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Gynecol Obstet Invest. 2004;58(2):114-6. Epub 2004 Jun 8.

Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency.

Author information

1
Department of Obstetrics and Gynecology, University of Vienna Medical School, Vienna, Austria. Thomas.Laml@akh-wien.ac.at

Abstract

We describe the case of a girl with combined pituitary hormone deficiency (CPHD) carrying a balanced chromosomal translocation t(10;11)(q26;q13) with paternal transmission. Her father, with no apparent physical abnormalities, had the karyotype: 46, XY, t(10;11)(q26;q13). CPHD denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary-derived hormones. Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD. Although our patient had a t(10;11) (q26q13) paternal chromosomal translocation, the phenotype was similar to that found in humans with different Pit-1 or Prop-1 gene alterations. Interestingly, the patient's father had the same translocation without phenotypic effects. In conclusion, we describe panhypopituitarism in a woman with a paternally transmitted translation, which appears to be phenotypically expressed only in females.

PMID:
15192287
DOI:
10.1159/000078864
[Indexed for MEDLINE]

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