Transient anomalies in genital appearance in some extremely preterm female infants may be the result of foetal programming causing a surge in LH and the over activation of the pituitary-gonadal axis

Abstract

AIM: Animal studies have linked foetal programming with the development of the polycystic ovarian syndrome, and metabolic syndrome, in adulthood. The objective is to describe the investigation of four extreme-premature female infants born between 25 and 29 weeks' gestation with apparent genital abnormalities in association with unusually high androgens and gonadotrophins, to postulate a cause and to raise awareness of pitfalls in assessment of these infants. METHODS: Clinical examination and biochemical evaluation of four infants referred for apparent congenital ambiguity. RESULTS: Female gender was assigned at birth. Chromosome analysis confirmed 46XX, urine steroid profiles demonstrated no..