title: Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
abstract: 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.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: M G
authors.initials: MG
authors.lastname: Rizzolo
authors.forename: M
authors.initials: M
authors.lastname: Ghezzi
authors.forename: S
authors.initials: S
authors.lastname: Di Maio
authors.forename: M P
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: B
authors.initials: B
authors.lastname: Incerti
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005091:Exons; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D017931:DNA Primers