Objective: To report the pregnancy outcome of a patient with congenital lipoid adrenal hyperplasia (CLAH) due to an 11-bp deletion of the steroidogenic acute regulatory protein (StAR) gene.
Design: Case report.
Setting: University-based pediatric endocrinology unit and private IVF clinic.
Patient(s): A 24-year-old woman homozygous for a StAR gene deletion, married to a man heterozygous for the same molecular defect.
Intervention(s): Ovarian stimulation, oocyte retrieval followed by IVF, blastomere biopsy, preimplantation genetic diagnosis, and additional estrogen support until placental function initiation.
Main outcome measure(s): Normal pregnancy outcome and delivery of a healthy newborn.
Result(s): A female patient with CLAH gave birth to a normal newborn after IVF and preimplantation genetic diagnosis.
Conclusion(s): Pregnancy is feasible in patients with StAR gene mutations, provided that extra estrogens are offered until placental function ensues.