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Postnatal virilization mimicking 21-hydroxylase deficiency in 3 very premature infants

Robert Couch1, Rose Girgis

  • 1Department of Pediatrics, University of Alberta and Stollery Children’s Hospital, Edmonton, Alberta, Canada. bcouch@ualberta.ca

Pediatrics
|April 5, 2012
PubMed

Insights

Postnatal virilization in premature female infants can occur due to elevated androgens. Genetic analysis of CYP21 is crucial before diagnosing 21-hydroxylase deficiency in these cases.

Area of Science:

  • Pediatric Endocrinology
  • Neonatology
  • Genetics

Background:

  • Premature infants exhibit transiently elevated 17-hydroxyprogesterone and adrenal androgens post-birth.
  • Virilization in premature female infants due to these hormones is not well-documented.

Observation:

  • Three premature female infants (24-25 weeks gestation) with neonatal complications developed clitoromegaly.
  • Elevated 17-hydroxyprogesterone (>100 nmol/L) and testosterone (>3 nmol/L) were observed.

Findings:

  • Initial treatment for 21-hydroxylase deficiency was administered.
  • Genetic analysis revealed no CYP21 mutations, and virilization resolved after treatment cessation.
  • Adrenal steroid levels normalized post-treatment, indicating a non-pathological cause.

Implications:

  • Postnatal virilization in sick premature girls may mimic 21-hydroxylase deficiency.
  • CYP21 genetic testing is essential for accurate diagnosis.
  • Further research is needed to understand postnatal adrenal androgen secretion in premature infants.

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