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Fertil Steril. 2009 Mar;91(3):934.e15-8. doi: 10.1016/j.fertnstert.2008.07.1770. Epub 2008 Sep 30.

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

Author information

1
First Department of Pediatrics, Medical School, Athens University, Athens, Greece.

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.

[Indexed for MEDLINE]

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