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, E2, and betahCG serum levels. Ultrasound examination of the uterine cavity. RESULT(S): 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. 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.
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, E2, and betahCG serum levels. Ultrasound examination of the uterine cavity. RESULT(S): 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. 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 Q106RGnRHR gene mutation and allowing ovulation to occur.
Authors: Hyung-Goo Kim; Jennifer Pedersen-White; Balasubramanian Bhagavath; Lawrence C Layman Journal: Front Horm Res Date: 2010-04-08 Impact factor: 2.606
Authors: Lin Lin; Gerard S Conway; Nathan R Hill; Mehul T Dattani; Peter C Hindmarsh; John C Achermann Journal: J Clin Endocrinol Metab Date: 2006-09-12 Impact factor: 5.958
Authors: Valerie F Sidhoum; Yee-Ming Chan; Margaret F Lippincott; Ravikumar Balasubramanian; Richard Quinton; Lacey Plummer; Andrew Dwyer; Nelly Pitteloud; Frances J Hayes; Janet E Hall; Kathryn A Martin; Paul A Boepple; Stephanie B Seminara Journal: J Clin Endocrinol Metab Date: 2013-01-01 Impact factor: 5.958