ESPE Abstracts

Background: Mutations in the imprinted gene MKRN3 have been associated with inherited central precocious puberty (CPP). MKRN3 is a maternal imprinted gene and the disease is exclusively paternally transmitted in an autosomal dominant manner. Although the mechanism is unclear, it has been suggested that MKRN3 inhibits hypothalamic GnRH release, leading to a loss-of-function mutation and CPP. To date, more than 20 MKRN3mutations have b...

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene encoding the glucocorticoid receptor. The phenotypic spectrum is broad but typically includes symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. So far, about 20 different mutations in NR3C1 presenting with the GRS phenotype have been reported.We report a 13-year-old girl that presented wi...

Introduction: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, about 26 mutations have been identified in POU1F1.<...