Volume 26, Issue 126, August 2022

Differences of sex development (DSD) in 46XY, 5-alpha-reductase-2 deficiency patient for vaginoplasty: A case report

Dhruva Halani¹, Arpita Jaiswal^2♦, Deepika Dewani³, Dhaval Patel⁴

¹Post Graduate Resident, Department of Obstetrics and Gynaecology, Jawaharlal Nehru medical college, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
²Professor, Department of Obstetrics and Gynaecology, Jawaharlal Nehru medical college, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
³Assistant Professor, Department of Obstetrics and Gynaecology, Jawaharlal Nehru medical college, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
⁴Post Graduate Resident, Department of Surgery, Jawaharlal Nehru medical college, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India

^♦Corresponding author
Professor, Department of Obstetrics and Gynaecology, Jawaharlal Nehru medical college, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India

ABSTRACT

Male pseudohermaphroditism, a syndrome defined by inadequate differentiation of male genitalia in 46, XY patients, is caused by steroid 5-alpha-reductase 2 deficiencies, an uncommon ailment. Here, we discuss the case of a 13-year-old from Wardha, Maharashtra, who was identified as female by relatives and who displayed primary amenorrhea, ambiguous genitalia, and absence of breast development. Every serum hormone profile showed testosterone levels of 460ng/dl (normal), dihydrotestosterone levels of 16ng/dl (decreased), and an elevated T/DHT ratio. Chromosome analysis identified a 46, XY karyotype. A Phallus reduction and Mcindode vaginoplasty were carried out, along with clitoroplasty, orchiopexy, and gonadoplasty, and estrogen-based hormone replacement therapy was initiated. In conclusion, babies with unclear genitalia or adolescents or young adults with the recognizable phenotypic and blood hormone profiles may have 5-alpha-reductase 2 deficiencies. However, the psychological aspects put more of an emphasis on the patient's quality of life as it relates to their health, as well as their family's adjustment and their psycho-social and psycho-sexual development.

Keywords: DSD, 46XY, ambiguous genitalia, multifactorial approach, gender assignment

Medical Science, 2022, 26, ms346e2380

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DOI: https://doi.org/10.54905/disssi/v26i126/ms346e2380

Published: 27 August 2022