Görüntüleme
25
İndirme
2
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.
Congenital adrenal hyperplasia (KAH) is a hereditary disease characterized by salt loss and virilization, autosomal resessive. The deficiency of 21 hydroxylase caused by mutations in the CYP21A2 gene accounts for 90–95% of patients with CA. Other more rare forms are 3-β-hydroxisteroid dehydrogenase deficiency (3β-HSD), 11-β-hydroxylase deficiency (11β-OHD) (5-8%), 17-α-hydroxylase deficiency (17α-OHD) and STAR defects (congenital lipoid adrenal hyperplasia). In this study, we presented clinical and laboratory data of 64 KH patients monitored in our clinic. Material-methode: Izmir Dr. Behçet Uz Children's Hospital in the Children's Endocrinology Clinic, the clinical, laboratory and genetic characteristics of the 64 KH diagnosed patients are studied retrospectively. Results: Fifty patients (87.5%) were diagnosed with 21-OHD, 4 (6.3%) 17α-OHD, 3 (4.7%) 11β-OHD and one (1.5%) STAR defect. The most frequently applied cause of 21-OHD-defined occurrences was the uncertain external genital structure. The diagnosed occurrences of 21-OHD were diagnosed earlier than other rare occurrences caused by COPD. In 46 of 21-OHD-defined cases, mutations were identified in the CYP21A2 gene; the most common mutations were IVS2, Q318X, I172N and major divisions. 11β-OHD was identified in three cases with macropenis and early pubic swelling (the applicant’s age: 26 months). There were four phenomena identified as 17α-OHD, and in these phenomena two different mutations were identified in the CYP17A1 gene; one of these mutations was not previously identified in literature. The star defect is known, the phenomenon of life 44. On the day, he applied for dehydration and cholestase table. In the genetic analysis, a novel variant was found in the STAR gene that was unprecedented. Result: As a result, our study observed a phenotype-genotype correlation that is compatible with literature in 21-OHD KAH facts. At the same time, our study also found unprecedented novel mutations in the STAR and CYP17A1 genes that caused rare types of KAH. (SETB-2021-06-177)
Alan : Sağlık Bilimleri
Dergi Türü : Ulusal
Makale Detay 
Benzer Makaleler
PDF Görüntüle
Dergi Bilgisi
Eseri Dinleyin
Alıntı Yap
Bu Sayfayı Yazdırın
Paylaş
Mendeley
