title: Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
abstract: A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family.
mesh_terms: D000328:Adult; D001706:Biopsy; D002874:Chromosome Mapping; D004392:Dwarfism / Q000235:genetics*; D005192:Family Health; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D000857:Olfaction Disorders / Q000235:genetics; D010053:Ovary / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome