hrp0084p2-511 | Pituitary | ESPE2015

Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome

Joustra Sjoerd , Roelfsema Ferdinand , Endert Eric , Ballieux Bart , van Trotsenburg Paul , Fliers Erik , Corssmit Noortje , Bernard Daniel , Oostdijk Wilma , Wit Jan Maarten , Pereira Alberto , Biermasz Nienke

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

hrp0097p2-271 | Late Breaking | ESPE2023

Craniosynostosis in Patients With X-Linked Hypophosphatemia: a monocentric experience

Grandone Anna , Luongo Caterina , Aiello Francesca , Romano Francesca , Miraglia Del Giudice Emanuele , Aliberti Ferdinando

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...