Male Pseudohermaphroditism due to 5 alpha Reductase-2 Deficiency- An Uncommon Etiology

Authors

  • MA Mannan Professor, Department of Endocrinology, Dhaka Medical College, Dhaka
  • Muhammad Hafizur Rahman Assistant Professor, Department of Endocrinology, Dhaka Medical College, Dhaka
  • Mirza Azizul Hoque Associate Professor, Department of Endocrinology, Dhaka Medical College, Dhaka

DOI:

https://doi.org/10.3329/jom.v10i2.2834

Keywords:

Male pseudohermaphroditism, 5 alpha reductase-2 deficiency

Abstract

A 15 years adolescent male muslim presented to us with ambiguous genitalia. At birth he was identified as a female baby and since then reared as a female. At the age of 13, his parents surprisingly observed that some of his phenotypic expressions were becoming male type such as deepening of voice, appearance of facial hair, enlargement of phallus, non development of breast and failure to start menstruation. On examination, he had ambiguous genitalia with enlarged phallus with hypospadias, pigmented labioscrotal folds with blind ended vagina, and pubic hair in stage-3. He was diagnosed as a case of pseudovaginal perineoserotal hypospadias. Serum testosterone and LH level were within the normal range. Karyotyping of the patient revealed 46XY. USG of the whole abdomen revealed no mullarian duct derivatives or gonads. Laparoscopic examination showed only one gonad in the left inguinal region. History, physical examination and investigations suggested the diagnosis of male pseudohermaphroditism due to deficiency of 5 alpha reductase-2 enzyme.

Key words: Male pseudohermaphroditism, 5 alpha reductase-2 deficiency.  

doi: 10.3329/jom.v10i2.2834  

J MEDICINE 2009; 10 : 142-145

Downloads

Download data is not yet available.
Abstract
872
PDF
756

Downloads

How to Cite

Mannan, M., Rahman, M. H., & Hoque, M. A. (2009). Male Pseudohermaphroditism due to 5 alpha Reductase-2 Deficiency- An Uncommon Etiology. Journal of Medicine, 10(2), 142–145. https://doi.org/10.3329/jom.v10i2.2834

Issue

Vol. 10 No. 2 (2009)

Section

Case Reports

License

Authors who publish with this journal agree to the following terms:

    1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

    1. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

  1. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).