Abstract:

46, XX male syndrome is a rare disorder of sex development, which usually has a 46, XX chromosome karyotype and positive sex-determining region Y gene (SRY), normal external genitalia and male phenotype. Most of them come to hospital due to adult infertility. The patients with SRY negative 46, XX male syndrome are often accompanied by external genital malformations, and most of them seek the treatment because of abnormal sexual development at young age. A case of SRY negative 46, XX male syndrome was reported in this paper. The development of external genitalia and secondary sexual characteristics in this patient were normal male type. The chromosome karyotype was 46, XX, while SRY was negative and AZF region was deleted. The hypergonadotropin hypogonadism and azoospermia were diagnosed. As for the fertility requirement of this patient, artificial insemination by donor was recommended.

Key words: 46, XX testicular disorders of sex development, Genes, sry, Chromosome deletion, Azoospermia, Karyotyping, Sex determination processes, Infertility, male