Document Detail

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.
MedLine Citation:
PMID:  14986122     Owner:  NLM     Status:  MEDLINE    
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.
Annette Richter-Unruh; Sabine Knauer-Fischer; Stefan Kaspers; Beate Albrecht; Gabriele Gillessen-Kaesbach; Berthold P Hauffa
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-02-18
Journal Detail:
Title:  European journal of pediatrics     Volume:  163     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-22     Completed Date:  2004-08-31     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  251-6     Citation Subset:  IM    
Department of Haematology/Oncology and Endocrinology, University Children's Hospital, Hufelandstrasse 55, 45122 Essen, Germany.
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MeSH Terms
Body Height / drug effects,  genetics
Chromosomes, Human, X / genetics
Chromosomes, Human, Y / genetics
Growth Disorders / drug therapy*,  genetics
Growth Hormone / therapeutic use*
Sex Chromosome Aberrations*
Reg. No./Substance:
9002-72-6/Growth Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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