Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

• Published in: Fertility and sterility Vol. 77; no. 6; pp. 1288 - 1291
• Main Authors: Dewailly, Didier, Boucher, Anne, Decanter, Christine, Lagarde, Jean Pierre, Counis, Raymond, Kottler, Marie-Laure
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.06.2002; Elsevier Science
• Subjects: Adult; Base Sequence - genetics; Biological and medical sciences; Chorionic Gonadotropin, beta Subunit, Human - blood; Contraceptives, Oral - administration & dosage; Drug Administration Schedule; Estradiol - blood; Female; Follicle Stimulating Hormone - blood; Fundamental and applied biological sciences. Psychology; GnRH receptor gene; Gonadotropin-Releasing Hormone - therapeutic use; Homozygote; Humans; idiopathic hypogonadotropic hypogonadism; Luteinizing Hormone - blood; Mother. Fetoplacental unit. Mammary gland. Milk; mutation; Mutation - physiology; Ovulation Induction; Pedigree; pregnancy; Pregnancy - genetics; Pregnancy - physiology; Pregnancy. Parturition. Lactation; Receptors, LHRH - genetics; Ultrasonography, Prenatal; Uterus - diagnostic imaging; Vertebrates: reproduction; mutation; GnRH receptor gene; idiopathic hypogonadotropic hypogonadism; pregnancy; Endocrinopathy; Human; Hypogonadotropic hypogonadism; Hypothalamic diseases; Gonadotropin RH; Genital diseases; Hypothalamic hormone; Case study; Pregnancy; Female; Mutation; Hormone releasing factor; Hormonal receptor
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/S0015-0282(02)03102-3

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.