Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (1)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Persson, J. W.
Right arrow Articles by Fraser, I. S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Persson, J. W.
Right arrow Articles by Fraser, I. S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 14, No. 5, 1207-1212, May 1999
© 1999 European Society of Human Reproduction and Embryology

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

Jeffrey W. Persson1,2,6, Karen Humphrey3, Cathy Watson3, Peter Taylor4, Don Leigh4, Brian McDonald4 and Ian S. Fraser5

1 Sydney IVF, 4 O'Connell St, Sydney, NSW, 2000, 2 Royal Prince Alfred Hospital, Camperdown, NSW, 2050, 3 School of Biological Sciences Macquarie University, North Ryde, NSW, 2109, 4 Department of Molecular Genetics, Royal South Sydney Hospital, Zetland, NSW, 2107 and 5 Department of Obstetrics and Gynaecology, University of Sydney, NSW, 2006, Australia

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.

Key words: anosmia/gonadal dysgenesis/hypogonadotrophic hypogonadism/Kallmann's syndrome/streak ovaries

6 To whom correspondence should be addressed at: Sydney IVF, 4 O'Connell St, Sydney, NSW, 2000, Australia


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Reprod UpdateHome page
M.E. Rubio-Gozalbo, C.S. Gubbels, J.A. Bakker, P.P.C.A. Menheere, W.K.W.H. Wodzig, and J.A. Land
Gonadal function in male and female patients with classic galactosemia
Hum. Reprod. Update, September 30, 2009; (2009) dmp038v1.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
B. Bhagavath, N. Xu, M. Ozata, R. L. Rosenfield, D. P. Bick, R. J. Sherins, and L. C. Layman
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
Mol. Hum. Reprod., March 1, 2007; 13(3): 165 - 170*.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.