Follicle-Stimulating Hormone Receptor Mutation and Fertility
Recent studies on the molecular pathogenesis of diseases have shown that even infertility can be hereditary. This contrasts with the general opinion that infertility cannot by nature be an inherited condition. Rapid progress in the field of molecular biology has enabled the identification and detailed characterization of mutations and polymorphisms causing impaired fertility. Although the ultimate cause of such disorders cannot be treated today, affected individuals suffering from these conditions can be effectively helped with the new assisted reproductive techniques.
KeywordsLuteinizing Hormone Follicle Stimulate Hormone Follicle Stimulate Hormone Receptor FSHR Gene Serum Follicle Stimulate Hormone Level
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- Aittomäki K, Dieguez Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E-M, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:956–968CrossRefGoogle Scholar
- Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y (1994) Identification of two point mutations in the gene coding luteinizing hormone (LH) ß-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab 78: 107–113PubMedCrossRefGoogle Scholar
- Knobil E (1980) The neuroendocrine control of the menstrual cycle. Recent Progr Horm Res 1980:53–88Google Scholar
- Laue L, Wu SM, Kudo M, Hsueh AJW, Cutler GB Jr, Chan WY (1995) Missense mutations in exons 10 and 11 of the human luteinizing hormone receptor gene are associated with Leydig cell hypoplasia. Am J Hum Genet 57 [Suppl 1253]Google Scholar
- Rannikko AS, Zhang FP, Huhtaniemi I (1995) Ontogeny of folliclestimulating hormone receptor gene expression in the rat testis and ovary. Mol Cell Endocrinol 107:196–208Google Scholar
- Shenker A, Laue L, Kosugi S, Meredino JJ Jr, Minegishi T, Cutler GB Jr (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652–654 Sokka T and Huhtaniemi I (1990) Ontogeny of gonadotrophin receptors and gonadotrophin stimulated cAMP production in the neonatal rat ovary. J Endocrinol 127:297–303Google Scholar