The ovarian hyperstimulation syndrome most often occurs as aniatrogenic complication of ovarian-stimulation treatments forin vitro fertilization (the incidence of severe forms rangesfrom 0.5 to 5 percent).1 The clinical manifestations vary fromabdominal distention and discomfort to potentially life-threatening,massive ovarian enlargement and capillary leak with fluid sequestrationin a third space.2 Although the presence of human chorionicgonadotropin is invariably associated with the condition, thepathophysiological mechanism remains undefined.3
The overproduction of endogenous chorionic gonadotropin duringpregnancy has been associated with spontaneous ovarian hyperstimulationsyndrome (also termed hyperreactio luteinalis of the first trimester),as well as with . . . [Full Text of this Article]
Case Report
Methods
Sequencing of the Gene for the Follicle-Stimulating Hormone Receptor
Functional Characterization of the Mutation
Results
Sequence Determination
Functional Characterization of the Mutant Receptor
Discussion
Source Information
From the Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Faculté de Médecine, Université Libre de Bruxelles (G.S., G.V., S.C.); and the Service de Génétique Médicale (G.S., G.V.) and Clinique de Fertilité (A.D.), Hôpital Erasme both in Brussels, Belgium; and the Department of Obstetrics, Gynecology, and Reproductive Sciences (O.O., R.P.) and the Reproductive Biology Research Unit (R.P.), College of Medicine, University of Saskatchewan, Saskatoon, Canada.
Address reprint requests to Dr. Vassart at the IRIBHM, 808 Rte. de Lennik, B-1070 Brussels, Belgium, or at gvassart@ulb.ac.be.
This article has been cited by other articles:
Feng, X., Muller, T., Mizrachi, D., Fanelli, F., Segaloff, D. L.
(2008). An Intracellular Loop (IL2) Residue Confers Different Basal Constitutive Activities to the Human Lutropin Receptor and Human Thyrotropin Receptor through Structural Communication between IL2 and Helix 6, via Helix 3. Endocrinology
149: 1705-1717
[Abstract][Full Text]
Edwards-Silva, R. N., Han, C. S., Hoang, Y., Kao, L.-C.
(2008). Spontaneous Ovarian Hyperstimulation in a Naturally Conceived Pregnancy With Uncontrolled Hypothyroidism. Obstet Gynecol
111: 498-501
[Abstract][Full Text]
Kajitani, T., Liu, S., Maruyama, T., Uchida, H., Sakurai, R., Masuda, H., Nagashima, T., Ono, M., Arase, T., Yoshimura, Y.
(2008). Analysis of serum FSH bioactivity in a patient with an FSH-secreting pituitary microadenoma and multicystic ovaries: A case report. Hum Reprod
23: 435-439
[Abstract][Full Text]
Binder, H., Dittrich, R., Hager, I., Muller, A., Oeser, S., Beckmann, M. W, Hamori, M., Fasching, P. A, Strick, R.
(2008). Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome. Reproduction
135: 107-116
[Abstract][Full Text]
Zhang, M., Tao, Y.-X., Ryan, G. L., Feng, X., Fanelli, F., Segaloff, D. L.
(2007). Intrinsic Differences in the Response of the Human Lutropin Receptor Versus the Human Follitropin Receptor to Activating Mutations. J. Biol. Chem.
282: 25527-25539
[Abstract][Full Text]
Ryan, G. L., Feng, X., d'Alva, C. B., Zhang, M., Van Voorhis, B. J., Pinto, E. M., Kubias, A. E. F., Antonini, S. R., Latronico, A. C., Segaloff, D. L.
(2007). Evaluating the Roles of Follicle-Stimulating Hormone Receptor Polymorphisms in Gonadal Hyperstimulation Associated with Severe Juvenile Primary Hypothyroidism. J. Clin. Endocrinol. Metab.
92: 2312-2317
[Abstract][Full Text]
Bonomi, M., Busnelli, M., Persani, L., Vassart, G., Costagliola, S.
(2006). Structural Differences in the Hinge Region of the Glycoprotein Hormone Receptors: Evidence from the Sulfated Tyrosine Residues. Mol. Endocrinol.
20: 3351-3363
[Abstract][Full Text]
Sultan, A, Velaga, M R, Fleet, M, Cheetham, T
(2006). Cullen's sign and massive ovarian enlargement secondary to primary hypothyroidism in a patient with a normal FSH receptor. Arch. Dis. Child.
91: 509-510
[Abstract][Full Text]
Allan, C. M., Garcia, A., Spaliviero, J., Jimenez, M., Handelsman, D. J.
(2006). Maintenance of Spermatogenesis by the Activated Human (Asp567Gly) FSH Receptor During Testicular Regression Due to Hormonal Withdrawal. Biol. Reprod.
74: 938-944
[Abstract][Full Text]
De Leener, A., Montanelli, L., Van Durme, J., Chae, H., Smits, G., Vassart, G., Costagliola, S.
(2006). Presence and Absence of Follicle-Stimulating Hormone Receptor Mutations Provide Some Insights into Spontaneous Ovarian Hyperstimulation Syndrome Physiopathology. J. Clin. Endocrinol. Metab.
91: 555-562
[Abstract][Full Text]
Ding, Z., Kim, S., Kunapuli, S. P.
(2006). Identification of a Potent Inverse Agonist at a Constitutively Active Mutant of Human P2Y12 Receptor. Mol. Pharmacol.
69: 338-345
[Abstract][Full Text]
Themmen, A. P N
(2005). An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms. Reproduction
130: 263-274
[Abstract][Full Text]
Costagliola, S., Urizar, E., Mendive, F., Vassart, G.
(2005). Specificity and promiscuity of gonadotropin receptors. Reproduction
130: 275-281
[Abstract][Full Text]
Rulli, S. B, Huhtaniemi, I.
(2005). What have gonadotrophin overexpressing transgenic mice taught us about gonadal function?. Reproduction
130: 283-291
[Abstract][Full Text]
Weghofer, A., Margreiter, M., Fauster, Y., Schaetz, T., Brandstetter, A., Boehm, D., Feichtinger, W.
(2005). Age-specific FSH levels as a tool for appropriate patient counselling in assisted reproduction. Hum Reprod
20: 2448-2452
[Abstract][Full Text]
Daelemans, C., Smits, G., de Maertelaer, V., Costagliola, S., Englert, Y., Vassart, G., Delbaere, A.
(2004). Prediction of Severity of Symptoms in Iatrogenic Ovarian Hyperstimulation Syndrome by Follicle-Stimulating Hormone Receptor Ser680Asn Polymorphism. J. Clin. Endocrinol. Metab.
89: 6310-6315
[Abstract][Full Text]
Farid, N. R., Szkudlinski, M. W.
(2004). Minireview: Structural and Functional Evolution of the Thyrotropin Receptor. Endocrinology
145: 4048-4057
[Abstract][Full Text]
Montanelli, L., Van Durme, J. J. J., Smits, G., Bonomi, M., Rodien, P., Devor, E. J., Moffat-Wilson, K., Pardo, L., Vassart, G., Costagliola, S.
(2004). Modulation of Ligand Selectivity Associated with Activation of the Transmembrane Region of the Human Follitropin Receptor. Mol. Endocrinol.
18: 2061-2073
[Abstract][Full Text]
Rodien, P., Jordan, N., Lefevre, A., Royer, J., Vasseur, C., Savagner, F., Bourdelot, A., Rohmer, V.
(2004). Abnormal stimulation of the thyrotrophin receptor during gestation. Hum Reprod Update
10: 95-105
[Abstract][Full Text]
Delbaere, A., Smits, G., Olatunbosun, O., Pierson, R., Vassart, G., Costagliola, S.
(2004). New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome?. Hum Reprod
19: 486-489
[Abstract][Full Text]