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Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2022 / Cilt: 56 - Sayı: 2

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

Behzat ÖZKAN
Özlem NALBANTOĞLU
Özge KÖPRÜLÜ
Filiz HAZAN
Sezer ACAR
Gülçin ARSLAN
Beyhan ÖZKAYA DÖNMEZ
Semra GÜRSOY
Pages
291–298
Publication Date
2022-10-17
DOI
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⚡ TL;DR(Too Long; Didn't Read)

This study also reported novel homozygous variants in STAR and CYP17A1 genes that lead to rare types of CAH.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact:This study also reported novel homozygous variants in STAR and CYP17A1 genes that lead to rare types of CAH.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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 than the rare groups. Disease-causing variants of CYP21A2 were identified in 46 patients. The most common mutations were IVS2, Q318X, I172N, and large deletions. Three patients with 11β-OHD were presented with enlargement of penis and early pubic hair at the median presenting age of 26 months. 17α-OHD deficiency was detected in 4 cases. Genetic analysis revealed two different homozygous CYP17A1 variants. The patient with STAR defect was presented with dehydration and cholestasis in 44 days of the life. Genetic analysis of patient with STAR deficiency revealed a novel homozygous variant. Conclusion: The current study reported a genotype-phenotype correlation consistent with literature data in CAH cases with 21- OHD. This study also reported novel homozygous variants in STAR and CYP17A1 genes that lead to rare types of CAH.

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Cite This Article

ÖZKAN, B., NALBANTOĞLU, Ö., KÖPRÜLÜ, Ö., HAZAN, F., ACAR, S., ARSLAN, G., DÖNMEZ, B. Ö., GÜRSOY, S. (2022). Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 56 - Sayı: 2, 291–298. https://ajindex.com/articles/594588

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