VARIABLE PENETRANCE OF HYPOGONADISM IN A SIBSHIP WITH KALLMANN SYNDROME DUE TO A DELETION OF THE KAL GENE

We report on the clinical and molecular characterization of 3 sibs wit h X-linked ichthyosis and variable expression of Kallmann syndrome. On e of the affected brothers had mild hyposmia and showed normal puberta l progression. However, we demonstrated the same partial deletion of t he X-linked Kallmann gene, sparing the first exon in the mildly affect ed patient as well as in one of his severely affected brothers. (C) 19 95 Wiley-liss, Inc.