Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
Gene
; 526(2): 490-3, 2013 Sep 10.
Article
de En
| MEDLINE
| ID: mdl-23664981
ABSTRACT
We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina. Patients were raised five as females and two as males. They are all unrelated with the exception of two couples of brothers. The diagnosis of 5-α-reductase-2 deficiency syndrome was first hypothesized on clinical grounds and then confirmed by molecular analysis. Direct sequencing analysis of the SRD5A2 gene revealed in five patients a novel homozygous frame-shift mutation (c.453delC) and in two related patients a previous reported missense mutation. The presence of the same mutation in unrelated patients of the same population suggests a possible founder effect. This report brings the 5-α-reductase-2 deficiency syndrome to the attention of clinical geneticists and child surgeons and discusses the appropriate clinical and surgical strategies for treating these patients.
Mots clés
46,XY DSD; 5-α-reductase type 2; AR; DHT; DSD; Founder effect; MRI; Phenotypic variability; SRD; SRD5A2; SRD5A2 gene; Steroid 5-α-reductase-2 deficiency; T; androgen receptor; dihydrotestosterone; hCG; human chorionic gonadotropin; magnetic resonance imaging; sex development disorder; steroid 5-α-reductase deficiency; testosterone
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Troubles du développement sexuel
/
Cholestenone 5 alpha-reductase
/
Mutation
Type d'étude:
Diagnostic_studies
/
Prevalence_studies
/
Risk_factors_studies
Limites:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
Gene
Année:
2013
Type de document:
Article
Pays d'affiliation:
Italie