ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(2): 218-223 | DOI: 10.4274/jcrpe.2495

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

Erdal Eren1, Tuba Edgünlü2, Emre Asut3, Sevim Karakaş Çelik4
1Harran University Faculty Of Medicine, Department Of Pediatric Endocrinology, Şanlıurfa, Turkey
2Sıtkı Koçman University Faculty Of Health Sciences, Department Of Medical Biology, Muğla, Turkey
3Uludağ University Faculty Of Medicine, Department Of Pediatrics, Bursa, Turkey
4Bülent Ecevit University Faculty Of Medicine, Department Of Medical Genetics, Zonguldak, Turkey

Objective: Deficiency of steroid 5-alpha reductase type 2 (5?RD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5?RD2 deficiency.
Methods: 5?RD2 deficiency was detected in 6 different patients from 3 unrelated families. All patients were reared as girls. Two of the patients presented with primary amenorrhea, one with primary amenorrhea and rejection of female gender, and the others with masses in their inguinal canals. Chromosome and sex-determining region Y (SRY) gene analyses were performed in all patients. Additionally, five exons of the SRD5A2 gene were amplified with polymerase chain reaction in the obtained DNA samples and evaluated.
Results: While 46,XY was identified in 5 patients, 47,XXY was detected in one patient. The SRY gene was positive in all patients. The p.Ala65Pro (c193G>C) mutation and V89L polymorphism were observed in exon 1 of the SRD5A2 gene in all patients.
Conclusion: Identification of this mutation and polymorphism is a significant indicator of presence of 5?RD2 deficiency in Southeastern Turkey, a geographical region where consanguineous marriages are also highly common.

Keywords: 46,XY disorders of sex development,5-alpha-reductase,testosterone,mutation,polymorphism

Erdal Eren, Tuba Edgünlü, Emre Asut, Sevim Karakaş Çelik. Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency. J Clin Res Pediatr Endocrinol. 2016; 8(2): 218-223
Manuscript Language: English
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