Literature DB >> 3873926

[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].

E Bois, E Mornet, A Chompret, J Feingold, J Hochez, V Goulet.   

Abstract

Incidence of congenital adrenal hyperplasia due to 21 hydroxylase deficiency was studied in France. Five hundred and twenty six patients born during the period 1963-1979 were found. Assuming complete ascertainment in females, the incidence of the disease is 0.43 X 10(-4) or 1: 23,044. The frequency of the carriers is 0.013 (1/76). The birth places of patients show an unequal geographic distribution. The mean inbreeding coefficient is 270 X 10(-5), a figure higher than the mean coefficient of France. The frequency of marriages between first cousins is slightly raised, 0.3%.

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Year:  1985        PMID: 3873926

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  4 in total

1.  Neonatal screening for congenital adrenal hyperplasia: a pilot study in France.

Authors:  J L Dhondt; C Dorche; J P Farriaux; C Courte
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Value of selective screening for congenital adrenal hyperplasia in Hungary.

Authors:  J Sólyom; I A Hughes
Journal:  Arch Dis Child       Date:  1989-03       Impact factor: 3.791

3.  Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics.

Authors:  Liewei Wang; Ezequiel Salavaggione; Linda Pelleymounter; Bruce Eckloff; Eric Wieben; Richard Weinshilboum
Journal:  J Steroid Biochem Mol Biol       Date:  2007-06-08       Impact factor: 4.292

4.  Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.

Authors:  Angham Al-Mutair; M Anwar Iqbal; Nadia Sakati; Abdullah Ashwal
Journal:  Ann Saudi Med       Date:  2004 Sep-Oct       Impact factor: 1.526

  4 in total

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