HLA and 21 hydroxylase deficiency: <i>(congenital and late onset adrenal hyperplasia):</i>in the French population

Couillin, P; Rappaport, R; Kuttenn, Frédérique; Canlorbe, P; Hors, J; Marcelli-Barge, A; Feingold, Josué; Grisard, M. C.; Boué, J; Boué, A

doi:10.1111/j.1399-0039.1982.tb01424.x

Cited by 13 publications

(1 citation statement)

References 26 publications

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“…This lack of the linkage between the haplotype segment B14 DR1 to the 'non-classical' forms of 21-OH deficiency in our patients is in sharp con¬ trast with the data of other investigations (Laron et al 1980;Pollack et al 1981;Coullin et al 1982;O'Neill et al 1982). It must be concluded that in our patients of Yugoslav origin most probably there is no linkage disequilibrium between the genes for 'non-classical' 21-OH deficiency and the HLA 14 DR1 haplotype segment.…”

Section: Discussionsupporting

confidence: 88%

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population

Dumić¹,

Brkljacić²,

Mardesić³

et al. 1985

Acta Endocrinologica

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Five individuals with the asymptomatic, 'nonclassical', 'cryptic' form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency from 5 unrelated families were discovered during hormonal studies and HLA-typing performed in a series of 24 families with CAH due to 21-OH deficiency. Four of the 5 individuals with the 'cryptic' form of CAH belong to families where the index case was a patient with the classical form of CAH due to 21-OH deficiency. The fifth one originated from a family where the index case was a girl with the 'non-classical', 'late-onset' form of the disease. All the 5 individuals had no clinical symptoms in spite of clearcut biochemical signs of 21-OH deficiency: increased 17-OH-progesterone (17-OHP), dehydroepiandrosterone and androstenedione levels, particularly after ACTH-stimulation. The 17-OHP response upon ACTH stimulation of heterozygotes for this 'non-classical' form of 21-OH deficiency did not differ from the response of heterozygous individuals for the classical form of the disease. The results of this study confirm the hypothesis that individuals with the 'cryptic' form of CAH due to 21-OH deficiency are genetic compounds bearing one allele for the severe, classical form, and on the homologous locus, another one for the mild 'nonclassical' form of CAH due to 21-OH deficiency. Their genotype was 21-OHsevere/21-OHmild, The gene for 'cryptic' 21-OH deficiency, as well as the gene for the classical form of the disease is linked to the HLA system, but in our population apparently it is not in genetic disequilibrium with the antigens B 14 DR 1, as it was shown for other populations studied up to now.

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Section: Discussionsupporting

confidence: 88%

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population

Dumić¹,

Brkljacić²,

Mardesić³

et al. 1985

Acta Endocrinologica

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Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

et al. 1989

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The results of early prenatal diagnoses of congenital adrenal hyperplasia are reported. The determination of 17-hydroxyprogesterone values in amniotic fluid taken transabdominally at 11 weeks of gestation enabled prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency. There is a clear-cut difference between normal and pathological values at that time of pregnancy. This method of diagnosis can be combined with genotyping of the fetus by HLA-DNA probes on chorionic villus sampling or can be used alone. Prenatal diagnosis with a 21-OH probe is possible when a preliminary study has demonstrated that the index case is homozygous for the deletion.

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Endocrinology

Tiwari

Terasaki²

1985

HLA and Disease Associations

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HLA and 21 hydroxylase deficiency: (congenital and late onset adrenal hyperplasia):in the French population

Cited by 13 publications

References 26 publications

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

Endocrinology

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