Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing variable masculinization degrees of external genitalia in babies with a 46, XX karyotype. Cases presentation These five case reports highlight the management of Syrian females aged between 0 and 32 years with congenital adrenal hyperplasia. Two of the patients have been raised as males, while two had reconstructive surgery and one had hormonal therapy. Becoming mother was achieved by two patients Conclusion The integrated treatment of females with classical congenital adrenal hyperplasia CAH, which includes appropriate surgical procedures and controlled hormonal therapy, gives these females the opportunity to live as they are, and perhaps as mothers in the future.

Male infertility is a prevalent disorder affecting approximately 7% of the male population, at least 2,000 genes are involved in spermatogenesis, availability of genetic investigations is a challenge in developing countries, GPRC6A, G-protein coupled receptor, activated by Osteocalcin (OCN)an osteoblast secreted hormone, is a master regulator of a complex metabolic and reproductive networks. rs2247911 in GPRC6A plays a role in male fertility and glucose metabolism, Although DNA sequencing is regarded the golden standard tool for genotyping, it is less affordable in developing world laboratories, polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) assay is an inexpensive and highly valuable tool for genotyping, this study aimed to develop (PCR-RFLP) method for assessment of rs2247911 polymorphism.10% of male subjects genotyped previously by sequencing were genotyped the by PCR-RFLP method based on Geneious® bioinformatics tool suggested restriction enzyme (ScrFI), PCR-RFLP 100% correctly identified genotypes. we present for the first time an accurate and inexpensive method for genotyping rs2247911.

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