Conception and pregnancy outcome in a patient with 11-bp deletion of the steroidogenic acute regulatory protein gene.

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.