Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene.
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.
Dewailly
Didier
D
Department of Diabetology and Endocrinology, Clinique Marc Linquette, Centre Hospitalier Régionale Universitaire, Lille, France. ddewaillyaaaaaaa2chru-lille.fr
Boucher
Anne
A
Decanter
Christine
C
Lagarde
Jean Pierre
JP
Counis
Raymond
R
Kottler
Marie-Laure
ML
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
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