5-alpha-reductase deficiency: a case report

  • Diana Mettadewi Jong
  • Aman B Pulungan
  • Bambang Tridjaja AAP
  • Jose RL Batubara
Keywords: 5-alpha-reductase, deficiency


The condition of 5-alpha-reductase type 2
deficiency (5-ARD) is an inherited disorder
resulting in the inability to convert
testosterone to dihydrotestosterone
This disorder was previously termed as
familial incomplete male pseudohermaphroditism type
2, pseudovaginal perineoscrotal hypospadias.
Clinical manifestation of 5-ARD is limited to male
genetic. The affected males are usually identified
as female in childhood but undergo striking virilization
at puberty.
While overall incidence for various countries are
not established, increased incidence is reported in the
Dominican Republic, some highland tribes in New
Guinea, Lebanon and Turkey. This was the first
documented case in Cipto Mangunkusumo (CM)

Author Biographies

Diana Mettadewi Jong
Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.
Aman B Pulungan
Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.
Bambang Tridjaja AAP
Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.
Jose RL Batubara
Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.


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How to Cite
Jong D, Pulungan A, AAP B, Batubara J. 5-alpha-reductase deficiency: a case report. PI [Internet]. 10Oct.2016 [cited 20Jun.2024];43(6):234-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/700
Case Report
Received 2016-09-24
Accepted 2016-09-24
Published 2016-10-10