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Fertil Steril ; 91(3): 934.e15-8, 2009 Mar.
Article in English | MEDLINE | ID: mdl-18829024

ABSTRACT

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.


Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Embryo Implantation , Infertility, Female/therapy , Live Birth , Phosphoproteins/genetics , Preimplantation Diagnosis , Reproductive Techniques, Assisted , Sequence Deletion , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Estrogens/therapeutic use , Female , Fertility Agents, Female/therapeutic use , Fertilization in Vitro , Heterozygote , Homozygote , Humans , Infertility, Female/genetics , Male , Oocyte Retrieval , Ovulation Induction , Pregnancy , Young Adult
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