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

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

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Journal: Journal of Reproduction & Infertility Year:2019 | Volume:20 | Issue:3 Page(s): 191-194

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Title

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

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Keywords

46 XX male syndrome

Azoospermia

SRY gene

Y chromosome microdeletion

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.

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APA: Copy

Sasidharan Sreejith, Pongillyathundiyil, Balakrishnan, Sheila, Hariharan Sankar, Vaikom, Syamala, Remya, Mohan, Reji, Sundaram, Sankar, Govindan, Krishna, & Chandramohanan Nair, Kaleeluvilayil Raghavan Nair. (2019). Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India. JOURNAL OF REPRODUCTION AND INFERTILITY, 20(3), 191-194. SID. https://sid.ir/paper/725252/en

Vancouver: Copy

Sasidharan Sreejith Pongillyathundiyil, Balakrishnan Sheila, Hariharan Sankar Vaikom, Syamala Remya, Mohan Reji, Sundaram Sankar, Govindan Krishna, Chandramohanan Nair Kaleeluvilayil Raghavan Nair. Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India. JOURNAL OF REPRODUCTION AND INFERTILITY[Internet]. 2019;20(3):191-194. Available from: https://sid.ir/paper/725252/en

IEEE: Copy

Pongillyathundiyil Sasidharan Sreejith, Sheila Balakrishnan, Vaikom Hariharan Sankar, Remya Syamala, Reji Mohan, Sankar Sundaram, Krishna Govindan, and Kaleeluvilayil Raghavan Nair Chandramohanan Nair, “Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India,” JOURNAL OF REPRODUCTION AND INFERTILITY, vol. 20, no. 3, pp. 191–194, 2019, [Online]. Available: https://sid.ir/paper/725252/en

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