الفهرس 
Title : Molecular analysis of 5 alpha reductase gene (SRD5A2) in 46, XY Egyptian patients with disorders of sex
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Abstract
Background: Disorders of sexual development (DSD) are a broad range of conditions that can affect reproductive development and function in humans. The etiology of DSD is multifaceted and can be caused by genetic and environmental factors. Genetic Variations of SRD5A2 are one of the common causes of 46, XY DSD. The identification of gene variants by genetic testing is critical for appropriate management and to guide genetic counseling. Aim of the work: This study aimed to identify the presence of variants in SRDA2 gene in a 46, XY karyotype group of Egyptian children presenting with various degrees of under-virilization and to determine the association of gene variants with high post HCG (T/DHT) ratio. Subject and Methods: DNA sequencing of the exon 1 SRD5A2 was done in 30 patients and 25 controls. Further exons of the same gene were sequenced when there was enough volume of remaining DNA. Results: Sequencing of exon 1 of SRD5A2 yielded the presence of four different variants. rs1057517828 was found in one patient (3.3%) in a homozygous state; rs9282858 was found in another patient (3.3%) in a compound heterozygous state; rs523349 was detected in 28 cases with 23 of them in homozygous state and 5 in heterozygous state and it was also found in 22 controls with 15 of them in homozygous state and 7 in heterozygous state; rs522638 was detected in 24 cases with 19 of them in homozygous state and 5 in heterozygous state and it was also found in 20 controls with 14 of them in homozygous state and 6 in heterozygous state. Sequencing of the other exons yielded the presence of no variants in both exon 2 and exon 3; in exon 4 one variant was detected rs767564684 in one patient; and in exon 5 one variant rs121434244 was detected in 2 patients both in compound homozygous state