title: [Penoscrotal hypospadias with XXYY chromosome pattern].
abstract: This is the report of a boy, 2 years and 4 months of age who presented with an penoscrotal hypospadia with normal appearing testes. Physical examination and routine laboratory tests revealed--besides a broad base of the nose and clinodactyly--no abnormality. The boy exhibits a normal speech development with retarded global intellectual development. Investigation of the hormon status revealed a disturbance of testosteron secretion and a hypergonadotropic hypogonadism. Chromosomal analysis in lymphocyte cultures revealed a XXYY karyotyp. This chromosomal pattern is seen in 3% of patients with Klinefelter syndrom; the estimated frequency is 1 in 25,000 population. A combination of an XXYY chromosomal pattern with a penoscrotal hypospadia has not been reported in the literature so far.
authors.affiliation: Universitäts-Kinderklinik, Innsbruck.
authors.forename: H
authors.initials: H
authors.lastname: Neugebauer
authors.forename: E
authors.initials: E
authors.lastname: Steichen-Gersdorf
authors.forename: J
authors.initials: J
authors.lastname: Glatzl
mesh_terms: D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007021:Hypospadias / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D013739:Testosterone / Q000097:blood
chemical_list: D006063:Chorionic Gonadotropin; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
vernacular_title: Penoscrotale Hypospadie mit XXYY-Chromosomensatz.