SHOX haploinsufficiency and its modifying factors.

SHOX (short stature homeobox-containing gene) is the first gene that has been shown to be relevant to the development of specific features in Turner's syndrome. This article reviews clinical findings in patients with SHOX haploinsufficiency caused by intragenic mutations, pseudoautosomal submicroscopic deletions, and cytogenetically recognizable Xp deletions. SHOX haploinsufficiency can result in not only short stature but also Turner skeletal features, such as cubitus valgus, short metacarpals, Madelung deformity, Léri-Weill dyschondrosteosis, high arched palate, and short neck.

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

We report an 11-year-old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadias with chordee, and underwent urethroplasty at 4 years of age. At 11 years of age, a gonadotropin releasing hormone (GnRH) test yielded a relatively high leutinizing hormone (LH) response (0.