title: Clinical and molecular evidence for the role of androgens and WT1 in testis descent.
abstract: Testicular maldescent is a common congenital disorder associated with testicular cancer and infertility. In this study, testis position was assessed in subjects with genital abnormalities due to AR mutations, Denys-Drash and WAGR syndromes or an unknown aetiology. Subjects with completely female genitalia and an AR mutation or an unknown aetiology had a greater proportion of maldescended testes (intra-abdominal and inguinal) than those with less severe abnormalities (P=0.00027 and P<0.000001, respectively). Whereas subjects with severe, moderate or mild abnormalities and an unknown aetiology, had similar testis positions. The Denys-Drash and WAGR syndrome group had a greater proportion of maldescended testes than the AR mutation (P=0.013) and unknown aetiology groups (P=0.00019). Androgen production and AR binding were normal in three subjects with Denys-Drash and WAGR syndromes. These findings indicate that the relationship between testis descent and genital abnormalities is a multi-factorial process with greater complexity than previously proposed.
authors.affiliation: Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK. hl215@mole.bio.cam.ac.uk
authors.forename: H N
authors.initials: HN
authors.lastname: Lim
authors.forename: I A
authors.initials: IA
authors.lastname: Hughes
authors.forename: J R
authors.initials: JR
authors.lastname: Hawkins
mesh_terms: D000728:Androgens / Q000502:physiology*; D003456:Cryptorchidism / Q000453:epidemiology / Q000209:etiology*; D016208:Databases, Factual; D030321:Denys-Drash Syndrome / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011944:Receptors, Androgen / Q000235:genetics / Q000502:physiology; D013737:Testis / Q000254:growth & development*; D017624:WAGR Syndrome / Q000150:complications; D025721:WT1 Proteins / Q000235:genetics / Q000502:physiology*
chemical_list: D000728:Androgens; D011944:Receptors, Androgen; D025721:WT1 Proteins