Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy
Keywords:
Male pseudohermaphroditism, 5-alpha reductase type-2 deficiency, 20-month old boy
Abstract
5-alpha-reductase (5-ARD) type 2 deficiencyis 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.
References
1. Trijaya B. Kelainan genitalia eksterna. Presented at
Continuing Medical Education IDAI JAYA 2003.
2. Ambiguous genitalia, conditions and diagnoses. Avail-
able from: URL: http://www.cincinnati_ childrens.org/
health/info/urinary/diagnose/genitalia.htm
3. Hutchenson J, Snyder HM. Ambiguous genitalia and
intersexuality. Available from: URL: http://www.
emedicine.com/PED/topic1980.htm
4. Hughes IA. Minireview: Sex differentiation. Endocri-
nology 2001;142(8):3281-7.
5. Wilson JD, Griffin JE, Russel DW. Steroids 5a-reduc-
tase 2 deficiency. Endocr rev 1993;14:577-93.
6. Wilson BE. 5-alpha reductase deficiency. Available
from: URL: http://www.emedicine.com/PED/
topic1980.htm
7. Mishra R, Reddy S, Chaturvedi G. 5 alpha reductase
deficiency. Available from: URL: http://bhj.org/jour-
nal/2004_4602_april/html/alpha_239.htm
8. Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma
K, et al. Micropenis and the 5a-reductase-2 (SRD5A2)
gene: Mutation and V89L polymorphism analysis in
81 Japanese patients. J Clin Endocrinol Metab
2003;88(7):3431-6.
9. Anonymous. Micropenis. Available from: URL: http:/
/www.healthsystem.virginia.edu
10. Thomas AW. Congenital adrenal hyperplasia. Avail-
able from: URL: http://www.emedicine.com/ped/
topic48.htm
11. Virginia Department of Health. Congenital adrenal
hyperplasia. Available from: URL: http://www.
vdh.state.va.us/
12. Wilson BE. Androgen insensitivity syndrome. Available
from: URL: http://www.emedicine.com/ped/topic/ais
13. Warne GL. Complete androgen insensitivity syn-
drome. Available from: URL: http://www.medhelp.
org/www/ais
14. AIS Support Group Australia Inc. Androgen insensi-
tivity syndrome 2003. Available from: URL: http://
www.vicnet.au/~aissg
15. Peltoketo H, Luu-The V, Simard J, Adamski J. 17b-
hydroxysteroid dehydrogenase (HSD)/17-ketosteroid
reductase (KSR) family: Nomenclature and main char-
acteristics of the 17HSD/KSR enzymes. J Mol
Endocrinol 1999;23:1-11.
16. Testosteron metabolism. Available from: URL: http://
www.osti.gov/energycitations/product.biblio. jsp?
osti_id=6710274.
17. Charmandari E, Dattani MT, Perry LA, Hindmarsh PC,
Brook CG. Kinetics and effect of percutaneous admin-
istration of dihydrotestosterone in children. Horm res
2001;56:177-81.
Continuing Medical Education IDAI JAYA 2003.
2. Ambiguous genitalia, conditions and diagnoses. Avail-
able from: URL: http://www.cincinnati_ childrens.org/
health/info/urinary/diagnose/genitalia.htm
3. Hutchenson J, Snyder HM. Ambiguous genitalia and
intersexuality. Available from: URL: http://www.
emedicine.com/PED/topic1980.htm
4. Hughes IA. Minireview: Sex differentiation. Endocri-
nology 2001;142(8):3281-7.
5. Wilson JD, Griffin JE, Russel DW. Steroids 5a-reduc-
tase 2 deficiency. Endocr rev 1993;14:577-93.
6. Wilson BE. 5-alpha reductase deficiency. Available
from: URL: http://www.emedicine.com/PED/
topic1980.htm
7. Mishra R, Reddy S, Chaturvedi G. 5 alpha reductase
deficiency. Available from: URL: http://bhj.org/jour-
nal/2004_4602_april/html/alpha_239.htm
8. Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma
K, et al. Micropenis and the 5a-reductase-2 (SRD5A2)
gene: Mutation and V89L polymorphism analysis in
81 Japanese patients. J Clin Endocrinol Metab
2003;88(7):3431-6.
9. Anonymous. Micropenis. Available from: URL: http:/
/www.healthsystem.virginia.edu
10. Thomas AW. Congenital adrenal hyperplasia. Avail-
able from: URL: http://www.emedicine.com/ped/
topic48.htm
11. Virginia Department of Health. Congenital adrenal
hyperplasia. Available from: URL: http://www.
vdh.state.va.us/
12. Wilson BE. Androgen insensitivity syndrome. Available
from: URL: http://www.emedicine.com/ped/topic/ais
13. Warne GL. Complete androgen insensitivity syn-
drome. Available from: URL: http://www.medhelp.
org/www/ais
14. AIS Support Group Australia Inc. Androgen insensi-
tivity syndrome 2003. Available from: URL: http://
www.vicnet.au/~aissg
15. Peltoketo H, Luu-The V, Simard J, Adamski J. 17b-
hydroxysteroid dehydrogenase (HSD)/17-ketosteroid
reductase (KSR) family: Nomenclature and main char-
acteristics of the 17HSD/KSR enzymes. J Mol
Endocrinol 1999;23:1-11.
16. Testosteron metabolism. Available from: URL: http://
www.osti.gov/energycitations/product.biblio. jsp?
osti_id=6710274.
17. Charmandari E, Dattani MT, Perry LA, Hindmarsh PC,
Brook CG. Kinetics and effect of percutaneous admin-
istration of dihydrotestosterone in children. Horm res
2001;56:177-81.
Published
2016-10-18
How to Cite
1.
Andhita I, Suryawan W. Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy. PI [Internet]. 18Oct.2016 [cited 22Nov.2024];46(5):236-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/936
Section
Case Report
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Received 2016-10-16
Accepted 2016-10-16
Published 2016-10-18
Accepted 2016-10-16
Published 2016-10-18
