5-alpha-reductase deficiency: a case report
Keywords:
5-alpha-reductase, deficiency
Abstract
The condition of 5-alpha-reductase type 2deficiency (5-ARD) is an inherited disorder
resulting in the inability to convert
testosterone to dihydrotestosterone
(DHT).
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)
Hospital.
References
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sections]. Available from: URL: http://
www.eMedicine.com/PED/topic 1980.html
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p. 1744-66.
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penis, hypospadias, and cryptorchidism. In: Lifshitz F,
editor. A clinical guide. Pediatric endocrinology. 3 rd ed.
New York: Marcel Dekker; 1996. p. 281-303.
5. Cai LQ, Zhu YS, Katz MD, Herrera C, Baez J, DeFillo-
Ricart M, et al. 5α-reductase-2 gene mutations in The
Dominican Republic. J Clin Endocr Metab 1996;
81:1730-5.
6. Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, et
al. The identification of 5α-reductase-2 and 17β-
hydroxysteroid dehydrogenase-3 gene defects in male
pseudohermaphrodites from a Turkish kindred. J Clin
Endocr Metab 1998; 83:560-9.
7. Imperato-McGinley J, Miller M, Wilson JD, Peterson
RE, Shackleton C, Gajdusek DC. A cluster of male
pseudohermaphrodites with 5-alpha-reductase defi-
ciency in Papua New Guinea [abstract]. Clin Endocr
1991;34:293-8.
8. Urological Sciences Research Foundation. The
‘Guevedoces’ of the Dominican Republic. 2002 July
22. Available from: URL: http://www.USRF.org/news/
010308-guevedoces.html
9. Brook CGD. A guide to the practice of paediatric en-
docrinology. 1 st ed. Cambridge: Cambridge University
Press; 1993. p. 1-17.
10. Warne GL, Zajac JD. Disorders of sexual differentia-
tion. Endocr Metab Clin J 1998;27:945-67.
11. Anhalt H, Neely EK, Hintz RL. Ambiguous genitalia.
Pediatr Rev 1996;17:213-20.
12. Boehmer ALM, Brinkmann AO, Nijman RM, Verleun-
Mooijman MCT, Ruiter PD, Niermeijer MF, et al. Phe-
notypic variation in a family with partial androgen in-
sensitivity syndrome explained by differences in 5a-
dihydrotestosterone availability. J Clin Endocr Metab
2001;86:1240-6.
13. Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A,
Munichor M, et al. Clinical, biochemical, and genetic
findings in a large pedigree of male and female patients
with 5-alpha-reductase 2 deficiency. J Clin Endocr
Metab 1996;81:2821-7.
14. Kalantaridou SN, Chrousos GP. The impact of the
human genome on endocrinology: special features. J
Clin Endocr Metab 2002;87:2481-94.
15. Thigpen AE, Davis DL, Gautier T, Imperato-
McGinley J, Russell DW. The molecular basis of ste-
roid 5-alpha-reductase 2 deficiency in a large Domini-
can kindred. New Eng J Med 1992;327:1216-9.
16. Boudon C, Lumbroso S, Lobaccaro JM, Szarras-
Czapnik M, Romer TE, Garandeau P. Molecular study
of the 5-alpha-reductase type 2 gene in three Euro-
pean families with 5-alpha-reductase deficiency. J Clin
Endocr Metab 1995;80:2149-53.
17. Nordenskjold A, Ivarsson SA. Molecular character-
ization of 5α-reductase type 2 deficiency and fertility
in a Swedish family. J Clin Endocr Metab
1998;83:3236-8.
18. Achermann JC, Ozisik G, Meeks JJ, Jameson JL. Ge-
netic causes of human reproductive disease. J Clin
Endocr Metab 2002;87:2447-54.
19. Chavez B, Valdez E, Vilchis F. Uniparental disomy in
steroid 5-alpha-reductase 2 deficiency. J Clin Endocr
Metab 2000;85:3147-50.
20. Imperato-McGinley J, Gautier T, Pichardo M,
Shackleton C. The diagnosis of 5α-reductase defi-
ciency in infancy. J Clin Endocr Metab
1986;63:1313-8.
21. Hiort O, Sinnecker GHG, Willenberg H, Lehners A,
Zollner A, Struve D. Nonisotop single strand confor-
mation analysis of the 5-alpha-reductase type 2 gene
for the diagnosis of 5-alpha-reductase deficiency. J
Clin Endocr Metab 1996;81:3415-9.
22. Honour JW, Savage MO. Testicular endocrine func-
tion. In: Ranke MB, editor. Diagnostics of endocrine
function in children and adolescents. 2nd ed. Leipzig:
Johann Ambrosius Barth Verlag; 1996. p. 314-25.
23. Mendonca BB, Inacio M, Costa EM, Arnhold IJ, Silva
FA, Nicolau W, et al. Male pseudohermaphroditism
due to steroid 5 alpha-reductase 2 deficiency: diag-
nosis, psychological evaluation, and management.
Medicine 1996;75:64-76.
24. Meyer-Bahlburg HFL. Gender assignment and reas-
signment in 46,XY pseudohermaphroditism and related
conditions. J Clin Endocr Metab 1999;84:3455-8.
25. Van Wyk JJ, Calikoglu AS. Should boys with micro-
penis be reared as girls? J Pediatr 1999;134:537-8.
26. Price P, Wass JAH, Griffin JE, Leshin M, Savage MO,
Large DM, et al. High dose androgen therapy in male
pseudohermaphroditism due to 5-alpha-reductase de-
ficiency and disorders of the androgen receptor. J Clin
Invest 1984;74:1496-508.
27. Cai LQ, Fratianni CM, Gautier T, Imperato-McGinley
J. Dihydrotestosteronee regulation of semen in male
pseudohermaphroditism with 5α-reductase deficiency.
J Clin Endocrinol Metab 1994;79:409-14.
28. Katz MD, Kligman I, Cai LQ, Zhu YS, Fratianni CM,
Zervoudakis I, et al. Paternity in intrauterine insemi-
nation with sperm from a man with 5-alpha-reduc-
tase-2 deficiency. New Eng J Med 1997;336:994-7.
editors. Clinical endocrinology. 1 st ed. Philadelphia: JB
Lippincott; 1987. p. 1-18.
2. Wilson BE. 5-alpha-reductase deficiency. eMed J [se-
rial online] 2001 July [cited 2002 July 15]; 2(7):[10
sections]. Available from: URL: http://
www.eMedicine.com/PED/topic 1980.html
3. Rapaport R. Disorders of the gonads. In: Behrman RE,
Kliegman RM, Jenson HB, editors. Nelson textbook of
pediatrics. 16 th ed. Philadelphia: WB Saunders; 2000.
p. 1744-66.
4. Andon M, Friedman SC. Ambiguous genitalia, micro-
penis, hypospadias, and cryptorchidism. In: Lifshitz F,
editor. A clinical guide. Pediatric endocrinology. 3 rd ed.
New York: Marcel Dekker; 1996. p. 281-303.
5. Cai LQ, Zhu YS, Katz MD, Herrera C, Baez J, DeFillo-
Ricart M, et al. 5α-reductase-2 gene mutations in The
Dominican Republic. J Clin Endocr Metab 1996;
81:1730-5.
6. Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, et
al. The identification of 5α-reductase-2 and 17β-
hydroxysteroid dehydrogenase-3 gene defects in male
pseudohermaphrodites from a Turkish kindred. J Clin
Endocr Metab 1998; 83:560-9.
7. Imperato-McGinley J, Miller M, Wilson JD, Peterson
RE, Shackleton C, Gajdusek DC. A cluster of male
pseudohermaphrodites with 5-alpha-reductase defi-
ciency in Papua New Guinea [abstract]. Clin Endocr
1991;34:293-8.
8. Urological Sciences Research Foundation. The
‘Guevedoces’ of the Dominican Republic. 2002 July
22. Available from: URL: http://www.USRF.org/news/
010308-guevedoces.html
9. Brook CGD. A guide to the practice of paediatric en-
docrinology. 1 st ed. Cambridge: Cambridge University
Press; 1993. p. 1-17.
10. Warne GL, Zajac JD. Disorders of sexual differentia-
tion. Endocr Metab Clin J 1998;27:945-67.
11. Anhalt H, Neely EK, Hintz RL. Ambiguous genitalia.
Pediatr Rev 1996;17:213-20.
12. Boehmer ALM, Brinkmann AO, Nijman RM, Verleun-
Mooijman MCT, Ruiter PD, Niermeijer MF, et al. Phe-
notypic variation in a family with partial androgen in-
sensitivity syndrome explained by differences in 5a-
dihydrotestosterone availability. J Clin Endocr Metab
2001;86:1240-6.
13. Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A,
Munichor M, et al. Clinical, biochemical, and genetic
findings in a large pedigree of male and female patients
with 5-alpha-reductase 2 deficiency. J Clin Endocr
Metab 1996;81:2821-7.
14. Kalantaridou SN, Chrousos GP. The impact of the
human genome on endocrinology: special features. J
Clin Endocr Metab 2002;87:2481-94.
15. Thigpen AE, Davis DL, Gautier T, Imperato-
McGinley J, Russell DW. The molecular basis of ste-
roid 5-alpha-reductase 2 deficiency in a large Domini-
can kindred. New Eng J Med 1992;327:1216-9.
16. Boudon C, Lumbroso S, Lobaccaro JM, Szarras-
Czapnik M, Romer TE, Garandeau P. Molecular study
of the 5-alpha-reductase type 2 gene in three Euro-
pean families with 5-alpha-reductase deficiency. J Clin
Endocr Metab 1995;80:2149-53.
17. Nordenskjold A, Ivarsson SA. Molecular character-
ization of 5α-reductase type 2 deficiency and fertility
in a Swedish family. J Clin Endocr Metab
1998;83:3236-8.
18. Achermann JC, Ozisik G, Meeks JJ, Jameson JL. Ge-
netic causes of human reproductive disease. J Clin
Endocr Metab 2002;87:2447-54.
19. Chavez B, Valdez E, Vilchis F. Uniparental disomy in
steroid 5-alpha-reductase 2 deficiency. J Clin Endocr
Metab 2000;85:3147-50.
20. Imperato-McGinley J, Gautier T, Pichardo M,
Shackleton C. The diagnosis of 5α-reductase defi-
ciency in infancy. J Clin Endocr Metab
1986;63:1313-8.
21. Hiort O, Sinnecker GHG, Willenberg H, Lehners A,
Zollner A, Struve D. Nonisotop single strand confor-
mation analysis of the 5-alpha-reductase type 2 gene
for the diagnosis of 5-alpha-reductase deficiency. J
Clin Endocr Metab 1996;81:3415-9.
22. Honour JW, Savage MO. Testicular endocrine func-
tion. In: Ranke MB, editor. Diagnostics of endocrine
function in children and adolescents. 2nd ed. Leipzig:
Johann Ambrosius Barth Verlag; 1996. p. 314-25.
23. Mendonca BB, Inacio M, Costa EM, Arnhold IJ, Silva
FA, Nicolau W, et al. Male pseudohermaphroditism
due to steroid 5 alpha-reductase 2 deficiency: diag-
nosis, psychological evaluation, and management.
Medicine 1996;75:64-76.
24. Meyer-Bahlburg HFL. Gender assignment and reas-
signment in 46,XY pseudohermaphroditism and related
conditions. J Clin Endocr Metab 1999;84:3455-8.
25. Van Wyk JJ, Calikoglu AS. Should boys with micro-
penis be reared as girls? J Pediatr 1999;134:537-8.
26. Price P, Wass JAH, Griffin JE, Leshin M, Savage MO,
Large DM, et al. High dose androgen therapy in male
pseudohermaphroditism due to 5-alpha-reductase de-
ficiency and disorders of the androgen receptor. J Clin
Invest 1984;74:1496-508.
27. Cai LQ, Fratianni CM, Gautier T, Imperato-McGinley
J. Dihydrotestosteronee regulation of semen in male
pseudohermaphroditism with 5α-reductase deficiency.
J Clin Endocrinol Metab 1994;79:409-14.
28. Katz MD, Kligman I, Cai LQ, Zhu YS, Fratianni CM,
Zervoudakis I, et al. Paternity in intrauterine insemi-
nation with sperm from a man with 5-alpha-reduc-
tase-2 deficiency. New Eng J Med 1997;336:994-7.
Published
2016-10-10
How to Cite
1.
Jong D, Pulungan A, AAP B, Batubara J. 5-alpha-reductase deficiency: a case report. PI [Internet]. 10Oct.2016 [cited 22Dec.2024];43(6):234-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/700
Section
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Received 2016-09-24
Accepted 2016-09-24
Published 2016-10-10
Accepted 2016-09-24
Published 2016-10-10
