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 20Apr.2024];46(5):236-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/936
Section
Case Report
Authors who publish with this journal agree to the following terms:
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.
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.
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Received 2016-10-16
Accepted 2016-10-16
Published 2016-10-18
Accepted 2016-10-16
Published 2016-10-18
