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

Sreejith, Pongillyathundiyil; Balakrishnan, Sheila; Sankar, Vaikom; Syamala, Remya; Mohan, Reji; Sundaram, Sankar; Govindan, Krishna; Chandramohanan Nair, Kaleeluvilayil

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

Authors

Pongillyathundiyil Sreejith ¹

Sheila Balakrishnan ²

Vaikom Sankar ³

Remya Syamala ⁴

Reji Mohan ²

Sankar Sundaram ⁵

Krishna Govindan ¹

Kaleeluvilayil Chandramohanan Nair ⁶

¹ Multi Disciplinary Research Unit, Government Medical College, Thiruvananthapuram, India

² Department of Reproductive Medicine and Surgery, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, India

³ Department of Pediatrics, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, India

⁴ Child Development Centre, Government Medical College, Thiruvananthapuram, India

⁵ Department of Pathology, Government Medical College, Kottayam, Thiruvananthapuram, India

⁶ Department of Anatomy, Government Medical College, Thiruvananthapuram, India

Abstract

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.

Keywords

46 XX male syndrome

Azoospermia

SRY gene

Y chromosome microdeletion

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