Sonography in prenatal diagnosis of congenital adrenal hyperplasia

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

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18 Citations (Scopus)


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
Issue number8
Publication statusPublished - Aug 2004
Externally publishedYes



  • 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.