A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
Idiopathic hypogonadotropic hypogonadism (IHH) is traditionally established by 1) the absence of spontaneous pubertal development by age 18 yr and 2) low sex steroids with inappropriately low gonadotropins in the absence of any functional or anatomic cause. To identify a novel disease locus for IHH, a genome wide scan was performed on a large, consanguineous Saudi family with 6 affected individuals. Linkage over a 1.06 Mb interval on chromosome 19p13.3 was established with a maximal two point LOD score of 5.17. Because numerous genes and hypothetical proteins are mapped to this region, further studies will be necessary to determine the precise genetic defect in this family.
Acierno
James S
JS
Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Shagoury
Jenna K
JK
Bo-Abbas
Yøusef
Y
Crowley
William F
WF
Seminara
Stephanie B
SB
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree