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 with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers. © 1995 Wiley-Liss, Inc.