| 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. | |
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MedLine Citation:
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PMID: 14986122 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONCLUSION: 45,X/46,XY mosaicism remains undetected in some short boys because this group is not routinely karyotyped. We recommend chromosomal analysis of boys with otherwise unexplained short stature who are short for their families. Growth hormone treatment should be offered to short boys with 45,X/46,XY mosaicism and a predicted adult height below the mid-parental range within clinical trials. |
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Authors:
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Annette Richter-Unruh; Sabine Knauer-Fischer; Stefan Kaspers; Beate Albrecht; Gabriele Gillessen-Kaesbach; Berthold P Hauffa |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2004-02-18 |
Journal Detail:
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Title: European journal of pediatrics Volume: 163 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2004 Apr |
Date Detail:
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Created Date: 2004-03-22 Completed Date: 2004-08-31 Revised Date: 2013-05-20 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 251-6 Citation Subset: IM |
Affiliation:
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Department of Haematology/Oncology and Endocrinology, University Children's Hospital, Hufelandstrasse 55, 45122 Essen, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Body Height
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drug effects,
genetics Chromosomes, Human, X / genetics Chromosomes, Human, Y / genetics Growth Disorders / drug therapy*, genetics Growth Hormone / therapeutic use* Humans Male Mosaicism* Phenotype Sex Chromosome Aberrations* |
| Chemical | |
Reg. No./Substance:
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9002-72-6/Growth Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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