Document Detail

An update to 21-hydroxylase deficient congenital adrenal hyperplasia.
MedLine Citation:
PMID:  19499408     Owner:  NLM     Status:  MEDLINE    
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH) is distinguished in classical (C-CAH) and non-classical form (NC-CAH), and it is also one of the most common autosomal recessive inherited disorders in humans. The prevalence of C-CAH is between 1:10,000 and 1:15,000 among the live neonates of North America and Europe while the NC-CAH occurs in approximately 0.2% of the general white population. The highest incidence of CAH (1:282 and 1:2141, respectively) has been evaluated in Yupik Eskimos in Alaska and in the populations of the island La Reunion (France), while the lower was detected in New Zealand newborns (0.3%). Nowadays, it has been established that except for the adrenal cortex in CAH cases, the adrenal medulla was also affected. In human 21-OH deficient adrenal gland it has been discovered that not only the chromaffin cells formed extensive neurites, expanding between adrenocortical cells, but also that the adrenal androgens promote outgrowth, whereas glucocorticoids preserve neuroendocrine cells. It seems that normal cortisol secretion by the adrenal cortex is necessary for adrenomedullary organogenesis. The synthesis of 21-OH is controlled by the active CYP21A2 gene located at a distance of 30 kb from a highly homologous pseudogene designated CYP21A1P.
Eftihios Trakakis; George Basios; Pantelis Trompoukis; George Labos; Ioannis Grammatikakis; Demetrios Kassanos
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology     Volume:  26     ISSN:  1473-0766     ISO Abbreviation:  Gynecol. Endocrinol.     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2010-01-05     Completed Date:  2010-03-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8807913     Medline TA:  Gynecol Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  63-71     Citation Subset:  IM    
Third Department of Obstetrics and Gynecology, University of Athens, Attikon University Hospital, Athens, Greece.
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MeSH Terms
Adrenal Hyperplasia, Congenital* / diagnosis,  epidemiology,  etiology,  genetics
Diagnostic Techniques, Endocrine
Genetic Counseling / methods
Genetics, Population / trends
Prenatal Diagnosis / methods
Steroid 21-Hydroxylase / genetics
Reg. No./Substance:
EC 21-Hydroxylase

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

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