hrp0092rfc5.5 | Thyroid | ESPE2019

A Novel Mutation in the Thyroglobulin Gene Leading to Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Stern Eve , Kassif Eran , Schoenmakers Nadia , Gruber Noah , Pinhas-Hamiel Orit , Yeshayahu Yonatan

Background: Congenital hypothyroidism is a common condition with reported incidence between 1/2000 – 1/4000 live births. In approximately 85% of cases this is sporadic due to a structural abnormality of the thyroid gland. Approximately 15% of cases are hereditary and secondary to thyroid dyshormonogenesis. Most of these are due to mutations in one of the genes involved in iodine transport or organification, mutations in the thyroglobulin gene or d...

hrp0095fc6.2 | Sex Development and Gonads | ESPE2022

Predictive value of ovarian reserve parameters for follicle detection in ovarian tissue cryopreservation

Gruber Noah , Zajicek Michal , Volodarsky-Perel Alexander , Shai Daniel , Dick-Necula Daniela , Raanani Hila , Karplus Gideon , Kassif Eran , Weisz Boaz , Meirow Dror

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...