permanent disorder, CHH reversal has been reported in up to 15% of cases. However, reversal may not always be life-long, as hypogonadism relapse can occur in a subset of patients. Criteria for reversal normalization of circulating sex steroids, and spontaneous fertility. We report a 26-yrs-old man, who...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Mkrn3, the maternally imprinted gene encoding the makorin RING-finger protein-3, has recently emerged as putative pubertal repressor, as evidenced by central precocity caused by MKRN3 mutations in humans; yet, the molecular underpinnings of this key regulatory action remain largely unexplored. We report herein that the microRNA, miR-30, with three binding sites in a highly conserved region of its 3’-untranslated region (UTR), operates as repressor of Mkrn3 to control pube...