Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency.
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.
Laml
Thomas
T
Department of Obstetrics and Gynecology, University of Vienna Medical School, Vienna, Austria. Thomas.Laml@akh-wien.ac.at
Preyer
Oliver
O
Umek
Wolfgang
W
Huber
Johannes
J
Hengstschläger
Markus
M
D000328:Adult; D002880:Chromosomes, Human, Pair 11; D004198:Disease Susceptibility; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D010907:Pituitary Hormones / Q000172:deficiency* / Q000235:genetics; D012720:Severity of Illness Index; D014178:Translocation, Genetic
D010907:Pituitary Hormones