ESPE Abstracts

Introduction: Neonatal thyrotoxicosis (NT) is rare but potentially life-threatening condition with high mortality risk due to cardiac failure(12-20%). Affected neonates are born to mothers with underlying thyroid pathology. Estimated prevalence of trans-placental transfer of thyroid antibodies occurs 1 in every 70 pregnancies with Graves’ disease. Symptoms in the neonate usually manifest by 10 days of life but this can be as late as day 45. We discuss tw...

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...