Sex Reversal Syndrome (SRS): A case of SRY-Positive 46,XX Testicular Disorder / Journal of the ASEAN Federation of Endocrine Societies

@#We report a case of an SRY-positive 46,XX Indian male who presented with small testis and phallus, poor beard and mustache development and gynecomastia at the age of 24 years. He was biochemically found to have hypergonadotropic hypogonadism. He had 46,XX karyotype and Quantitative Fluorescence-PCR (QF-PCR) identified the SRY gene on the X chromosome. SRY-positive 46 XX male SRS cases usually present as phenotypically male since birth but develop features of hypogonadism, poor testicular development, and infertility after puberty. Infertility, hypogonadism, external genital development, and psychological distress are the major concerns during the management of the patients. Testosterone therapy for hypogonadism, artificial reproductive technologies for fertility, surgical repair of hypospadias/cryptorchidism/under-virilized genitalia and psychological and genetic counseling are helpful for proper management of the patients.

Relationship of congenital urogenital abnormalities and chromosomal abnormalities: a report of 200cases / 中华全科医师杂志

A total of 200 outpatients with congenital urogenital abnormalities were recruited.Peripheral blood from each patient had mixed lymphocyte culture and chromosome karyotype was analyzed.Among them,22 (11％) cases showed abnormal chromosomal karyotypes.The aberrations included abnormal chromosome number (n =13),abnormal chromosome structure (n =8) and sex reversal syndrome (n =1).Chromosomal aberrations are important causative factors of congenital urogenital abnormalities.