On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome

J P Fryns; H Van den Berghe

On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome

J Genet Hum. 1989 Sep;37(3):221-3.

Authors

J P Fryns¹, H Van den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 2625624

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.

Publication types

Case Reports

MeSH terms

Growth Disorders*
Intellectual Disability*
Male
Syndrome
Testis / abnormalities*