Gamuts

Hypospadias or ambiguous external genitalia

5α-Reductase deficiency is an autosomal recessive intersex condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2. The phenotype this usually causes is pseudovaginal perineoscrotal hypospadias, a configuration of the external genitalia of an infant. [Source: Wikipedia ]

May Be Caused by
Bardet-Biedl syndrome
Chromosome 3p- syndrome
Chromosome 4p- syndrome
Dubowitz syndrome
Ellis-van Creveld syndrome
Familial hypospadias
Fanconi anemia
Fetal primidone syndrome
Fraser syndrome
Hand-foot-genital syndrome
Laurence-Moon syndrome
Lenz microphthalmia syndrome
LEOPARD syndrome
Opitz BBBG syndrome
Popliteal pterygium syndrome
Reifenstein syndrome
Rieger syndrome
Schinzel-Giedion syndrome
Silver-Russell syndrome
Smith-Lemli-Opitz syndrome
Trisomy 13
Trisomy 18
VATER association
XXXXY syndrome
Zellweger syndrome
May Be Caused by
Bardet-Biedl syndrome
Chromosome 3p- syndrome
Chromosome 4p- syndrome
Dubowitz syndrome
Ellis-van Creveld syndrome
Familial hypospadias
Fanconi anemia
Fetal primidone syndrome
Fraser syndrome
Hand-foot-genital syndrome
Laurence-Moon syndrome
Lenz microphthalmia syndrome
LEOPARD syndrome
Opitz BBBG syndrome
Popliteal pterygium syndrome
Reifenstein syndrome
Rieger syndrome
Schinzel-Giedion syndrome
Silver-Russell syndrome
Smith-Lemli-Opitz syndrome
Trisomy 13
Trisomy 18
VATER association
XXXXY syndrome
Zellweger syndrome


Copyright © 2025, Charles E. Kahn, Jr., MD, MS
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