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Adult Height of Subjects with Non-Classical 21-Hydroxylase Deficiency.
MedLine Citation:
PMID:  23298233     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
AIM: To determine whether non-classical 21-hydroxylase deficiency (NC21OHD) compromises adult height (AH), and to establish the clinical parameters affecting AH in subjects with NC21OHD. METHODS: A multicenter, retrospective review of medical records for clinical and biochemical parameters. The corrected height (CH) standard deviation score (SDS), defined as AH SDS minus mean parental height (MPH) SDS, was calculated for each patient, where MPH SDS is the average of the father's height SDS and the mother's height SDS. RESULTS: The study group consisted of 122 NC21OHD subjects whose median age at diagnosis was 8.7 years (range, 0.1-36). Seventy-two patients had two mild mutations, 22 had one mild and one severe mutation, 10 were heterozygous for one mild mutation, and 18 did not undergo molecular analysis. The CH SDS of the 66 patients who initiated hydrocortisone treatment during childhood was significantly lower than those who presented after achieving AH (P = 0.03). However, there was a negative correlation between age at diagnosis and AH SDS in the former group (R=-0.7, P = 0.03). Being heterozygous for one mild and one severe mutation (R=-0.7, P < 0.02) and age at diagnosis (R=-0.7, P = 0.03) were negatively associated with CH SDS. The CH SDS was significantly lower in those who had bone age advancement at diagnosis compared to those who did not (P = 0.04). CONCLUSION: The main determinants of AH in patients with NC21OHD are apparently age at diagnosis and initiation of therapy, and genotype. Early diagnosis and initiation of glucocorticoids therapy may improve height outcome in those presenting during childhood. ©2013 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.
Authors:
Ori Eyal; Yardena Tenenbaum-Rakover; Shlomit Shalitin; Shoshana Israel; Naomi Weintrob
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-8
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  -     ISSN:  1651-2227     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
©2013 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.
Affiliation:
Pediatric Endocrinology and Diabetes Unit, Dana Children's Hospital, The Tel Aviv Sourasky Medical Center.
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