Jw. Persson et al., Investigation of a unique male and female sibship with Kallmann's syndromeand 46,XX gonadal dysgenesis with short stature, HUM REPR, 14(5), 1999, pp. 1207-1212
A sibship is described where the brother and a sister both have Kallmann's
syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and th
e 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 u
sing informative microsatellite markers predicts that a gene other than KAL
1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurre
ntly with ovarian dysgenesis found in this family.