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Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.

作者信息

Persson J W, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser I S

机构信息

Sydney IVF, 4 O'Connell St, Sydney, NSW, Australia.

出版信息

Hum Reprod. 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207.

DOI:10.1093/humrep/14.5.1207
PMID:10325262
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.

摘要

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