In:
Gynecologic and Obstetric Investigation, S. Karger AG, Vol. 58, No. 2 ( 2004), p. 114-116
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. 〈 i 〉 Pit-1 〈 /i 〉 gene and 〈 i 〉 Prop-1 〈 /i 〉 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 〈 i 〉 Pit-1 〈 /i 〉 or 〈 i 〉 Prop-1 〈 /i 〉 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.
Type of Medium:
Online Resource
ISSN:
0378-7346
,
1423-002X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2004
detail.hit.zdb_id:
1482695-1
