ambiguous external genitalia

genital ambiguity

incomplete development of fetal genitalia as a result of excessive androgen action on a female fetus or inadequate amounts of androgen in a male fetus.

am·big·u·ous ex·ter·nal gen·i·ta·li·a

(am-big'yū-ŭs eks-tĕr'năl jen'i-tā'lē-ă)
External genitalia not clearly of either sex; most commonly designates external genitalia that are incompletely masculinized.
See also: genital ambiguity
References in periodicals archive ?
Ambiguous external genitalia due to defect of 5-?-reductase in seven Iraqi patients: prevalence of a novel mutation.
Other characteristic of CD is ambiguous external genitalia. Approximately 75% of individuals with CD and 46,XY karyotype have intersex or even a normal female external genitalia.
Ambiguous external genitalia due to defect of 5-[alpha]-reductase in seven Iraqi patients: prevalence of a novel mutation.
Most patients with TH have ambiguous external genitalia, masculinized to variable degrees, although occasionally completely normal appearing mixed male and female genitalia have been reported.[sup.1] Overall, 75% of patients with TH are raised as male; in 80% of these, chordee, hypospadias and cryptorchidism can be seen.[sup.2,3] In the 25% raised as female, clitoromegaly can be present.
(2011) [3] reported 6 patients with ambiguous external genitalia with the age ranges from birth to 16 years.
[3.] Jaja T, Yarhere I, Anochie IC, Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria.
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia. J Hum Genet 2008; 53:401-6.
Among the variety of causes of ambiguous geni- talia, congenital adrenal hyperplasia (CAH) is the commonest reported cause in the presence of 46XX karyotype.1,2 Virilized females with 46 XX karyo- type have ambiguous external genitalia but normal internal female genitalia.
(10) DSD is not a single disorder but rather a spectrum of conditions ranging from those with ambiguous external genitalia, those with external female genitalia and varying degrees of internal testis.
These patients usually present with evidence of AMH deficiency as well as androgen deficiency, and therefore have mullerian duct derivatives and ambiguous external genitalia.[8] Mutations and deletions in genes involved in the testes determination and differentiation cascade have been implicated in the etiology of DMP.[15]