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Article

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.

European journal of pediatrics - 1 Apr 2004

Richter-Unruh Annette, Knauer-Fischer Sabine, Kaspers Stefan, Albrecht Beate, Gillessen-Kaesbach Gabriele, Hauffa Berthold P

Abstract excerpt

UNLABELLED: Girls with unexplained short stature are routinely screened for the presence of Ullrich-Turner syndrome by clinical examination, laboratory tests, and karyotyping. In this study, we performed chromosomal analysis in boys to explore the role of 45,X/46,XY mosaicism for short stature in males. Short-term effects of growth hormone treatment in male 45,X/46,XY individuals were compared retrospectively to...

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PMID: 14986122
DOI: 10.1007/s00431-004-1406-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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