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hrp0092p1-306 | Adrenals and HPA Axis (2) | ESPE2019

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Cilsaat Gizem , Toksoy Guven , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Uyguner Oya , Basaran Seher , Altinoglu Umut , Darendeliler Feyza

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

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hrp0092p1-159 | Adrenals and HPA Axis (1) | ESPE2019

Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

Abali Zehra Yavas , Yildiz Melek , Bas Firdevs , Onal Hasan , Abali Saygin , Cilsaat Gizem , Uyguner Zehra Oya , Turan Serap , Darendeliler Feyza , Bereket Abdullah , Guran Tulay

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

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ESPE Abstracts

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

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