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...

Background: Hyperthyrotropinaemia (HTT) describes the biochemical condition of elevated thyroid stimulating hormone (TSH) with normal thyroid hormone concentration. The aetiology of this condition is likely multifactorial but factors such as maternal thyroid disease and presence of trisomy 21 (T21) are thought to play an important role. HTT can be identified during newborn screening for congenital hypothyroidism (CHT), or when thyroid investigations are perfor...