title: Conception and pregnancy outcome in a patient with 11-bp deletion of the steroidogenic acute regulatory protein gene.
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.
  
  
  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.
authors.affiliation: First Department of Pediatrics, Medical School, Athens University, Athens, Greece.
authors.forename: Amalia
authors.initials: A
authors.lastname: Sertedaki
authors.forename: Kostas
authors.initials: K
authors.lastname: Pantos
authors.forename: Christina
authors.initials: C
authors.lastname: Vrettou
authors.forename: Georgia
authors.initials: G
authors.lastname: Kokkali
authors.forename: Christina
authors.initials: C
authors.lastname: Christofidou
authors.forename: Emmanouel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Catherine
authors.initials: C
authors.lastname: Dacou-Voutetakis
mesh_terms: 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
chemical_list: D004967:Estrogens; D005300:Fertility Agents, Female; D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein