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Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1 by Ozge Koprulu; Behzat Ozkan; Sezer Acar; Ozlem Nalbantoglu; Beyhan Ozkaya Donmez; Gulcin Arslan; Filiz Hazan; Semra Gursoy is a scholarly article available to read on EtoBox.

What is Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1 about?

## Objectives Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90–95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-β-hydroxysteroid dehydrogenase deficiency, 11-β-hydroxylase deficiency (11β-OHD) (%5-8), 17-α-hydroxylase deficiency (17α-OHD), and steroidogenic acute regulatory protein (__STAR__) defects (congenital lipoid adrenal hyperplasia) with mutations in __HSD3B2, CYP11B1, CYP17A1__, and __STAR__, respectively. Objectives: Herein, we aimed to present the clinical and genetic features of 64 patients with various types of CAH. ## Methods Sixty-four patients with CAH, monitored in the Izmir Dr. Behcet Uz Children Hospital Division of Pediatric Endocrinology, were retrospectively analyzed for the clinical, laboratory, and genetic data. ## Results Fifty-six patients (87.5%) had 21-OHD and four patients (6.3%) had 17α-OHD, three patients (4.7%) had 11β-OHD, and one patient (1.5%) had __STAR__ defect. The most common presenting features in 21-OHD were ambiguous genitalia. Patients with 21-OHD were diagnosed earlier t

Author

Ozge Koprulu; Behzat Ozkan; Sezer Acar; Ozlem Nalbantoglu; Beyhan Ozkaya Donmez; Gulcin Arslan; Filiz Hazan; Semra Gursoy

Published

2022