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.
Keyphrases
- end stage renal disease
- chronic kidney disease
- replacement therapy
- newly diagnosed
- ejection fraction
- peritoneal dialysis
- copy number
- prognostic factors
- type diabetes
- adipose tissue
- dna methylation
- gene expression
- mass spectrometry
- germ cell
- polycystic ovary syndrome
- young adults
- patient reported outcomes
- insulin resistance
- single molecule
- human immunodeficiency virus
- energy transfer