Sonography in prenatal diagnosis of congenital adrenal hyperplasia

Julien Saada, Anne Gaëlle Grebille, Marie Cécile Aubry, Arash Rafii Tabrizi, Yves Dumez, Alexandra Benachi

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt-wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second-trimester scan in the absence of a family history.

Original languageEnglish
Pages (from-to)627-630
Number of pages4
JournalPrenatal Diagnosis
Volume24
Issue number8
DOIs
Publication statusPublished - Aug 2004
Externally publishedYes

Fingerprint

Congenital Adrenal Hyperplasia
Prenatal Diagnosis
Ultrasonography
Second Pregnancy Trimester
First Pregnancy Trimester
Adrenal Glands
Aldosterone
Androgens
Early Diagnosis
Salts
Phenotype
Mutation
Incidence

Keywords

  • Congenital adrenal hyperplasia
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Saada, J., Grebille, A. G., Aubry, M. C., Tabrizi, A. R., Dumez, Y., & Benachi, A. (2004). Sonography in prenatal diagnosis of congenital adrenal hyperplasia. Prenatal Diagnosis, 24(8), 627-630. https://doi.org/10.1002/pd.948

Sonography in prenatal diagnosis of congenital adrenal hyperplasia. / Saada, Julien; Grebille, Anne Gaëlle; Aubry, Marie Cécile; Tabrizi, Arash Rafii; Dumez, Yves; Benachi, Alexandra.

In: Prenatal Diagnosis, Vol. 24, No. 8, 08.2004, p. 627-630.

Research output: Contribution to journalArticle

Saada, J, Grebille, AG, Aubry, MC, Tabrizi, AR, Dumez, Y & Benachi, A 2004, 'Sonography in prenatal diagnosis of congenital adrenal hyperplasia', Prenatal Diagnosis, vol. 24, no. 8, pp. 627-630. https://doi.org/10.1002/pd.948
Saada, Julien ; Grebille, Anne Gaëlle ; Aubry, Marie Cécile ; Tabrizi, Arash Rafii ; Dumez, Yves ; Benachi, Alexandra. / Sonography in prenatal diagnosis of congenital adrenal hyperplasia. In: Prenatal Diagnosis. 2004 ; Vol. 24, No. 8. pp. 627-630.
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