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. Design: Case report. Setting: Reproductive endocrinology unit of an academic medical center. Patient(s): 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. Intervention(s): Blood sampling for hormonal and genetic investigations, transvaginal ultrasound. Main Outcome Measure(s): LH, FSH, E 2 , and βhCG serum levels. Ultrasound examination of the uterine cavity. Result(s): Three months after OCP withdrawal, the patient was amenorrheic. However, the βhCG 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. Conclusion(s): 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.