Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy
5-alpha-reductase (5-ARD) type 2 deficiency is an autosomal sex-linked disorder, resulting in the inability to convert testosterone to the more physiological active dihydrotestosterone (DHT). DHT is the most potent androgen, bound selec- tively to the androgen receptors in genital skin and fibroblas...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Indonesian Pediatric Society Publishing House
2016-10-01
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| Series: | Paediatrica Indonesiana |
| Subjects: | |
| Online Access: | https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/936 |
| Summary: | 5-alpha-reductase (5-ARD) type 2 deficiency
is an autosomal sex-linked disorder, resulting in
the inability to convert testosterone to the more
physiological active dihydrotestosterone (DHT).
DHT is the most potent androgen, bound selec-
tively to the androgen receptors in genital skin and
fibroblasts, making its action necessary for the de-
velopment of normal male genital anatomy. Since
DHT is required for normal masculinizaton of the
external genitalia in utero, genetic males with 5-
ARD are usually born with ambiguous genitalia
(male pseudohermaphroditism). The hallmark
of 5-ARD is elevated ratio of serum testosterone
to DHT. In healthy prepubertal children, the
baseline testosterone-to-DHT ratio is 1:2. This
paper reports a 20-month old patient with male
pseudohermaphroditism due to 5-alpha reductase
type-2 deficiency. |
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| ISSN: | 0030-9311 2338-476X |