References:
- Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on
management of intersex disorders. Archives of Disease in
Childhood 2006;91:554–563.
- Bertelloni S, Scaramuzzo RT, Parrini D, Baldinotti F, Tumini S, Ghirri
P. Early diagnosis of 5alpha-reductase deficiency in newborns. Sex Dev
2007;1:147-151.
- Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K,
MacDougall J. Androgen insensitivity syndrome. Lancet.
2012;380:1419-1428.
- Cohen-Kettenis
PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency
and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav
2005; 34:399.
- Maimoun
L, Philibert P, Cammas B, , , , et al. Phenotypical,
biological, and molecular heterogeneity of 5α-reductase deficiency: an
extensive international experience of 55 patients. J Clin Endocrinol
Metab 2011; 96:296.
- Maimoun
L, Philibert P, Cammas B, Audran F, , . Phenotypical,
biological, and molecular heterogeneity of 5α-reductase deficiency: an
extensive international experience of 55 patients. J Clin Endocrinol
Metab 2011; 96:296.
- Reddy DS, Danda VSR, Paidipally SR. Phenotype variation among siblings
with 5-alpha reductase deficiency: A case series. Indian J Urol. 2021
Apr-Jun;37(2):183-186. doi: 10.4103/iju.IJU_340_20. Epub 2021 Apr 1.
PMID: 34103805; PMCID: PMC8173944
- Stuchi-Perez
EG, Hackel
C , Oliveira
LE, Ferraz
LF , Oliveira
LC, Nunes-Silva D , et al. Diagnosis of 5alpha-reductase type
2 deficiency: contribution of anti-Müllerian hormone evaluation.J Pediatr
Endocrinol Metab. 2005 ;18:1383-9.
- Walter
KN, Kienzle FB, Frankenschmidt A, , , , et al. Difficulties in
diagnosis and treatment of 5alpha-reductase type 2 deficiency in a
newborn with 46,XY DSD. Horm Res Paediatr 2010; 74:67.
- Lauren M. McGee, Michael Lin-Brande, Kathryn Woods, Casey A. Seideman,
Pubertal Suppression and Surgical Management of a Patient with 5-alpha
Reductase Deficiency,Urology,2022
- Cheon CK. Practical approach to steroid 5alpha-reductase type 2
deficiency. European journal of pediatrics 2011 ; 170: 1-8.
- Sahakitrungruang T,Wacharasindhu S,Yeetong P,Snabboon T,Suphapeetiporn
K,Shotelersuk V, Identification of mutations in the SRD5A2 gene in
Thai patients with male pseudohermaphroditism. Fertility and sterility
2008; 90:2015.e11-5.
- Sultan C,Paris F,Terouanne B,Balaguer P,Georget V,Poujol N,et al.
Disorders linked to insufficient androgen action in male children.
Human reproduction update 2001; 7:314-22.
- Praveen
EP, Desai AK, Khurana ML, , , , et al. Gender identity of children
and young adults with 5alpha-reductase deficiency. J Pediatr
Endocrinol Metab 2008; 21:173.
- Houk
CP, Damiani D, Lee PA. Choice of gender in 5alpha-reductase
deficiency: a moving target. J Pediatr Endocrinol Metab 2005; 18:339.
- Sasaki G, Nakagawa K, Hashiguchi A, Hasegawa T, Ogata T, Murai M.
Giant seminoma in a patient with 5α-reductase type 2
deficiency. Journal of Urology 2003; 169:1080–1081.
- Mendonca
BB, Inacio M, Costa EM, , , , et al. Male pseudohermaphroditism due to
steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological
evaluation, and management. Medicine (Baltimore) 1996; 75:64.
Figure 1. Patient’s external genital after reconstruction surgery.