hrp0089s1.2 | Recent developments in the understanding of Hypothalamo-pituitary disorders | ESPE2018

Stem Cells in the Pituitary: A Role for Regeneration?

Rizzoti Karine

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...

hrp0095p1-348 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Bezen Diğdem , Kutlu Orkide , Mouilleron Stephane , Rizzoti Karine , Dattani Mehul , Guran Tulay , Yeşil Gözde

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...

hrp0092fc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI)

Akin Leyla , Gregory Louise , Buonocore Federica , Group GOSgene , Kurtoglu Selim , Kendirci Mustafa , Burçin Gonen Z. , Lovell-Badge Robin , Rizzoti Karine , Dattani Mehul

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...