title: Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene.
abstract: OBJECTIVE
  To report the occurrence of a spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the GnRH receptor (GnRHR) gene.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Reproductive endocrinology unit of an academic medical center.
  
  
  METHODS
  A 27-year-old woman who initially presented with partial idiopathic hypogonadotropic hypogonadism and who achieved a spontaneous pregnancy 3 months after oral contraceptive pill (OCP) withdrawal.
  
  
  METHODS
  Blood sampling for hormonal and genetic investigations, transvaginal ultrasound.
  
  
  METHODS
  LH, FSH, E2, and betahCG serum levels. Ultrasound examination of the uterine cavity.
  
  
  RESULTS
  Three months after OCP withdrawal, the patient was amenorrheic. However, the betahCG serum level was 149 IU/L. Transvaginal ultrasound 2 weeks later revealed the presence of one intrauterine sac containing two embryos with cardiac activity. At 9 weeks of gestation, no cardiac activity was found. A curettage was then performed, and the pathological examination indicated the presence of chorionic villi.
  
  
  CONCLUSIONS
  OCP withdrawal might have induced a transient situation with optimal endogenous pulsatile GnRH secretion, thus overriding the GnRH resistance induced by the partially inactivating Q106R GnRHR gene mutation and allowing ovulation to occur.
authors.affiliation: Department of Diabetology and Endocrinology, Clinique Marc Linquette, Centre Hospitalier Régionale Universitaire, Lille, France. ddewaillyaaaaaaa2chru-lille.fr
authors.forename: Didier
authors.initials: D
authors.lastname: Dewailly
authors.forename: Anne
authors.initials: A
authors.lastname: Boucher
authors.forename: Christine
authors.initials: C
authors.lastname: Decanter
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Lagarde
authors.forename: Raymond
authors.initials: R
authors.lastname: Counis
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Kottler
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D003276:Contraceptives, Oral / Q000008:administration & dosage; D004334:Drug Administration Schedule; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000627:therapeutic use; D006720:Homozygote; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D009154:Mutation / Q000502:physiology*; D010062:Ovulation Induction; D010375:Pedigree; D011247:Pregnancy / Q000235:genetics* / Q000502:physiology; D011966:Receptors, LHRH / Q000235:genetics*; D016216:Ultrasonography, Prenatal; D014599:Uterus / Q000000981:diagnostic imaging
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D003276:Contraceptives, Oral; D011966:Receptors, LHRH; D007987:Gonadotropin-Releasing Hormone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone