title: Puberty reveals a familial disorder of sex development.
authors.forename: A K
authors.initials: AK
authors.lastname: Annamalai
authors.forename: A D
authors.initials: AD
authors.lastname: Cluroe
authors.forename: E
authors.initials: E
authors.lastname: Sala
authors.forename: S M
authors.initials: SM
authors.lastname: Park
authors.forename: J
authors.initials: J
authors.lastname: MacDougall
authors.forename: I A
authors.initials: IA
authors.lastname: Hughes
authors.forename: H L
authors.initials: HL
authors.lastname: Simpson
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D019943:Amino Acid Substitution; D003241:Consanguinity; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D011627:Puberty; D035781:Siblings; D014555:Urination Disorders / Q000209:etiology
chemical_list: D008565:Membrane Proteins; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human