title: On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome.
abstract: In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented a catch-up after a delayed puberty with a final adult height of 160 cm. A remarkable finding was the development of macroorchidism in two mentally retarded Aarskog patients. The pathogenesis of macroorchidism in the fragile X syndrome and in other X-linked mental retardation syndromes is discussed.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D006130:Growth Disorders; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome; D013737:Testis / Q000002:abnormalities*