title: Malformation syndromes associated with disorders of sex development.
abstract: When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia.
authors.affiliation: Department of Urology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
authors.forename: John M
authors.initials: JM
authors.lastname: Hutson
authors.affiliation: Department of Gynaecology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
authors.forename: Sonia R
authors.initials: SR
authors.lastname: Grover
authors.affiliation: Department of Endocrinology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
authors.forename: Michele
authors.initials: M
authors.lastname: O'Connell
authors.affiliation: Department of Surgery, Austin Hospital, Studley Park Road, Heidelberg, Melbourne, VIC 3058, Australia.
authors.forename: Samuel D
authors.initials: SD
authors.lastname: Pennell
mesh_terms: D000818:Animals; D002972:Cleft Palate / Q000235:genetics; D030321:Denys-Drash Syndrome / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D052159:Frasier Syndrome / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities*; D006059:Gonadal Dysgenesis / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007006:Hypogonadism / Q000235:genetics; D007021:Hypospadias / Q000235:genetics; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics; D017624:WAGR Syndrome / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics