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.


METHODS
Case report.


METHODS
University-based pediatric endocrinology unit and private IVF clinic.


METHODS
A 24-year-old woman homozygous for a StAR gene deletion, married to a man heterozygous for the same molecular defect.


METHODS
Ovarian stimulation, oocyte retrieval followed by IVF, blastomere biopsy, preimplantation genetic diagnosis, and additional estrogen support until placental function initiation.


METHODS
Normal pregnancy outcome and delivery of a healthy newborn.


RESULTS
A female patient with CLAH gave birth to a normal newborn after IVF and preimplantation genetic diagnosis.


CONCLUSIONS
Pregnancy is feasible in patients with StAR gene mutations, provided that extra estrogens are offered until placental function ensues.
Sertedaki
Amalia
A
First Department of Pediatrics, Medical School, Athens University, Athens, Greece.
Pantos
Kostas
K
Vrettou
Christina
C
Kokkali
Georgia
G
Christofidou
Christina
C
Kanavakis
Emmanouel
E
Dacou-Voutetakis
Catherine
C
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010064:Embryo Implantation; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D005300:Fertility Agents, Female / Q000627:therapeutic use; D005307:Fertilization in Vitro; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007247:Infertility, Female / Q000235:genetics / Q000628:therapy*; D050498:Live Birth; D008297:Male; D054315:Oocyte Retrieval; D010062:Ovulation Induction; D010750:Phosphoproteins / Q000235:genetics*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D027724:Reproductive Techniques, Assisted; D017384:Sequence Deletion; D055815:Young Adult; D000098682:Steroidogenic Acute Regulatory Protein
D004967:Estrogens; D005300:Fertility Agents, Female; D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein