Linkage studies between HLA-A,B,D alleles and congenital adrenal hyperplasia (CAH)

Grosse‐Wilde, H.; Well, Jay A.; Albert, E. D.; Scholz, S.; Bidlingmaier, F.; Knorr, Dietrich

doi:10.1203/00006450-197811000-00041

Cited by 4 publications

(2 citation statements)

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“…Several investigators demonstrated a mild deficiency of 21-hydroxylase in parents by hormonal measurements. Other investigators have corroborated by hormonal measurements the HLA genotyping prediction ofheterozygosity (Grosse-Wilde et al 1978, 1979Mauseth et al 1980;Sobel et al 1980). 1979;Cassorla et al 1980).…”

Section: B Hla Linkagementioning

confidence: 84%

Congenital Adrenal Hyperplasia

New

Levine

1984

Monographs on Endocrinology

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This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically those of translation, reprinting, fe-use of illustrations, broadcasting, reproduction by photocopying machine or similar means, and storage in data banks. Under §54 of the German Copyright Law where copies are made for other than private use. a fee is payable to 'Verwertungsgesellschaft Wort'. Munich. 1[. Springer-Verlag Berlin. Heidelberg 1984 Softcover reprint of the hardcover 1 st edition 1984The use of registered names, trademarks, etc. in this publication does not imply. even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.Product Liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature.

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Section: B Hla Linkagementioning

confidence: 84%

Congenital Adrenal Hyperplasia

New

Levine

1984

Monographs on Endocrinology

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“…Knorr et al (1975Knorr et al ( , 1977, Lee 8c Gareis (1975), Gutai et al (1977) and Krensky et al (1977) found significantly elevated levels of plasma 17a-hydroxyprogesterone (17-OH-P) in the majority of CAH hétéro¬ zygotes after ACTH stimulation. Moreover an improved detection of hétéro¬ zygotes could not be achieved by the additional measurement of plasma 21deoxycortisol (Krensky et al 1977 Levine et al (1978) and Grosse-Wilde et al (1978, 1979 reported a close genetic linkage between CAH and the HLA-blood group system. By HLAtyping, however, a reliable identification of CAH-heterozygotes is only possible in families where at least one CAH-patient is already known.…”

mentioning

confidence: 99%

Comparison of Two Tests for Heterozygosity in Congenital Adrenal Hyperplasia (Cah)

Weil¹,

Bidlingmaier²,

Sippell³

et al. 1979

Acta Endocrinologica

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The increase of plasma cortisol (F), androstenedione (A), 17\g=a\-hydroxyprogesterone (17-OH-P) and testosterone (T) was measured after iv administration of ACTH in heterozygotes for CAH and in controls under two different conditions:Test 1: ACTH stimulation was performed without any particular preparation.Test 2: 1.5 mg of dexamethasone (dex.) was given the evening before the ACTH stimulation. Plasma F, A, 17-OH-P and T were measured by specific radioimmunoassays (RIA). Following ACTH stimulation, the increase of 17-OH-P was significantly higher in CAH-heterozygotes than in controls in both tests (P < 0.0005). Heterozygotes were characterized by a 17-OH-P increase after ACTH stimulation exceeding the +2 sd limit of the 17-OH-P increase found in controls. The detection of female heterozygotes was considerably improved by the administration of dex. before testing (test 2). In males, however, a better identification of heterozygotes was obtained without previous administration of dex. (test 1). By these tests, 100% of female (test 2) and 79% of male (test 1) CAH heterozygotes could be correctly identified. There were no significant differences in the levels of F, A and T between heterozygotes and controls except for decreased T levels in test 1 (2P < 0.01) in most male heterozygotes after ACTH stimulation.

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