ESPE Abstracts (2015) 84 FC1.4

Congenital Adrenal Hyperplasia due to 21 OH Deficiency: Final Height Before and After Newborn Screening Era in Emilia-Romagna Region, Italy

Federico Baronio, Soara Menabò, Ilaria Bettocchi, Lilia Baldazzi, Federica Tamburrino, Francesca Montanari, Alessandra Cassio, Laura Mazzanti & Antonio Balsamo


Pediatric Endocrinology Program, Pediatric Unit, S.Orsola-Malpighi Hospital University of Bologna, Bologna, Italy


Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.

Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.

Method: We evaluated final height, genotype and treatment of 103 21OHD-CAH pts, diagnosed and treated at our Pediatric Endocrinology Unit in the last 40 years, before (57 pts, 21 M-group A) and after (46 pts, 20 M-group B) NBS era. Our pts were subdivided in three sub-groups upon severity of genotype (salt wasting-SW, simple virilizing-SV, non classical-NC). Other than classical treatments (gluco and mineralocorticoids, NaCl salts), 14 cases underwent GnRH analogue (9 pts), GnRH analog + growth hormone (GH) (3 pts), GH (2 pts) for severely reduced projected adult stature.

Results: FH of males of group B with severe forms (SW+SV) is higher than that of pts with severe forms of group A. FH has negative correlation (P<0.001) with age at diagnosis in severe forms (61 cases), in particular in SV males of group B (P<0.01). These pts show better final height (P<0.005) than SV males of group A. Glucocorticoid dose is lower in pts of group B than that of group A, with statistical significance in females only. Pts with NC forms, both males and females, diagnosed before and after NBS show similar final height. The three cases treated with GnRH+GH reached FH above mid-parental target height.

Conclusion: In our study the introduction of NBS significantly improved FH only in males with severe forms. Further studies are needed to increase the number of pts with final height to extensively evaluate our results on a larger group of cases.