Abstract Search

hrp0084fc1.4 | Adrenal | ESPE2015

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

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

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 heigh...

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hrp0097p1-515 | Growth and Syndromes | ESPE2023

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

Orlandini Eleonora , Montanari Francesca , Severi Giulia , Tamburrino Federica , Schiavariello Concetta , Perri Annamaria , Cesarini Sofia , Soliani Luca , Scarano

Emanuela

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

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ESPE Abstracts

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

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

BiosciAbstracts