Search

Your search keyword '"Laml, Thomas"' showing total 15 results
Start Over Author "Laml, Thomas"
15 results on '"Laml, Thomas"'

15. Chromosomal Translocation t(10;11)(q26;q13) in a Woman with Combined Pituitary Hormone Deficiency.

Author

Laml, Thomas, Preyer, Oliver, Umek, Wolfgang, Huber, Johannes, and Hengstschläger, Markus

Subjects
*PITUITARY hormones, *HUMAN abnormalities, *CHROMOSOMAL translocation, *AMENORRHEA, *SOMATOTROPIN
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. [ABSTRACT FROM AUTHOR]

Published
2004
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results