Abstract

Premature infants are known to have elevated 17-hydroxyprogesterone and adrenal androgen concentrations immediately after birth, but the levels decrease rapidly. Virilization of normal premature female infants as a result of these high androgens has not been described. Three premature female infants born at 24 to 25 weeks' gestation, with birth weights 550 to 880 g and significant neonatal complications were noted to develop clitoromegaly 2 weeks to 3 months after birth. All 3 had elevated 17-hydroxyprogesterone >100 nmol/L and testosterone >3 nmol/L concentrations. All were treated as simple virilizing 21-hydroxylase deficiency, but subsequent genetic analysis revealed no CYP21 mutations. Follow-up after discontinuation of treatment revealed no recurrent virilization and normal adrenal steroid levels. Postnatal virilization in sick premature girls may occur, and investigations may suggest 21-hydroxylase deficiency. Genetic analysis of CYP21 should be performed before the diagnosis is confirmed. Further studies are needed to better document the natural history and possible causes of postnatal adrenal androgen secretion in sick premature infants.

Links

Publisher Full Text

Authors

Couch R, Girgis R

Institution

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

Source

Pediatrics 129:5 2012 May pg e1364-7

MeSH

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Diagnosis, Differential
Female
Humans
Infant, Extremely Low Birth Weight
Infant, Newborn
Infant, Premature, Diseases
Testosterone
Virilism

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22473363