ESPE Abstracts

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

We present the case of a 15-year-old girl who presented with primary amenorrhoea. On examination she had absent pubertal development (Tanner Stage B1), with a normal-appearing external vagina and vaginal opening. Investigations demonstrated elevated gonadotropins, concerning for primary gonadal failure. Pelvic ultrasound and MRI demonstrated the presence of a rudimentary uterus and the absence of visible gonads. Karyotype confirmed 46 XY. Trio exome sequencing identified a mis...

Recently, pathogenic biallelic variants in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE1), have been described in 15 individuals from 12 families, including members of 3 Irish families. These loss-of-function mutations cause POLε deficiency, thus impairing DNA replication. All reported cases share the same heterozygous intronic variant (c.1686þ32C>G) as part of a common haplotype, in addition to a different loss-of-function variant in the ot...