ESPE Abstracts

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

The high rate of false-positive (FP) results in congenital adrenal hyperplasia newborn screening (CAH-NBS) worldwide challenges NBS-programs and reinforces the need of high specificity subsequent tests. Few studies assessed the efficacy of different serum steroids by the available methodologies. Serum 21-deoxycortisol-21DF demonstrated a high diagnostic accuracy in CAH children/adults but was not evaluated in the NBS context. Objective: to evaluate the efficacy of confirmatory...

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...