Literature DB >> 192874

The detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia.

J P Gutai, A A Kowarski, C J Migeon.   

Abstract

The response of plasma progesterone, 17 alpha-hydroxyprogesterone (17-OHP), and cortisol to intravenous ACTH was determined in 16 control subjects and seven sets of parents of children with congenital virilizing adrenal hyperplasia. The baseline and poststimulation concentrations of hormones (of each group) were similar except for those of 17-OHP in the parents which were significantly greater following administration of ACTH. When rates of increase were determined, those of progesterone and 17-OHP but not cortisol were significantly greater in the parents. The combined rate of increase of progesterone and 17-OHP was calculated; 10 of the 14 parents had a combined rate of increase greater than the mean plus two standard deviations of the control group. This test provides a simple method for the detection of some heterozygous carriers for CVAH.

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Year:  1977        PMID： 192874     DOI： 10.1016/s0022-3476(77)80560-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

1.  HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.

Authors:  F Parlato; G Pisano; G Misiano; E Cosentini; C Cacciapuoti; M R Cavalcanti; M Brai; A Bellastella
Journal:  J Endocrinol Invest       Date:  1992-06       Impact factor: 4.256

2.  Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Authors:  Y Higashi; A Tanae; H Inoue; Y Fujii-Kuriyama
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

Review 3.  Non-classic adrenal hyperplasia in hyperandrogenism: a reappraisal.

Authors:  C Morán; E S Knochenhauer; R Azziz
Journal:  J Endocrinol Invest       Date:  1998-11       Impact factor: 4.256

Review 4.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge.

Authors:  G E Bacon; R P Kelch
Journal:  J Endocrinol Invest       Date:  1979 Jan-Mar       Impact factor: 4.256

5.  New reliable biochemical marker for screening 21 alpha-hydroxylase deficiency without index person among hirsute women in agreement with HLA-haplotyping.

Authors:  A Chryssikopoulos; I Phocas; A Sarandakou; E Trakakis; D Rizos
Journal:  J Endocrinol Invest       Date:  1995-11       Impact factor: 4.256

6.  17-Hydroxyprogesterone response to ACTH in bilateral and monolateral adrenal incidentalomas.

Authors:  G P Bernini; G Brogi; M S Vivaldi; G F Argenio; M Sgrò; A Moretti; A Salvetti
Journal:  J Endocrinol Invest       Date:  1996-12       Impact factor: 4.256

7.  Serum 21-deoxycortisol and 17-hydroxypregnenolone in parents of patients with congenital adrenal hyperplasia.

Authors:  F Cassorla; A Tenore; J S Parks; J Marino; A M Bongiovanni
Journal:  J Endocrinol Invest       Date:  1980 Apr-Jun       Impact factor: 4.256

8.  Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.

Authors:  Vassos Neocleous; Christos Shammas; Alexia Ap Phedonos; Leonidas A Phylactou; Nicos Skordis
Journal:  Indian J Endocrinol Metab       Date:  2014-11

9.  Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.

Authors:  Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Alexia A P Phedonos; Michalis Picolos; Elena Andreou; Tassos C Kyriakides; George A Tanteles; Christos Shammas; Leonidas A Phylactou; Nicos Skordis
Journal:  Int J Endocrinol       Date:  2017-04-12       Impact factor: 3.257

10.  17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Authors:  Seher Polat; Yusuf Kemal Arslan
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-11-08
  10 in total

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