46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

Authors

  • Anil Kumar Sah Nepal Mediciti Hospital, Lalitpur Nepal https://orcid.org/0000-0002-9212-3985
  • Bipin Maharjan Nepal Mediciti Hospital, Lalitpur Nepal
  • Mahesh Bahadur Adhikari Nepal Mediciti Hospital, Lalitpur Nepal
  • Suman Baral Nepal Mediciti Hospital, Lalitpur Nepal
  • Mimi Giri Nepal Mediciti Hospital, Lalitpur Nepal

DOI:

https://doi.org/10.3126/jaim.v10i1.37096

Keywords:

Alfa Reductase Deficiency, 17β-Hydroxysteroid Dehydrogenase deficiency, Congenital Adrenal Insufficiency

Abstract

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

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Author Biographies

Anil Kumar Sah, Nepal Mediciti Hospital, Lalitpur Nepal

FCPS Resident Urology, Department of Urology

Bipin Maharjan, Nepal Mediciti Hospital, Lalitpur Nepal

Associate Consultant Urologist, Department of Urology

Mahesh Bahadur Adhikari, Nepal Mediciti Hospital, Lalitpur Nepal

Principal Consultant Urologist and Head, Department of Urology

Suman Baral, Nepal Mediciti Hospital, Lalitpur Nepal

Consultant Physician and Endocrinologist, Department of Internal Medicine

Mimi Giri, Nepal Mediciti Hospital, Lalitpur Nepal

Consultant Physician and Endocrinologist, Department of Internal Medicine

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Published

2021-05-14

How to Cite

Sah, A. K., Maharjan, B., Adhikari, M. B., Baral, S., & Giri, M. (2021). 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report. Journal of Advances in Internal Medicine, 10(1), 45–47. https://doi.org/10.3126/jaim.v10i1.37096

Issue

Section

Case Reports