Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India.

Autor: Sreejith PS; Multi Disciplinary Research Unit, Government Medical College, Thiruvananthapuram, India., Balakrishnan S; Department of Reproductive Medicine and Surgery, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, India., Sankar VH; Department of Pediatrics, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, India., Syamala R; Child Development Centre, Government Medical College, Thiruvananthapuram, India., Mohan R; Department of Reproductive Medicine and Surgery, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, India., Sundaram S; Department of Pathology, Government Medical College, Kottayam, India., Govindan K; Multi Disciplinary Research Unit, Government Medical College, Thiruvananthapuram, India., Chandramohanan Nair KRN; Department of Anatomy, Government Medical College, Thiruvananthapuram, India.
Jazyk: angličtina
Zdroj: Journal of reproduction & infertility [J Reprod Infertil] 2019 Jul-Sep; Vol. 20 (3), pp. 191-194.
Abstrakt: Background: 46 XX male syndrome, a rare case of infertility was first reported by de la Chapelle in 1964. In newborn males, the incidence rate of the syndrome varies from 1/9000 to 1/20000. Here, a case of 46 XX male syndrome is reported with clinical, biochemical and genetic changes of the patient and normal masculine features.
Case Presentation: A 29 year old male with infertility registered at the Sree Avittom Thirunal Hospital of Government Medical College, Thiruvananthapuram for fertility treatment. He was diagnosed with non obstructive azoospermia in repeated semen analysis. Chromosomal analysis on peripheral blood lymphocytes has revealed 46 XX male syndrome and the result was confirmed with Fluorescent In situ Hybridization (FISH). Real time polymerase chain reaction failed to detect genes on azoospermia factor regions, AZFa, AZFb and AZFc of Y chromosome, but detected SRY gene positivity. Masculine features of patient were normal except small sized testis, ejaculatory dysfunction and azoospermia.
Conclusion: Appearance of the external genitalia will be generally normal in 46 XX with SRY positive males and generally difficult to identify before puberty because there will not be any significant clinical indication. The present case report demonstrates that mere physical or clinical examination may not disclose the genetic defects. Therefore, in addition to general examination, it is essential to perform genetic analysis on men with infertility.
Competing Interests: Conflict of Interest There are no conflicts of interest to disclose. This project is financially supported by the Department of Health Research, Government of India through Multi Disciplinary Research Unit at Government Medical College at Thiruvananthapuram.
Databáze: MEDLINE
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