X-LINKED ICHTHYOSIS WITH HYPOGONADISM - NOT ALWAYS KALLMANNS-SYNDROME

We describe two males with congenital ichthyosis secondary to steroid sulphatase deficiency who also manifested delayed puberty with biochem ical features of hypogonadotrophic hypogonadism. In the first patient a history of cryptorchidism and the clinical findings of anosmia, micr openis and bimanual synkinesis suggested a contiguous gene syndrome, c omprising X-linked Kallmann's syndrome and X-linked ichthyosis. An X-Y chromosomal translocation involving the Xp22.3 locus was identified; deletions of the STS locus and of exons 10-14 of the KAL locus were su bsequently demonstrated. The second patient was euosmic and, although the STS locus was deleted in association with a peri centric inversion involving Xp22.3, no deletions were detected at the KAL locus. Clinic ally, he was felt to have constitutionally delay-ed puberty rather tha n hypogonadotropic hypogonadism and this diagnosis was substantiated b y his subsequent development.