ESPE Abstracts

During morphogenesis, embryonic progenitors proliferate, differentiate and establish the shape of the future organs and tissues. In the mature organism, a certain degree of plasticity and potential for regeneration is retained as most organs maintain a population of adult stem cells sharing important similarities with embryonic progenitors; they are characterized by the ability to both self-renew and differentiate into the full range of the specialized cell types corresponding...

Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compar...

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...