Eur J Pediatr. 1994 Aug;153(8):556-9.

Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Source

First Department of Paediatrics, University of Ulm, Ulm/Donau, Germany.

Abstract

A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data from the deceased index case or direct molecular genetic techniques were not available. The pre- and postnatal diagnosis of 21-hydroxylase deficiency was based on mass spectrometric determination of 17-hydroxyprogesterone. Dexamethasone was discontinued for 5 days prior to amniocentesis. Monitoring of cortisol, dehydroepiandrosterone-sulphate and oestriol in maternal plasma revealed suppressed maternal and fetal adrenal glands throughout pregnancy. Plasma dexamethasone levels confirmed excellent maternal compliance. At term, an eutrophic girl with normal female genitalia was delivered. The diagnosis of 21-hydroxylase deficiency and salt loss was confirmed postnatally. Regarding the side-effects of dexamethasone, the benefit/risk ratio was in favour of prenatal dexamethasone therapy.

PMID:: 7957400; [PubMed - indexed for MEDLINE]

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Dexamethasone

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DEXAMETHASONE - HSDB

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Related citations in PubMed

[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]. [Monatsschr Kinderheilkd. 1989]
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency].
Schwab KO, Kruse K, Dörr HG, Horwitz AE, Spingler H. Monatsschr Kinderheilkd. 1989 May; 137(5):293-6.
Review First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). [J Clin Endocrinol Metab. 1990]
Review First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Speiser PW, Laforgia N, Kato K, Pareira J, Khan R, Yang SY, Whorwood C, White PC, Elias S, Schriock E. J Clin Endocrinol Metab. 1990 Apr; 70(4):838-48.
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency. [Med J Aust. 1992]
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
Haan EA, Serjeantson SW, Norman R, Rollond AK, Antonis P, Richards RI, Penfold JL. Med J Aust. 1992 Jan 20; 156(2):132-5.
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). [J Steroid Biochem Mol Biol. 1992]
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Karaviti LP, Mercado AB, Mercado MB, Speiser PW, Buegeleisen M, Crawford C, Antonian L, White PC, New MI. J Steroid Biochem Mol Biol. 1992 Mar; 41(3-8):445-51.
Review Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. [J Steroid Biochem Mol Biol. 1999]
Review Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI. J Steroid Biochem Mol Biol. 1999 Apr-Jun; 69(1-6):19-29.

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