{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T05:02:27Z","timestamp":1767848547995,"version":"3.49.0"},"reference-count":69,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"published-print":{"date-parts":[[2002,3]]},"DOI":"10.1053\/beem.2002.0185","type":"journal-article","created":{"date-parts":[[2002,12,10]],"date-time":"2002-12-10T20:48:30Z","timestamp":1039553310000},"page":"123-138","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["The role of mutations affecting gonadotrophin secretion and action in disorders of pubertal development"],"prefix":"10.1053","volume":"16","author":[{"given":"Ilpo T.","family":"Huhtaniemi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/beem.2002.0185_RF1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0303-7207(01)00619-0","article-title":"Phenotypic spectrum of mutations in DAX-l and SF-1","volume":"185","author":"Achermann","year":"2001","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0303-7207(01)00617-7","article-title":"Transcription factors in pituitary development","volume":"185","author":"Mullis","year":"2001","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF3","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1086\/302600","article-title":"Human genetics '99: Sexual development. Kallmann syndrome and the link between olfactory and reproductive development","volume":"65","author":"Rugarli","year":"1999","journal-title":"Americal Journal of Human Genetics"},{"key":"10.1053\/beem.2002.0185_RF4","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1210\/endo.142.6.8261","article-title":"Perspective: The importance of genetic defects in humans in elucidating the complexities of the hypothalamic\u2013pituitary\u2013gonadal axis","volume":"142","author":"Seminara","year":"2001","journal-title":"Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF5","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0303-7207(01)00462-2","article-title":"Kallmann syndrome: towards molecular pathogenesis","volume":"179","author":"Hardelin","year":"2001","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF6","first-page":"1532","article-title":"The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics","volume":"86","author":"Oliveira","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF7","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/269338a0","article-title":"Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism","volume":"269","author":"Cattanach","year":"1977","journal-title":"Nature"},{"key":"10.1053\/beem.2002.0185_RF8","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1056\/NEJM199711273372205","article-title":"A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor","volume":"337","author":"de Roux","year":"1997","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF9","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0198-14","article-title":"Mutations in gonadotropin-releasing hormone gene cause hypogonadotropic hypogonadism","volume":"18","author":"Layman","year":"1998","journal-title":"Nature Genetics"},{"key":"10.1053\/beem.2002.0185_RF10","first-page":"567","article-title":"The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred","volume":"84","author":"de Roux","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF11","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1210\/jcem.84.3.5518","article-title":"Resistance of hypogonadic patients with mutant GnRH receptor genes to pulsatile GnRH administration","volume":"84","author":"Caron","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF12","first-page":"3811","article-title":"Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor","volume":"84","author":"Pralong","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF13","first-page":"3002","article-title":"A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect","volume":"85","author":"Kottler","year":"2000","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF14","first-page":"2680","article-title":"Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction","volume":"86","author":"Costa","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF15","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1046\/j.1365-2265.2001.01211.x","article-title":"A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene","volume":"54","author":"S\u00f6derlund","year":"2001","journal-title":"Clinical Endocrinology (Oxford)"},{"key":"10.1053\/beem.2002.0185_RF16","first-page":"1580","article-title":"Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism","volume":"86","author":"Beranova","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF17","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1016\/S0015-0282(01)01782-4","article-title":"Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals","volume":"75","author":"Layman","year":"2001","journal-title":"Fertility and Sterility"},{"key":"10.1053\/beem.2002.0185_RF18","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0188-4409(99)00072-7","article-title":"Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism","volume":"30","author":"Kottler","year":"1999","journal-title":"Archives of Medical Research"},{"key":"10.1053\/beem.2002.0185_RF19","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1016\/S0015-0282(01)01782-4","article-title":"Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals","volume":"75","author":"Layman","year":"2001","journal-title":"Fertility and Sterility"},{"key":"10.1053\/beem.2002.0185_RF20","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1210\/edrv.21.5.0409","article-title":"Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary\u2013gonadal function","volume":"21","author":"Themmen","year":"2000","journal-title":"Endocrine Reviews"},{"key":"10.1053\/beem.2002.0185_RF21","doi-asserted-by":"crossref","first-page":"10475","DOI":"10.1016\/S0021-9258(18)67406-X","article-title":"A single amino acid substitution in an ectopic alpha subunit of a human carcinoma choriogonadotropin","volume":"261","author":"Nishimura","year":"1986","journal-title":"Journal of Biological Chemistry"},{"key":"10.1053\/beem.2002.0185_RF22","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1056\/NEJM199201163260306","article-title":"Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone","volume":"326","author":"Weiss","year":"1992","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF23","first-page":"107","article-title":"Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants","volume":"78","author":"Furui","year":"1994","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF24","first-page":"65","article-title":"Genetic polymorphism found in the LH beta gene of an immunologically anomalous variant of human luteinizing hormone","volume":"130","author":"Pettersson","year":"1994","journal-title":"European Journal of Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF25","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1006\/bbrc.1994.1488","article-title":"Antigenic alteration on an anomalous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions","volume":"200","author":"Okuda","year":"1994","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"10.1053\/beem.2002.0185_RF26","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/S0015-0282(97)00445-7","article-title":"A new molecular variant of luteinizing hormone associated with female infertility","volume":"69","author":"Liao","year":"1998","journal-title":"Fertility and Sterility"},{"key":"10.1053\/beem.2002.0185_RF27","doi-asserted-by":"crossref","DOI":"10.1093\/molehr\/8.3.201","article-title":"A novel Ala\u22123Thr mutation in signal peptide of the human luteinizing hormone \u03b2-subunit: effects on signal transduction in vitro using recombinant preparation of the variant hormone","author":"Jiang","year":"2002","journal-title":"Human Molecular Reproduction"},{"key":"10.1053\/beem.2002.0185_RF28","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0993-83","article-title":"Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone","volume":"5","author":"Matthews","year":"1993","journal-title":"Nature Genetics"},{"key":"10.1053\/beem.2002.0185_RF29","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1056\/NEJM199806113382404","article-title":"Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone","volume":"338","author":"Phillip","year":"1998","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF30","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1056\/NEJM199708283370918","article-title":"Isolated deficiency of follicle-stimulating hormone re-revisited","volume":"337","author":"Matthews","year":"1997","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF31","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1056\/NEJM199708283370905","article-title":"Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene","volume":"337","author":"Layman","year":"1997","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF32","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1515\/CCLM.1998.118","article-title":"Follitropin(FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations","volume":"36","author":"Lindstedt","year":"1998","journal-title":"Clinical Chemistry and Laboratory Medicine"},{"key":"10.1053\/beem.2002.0185_RF33","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000022869","article-title":"New AccI polymorphism in the follicle-stimulating hormone beta-subunit gene and its prevalence in three Southeast Asian populations","volume":"49","author":"Liao","year":"1999","journal-title":"Human Heredity"},{"key":"10.1053\/beem.2002.0185_RF34","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1101\/gad.9.16.2007","article-title":"Targeted disruption of the pituitary glycoprotein hormone alpha-subunit produces hypogonadal and hypothyroid mice","volume":"9","author":"Kendall","year":"1995","journal-title":"Genes and Development"},{"key":"10.1053\/beem.2002.0185_RF35","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/1043-2760(90)90084-G","article-title":"Ontogeny of pituitary\u2013gonadal interactions; recent advances and controversies","volume":"1","author":"Huhtaniemi","year":"1990","journal-title":"Trends in Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF36","first-page":"164","article-title":"An immunologically anomalous luteinizing hormone variant in a healthy woman","volume":"74","author":"Pettersson","year":"1992","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0014-2999(01)00756-7","article-title":"A common genetic variant of luteinizing hormone; relation to normal and aberrant pituitary\u2013gonadal function","volume":"414","author":"Lamminen","year":"2001","journal-title":"European Journal of Pharmacology"},{"key":"10.1053\/beem.2002.0185_RF38","first-page":"3278","article-title":"The role of luteinizing hormone-beta gene polymorphism in the onset and progression of puberty in healthy boys","volume":"81","author":"Raivio","year":"1996","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF39","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1159\/000023525","article-title":"Activating and inactivating hormone receptor mutations","volume":"53","author":"Huhtaniemi","year":"2000","journal-title":"Hormone Research"},{"key":"10.1053\/beem.2002.0185_RF40","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1006\/geno.1993.1041","article-title":"The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-pl6 is similar to that of the luteinizing hormone receptor gene","volume":"15","author":"Rousseau-Merck","year":"1993","journal-title":"Genomics"},{"key":"10.1053\/beem.2002.0185_RF41","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1093\/hmg\/2.11.1779","article-title":"Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty","volume":"2","author":"Kremer","year":"1993","journal-title":"Human Molecular Genetics"},{"key":"10.1053\/beem.2002.0185_RF42","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/365652a0","article-title":"A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty","volume":"365","author":"Shenker","year":"1993","journal-title":"Nature"},{"key":"10.1053\/beem.2002.0185_RF43","series-title":"Proceedings of the American Endocrine Society, 82nd Annual Meeting","article-title":"Novel double mutation of the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism","author":"Pals-Rylaarsdam","year":"2001"},{"key":"10.1053\/beem.2002.0185_RF44","first-page":"4799","article-title":"Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix","volume":"85","author":"Latronico","year":"2000","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF45","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJM199602223340805","article-title":"Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone receptor gene","volume":"331","author":"Latronico","year":"1996","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beem.2002.0185_RF46","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng0295-160","article-title":"Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene","volume":"9","author":"Kremer","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1053\/beem.2002.0185_RF47","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1210\/mend.12.6.0124","article-title":"A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype","volume":"12","author":"Martens","year":"1998","journal-title":"Molecular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF48","first-page":"3850","article-title":"An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female","volume":"81","author":"Toledo","year":"1996","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF49","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1210\/mend.15.1.0582","article-title":"Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice","volume":"15","author":"Zhang","year":"2001","journal-title":"Molecular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF50","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1210\/mend.15.1.0586","article-title":"Targeted disruption of luteinizing hormone\/human chorionic gonadotropin receptor gene","volume":"15","author":"Lei","year":"2001","journal-title":"Molecular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF51","first-page":"1367","article-title":"An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man","volume":"81","author":"Gromoll","year":"1996","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF52","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1210\/mend.14.8.0503","article-title":"Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III","volume":"14","author":"Tao","year":"2000","journal-title":"Molecular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF53","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0015-0282(16)57786-3","article-title":"The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls","volume":"64","author":"Whitney","year":"1995","journal-title":"Fertility and Sterility"},{"key":"10.1053\/beem.2002.0185_RF54","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1046\/j.1365-2265.1999.00745.x","article-title":"Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome","volume":"51","author":"Conway","year":"1999","journal-title":"Clinical Endocrinology (Oxford)"},{"key":"10.1053\/beem.2002.0185_RF55","first-page":"2233","article-title":"Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors","volume":"84","author":"Ligtenberg","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF56","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0015-0282(99)00520-8","article-title":"Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries","volume":"73","author":"Batista","year":"2000","journal-title":"Fertility and Sterility"},{"key":"10.1053\/beem.2002.0185_RF57","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0140-6736(00)04164-7","article-title":"Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning","volume":"357","author":"Montgomery","year":"2001","journal-title":"Lancet"},{"key":"10.1053\/beem.2002.0185_RF58","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/0092-8674(95)90275-9","article-title":"Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure","volume":"82","author":"Aittom\u00e4ki","year":"1995","journal-title":"Cell"},{"key":"10.1053\/beem.2002.0185_RF59","doi-asserted-by":"crossref","unstructured":"Rannikko, A, Pakarinen, P, Manna, P, Functional Characterization of the human follicle-stimulating harmone receptor with inactivating Ala 189 Val mutation, Molecular Human Reproduction, 2002","DOI":"10.1093\/molehr\/8.4.311"},{"key":"10.1053\/beem.2002.0185_RF60","first-page":"3722","article-title":"Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene","volume":"81","author":"Aittom\u00e4ki","year":"1996","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1053\/beem.2002.0185_RF61","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1172\/JCI3795","article-title":"A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor","volume":"102","author":"Beau","year":"1998","journal-title":"Journal of Clinical Investigation"},{"key":"10.1053\/beem.2002.0185_RF62","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1210\/mend.13.11.0370","article-title":"New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype","volume":"13","author":"Touraine","year":"1999","journal-title":"Molecular Endocrinology"},{"key":"10.1053\/beem.2002.0185_RF63","doi-asserted-by":"crossref","unstructured":"Doherty, E, Pakarinen, P, Tiitinen, A, A novel mutation in the follicle-stimulating hormone receptor inhibiting signal transduction and resulting in primary ovarian failure, Journal of Clinical Endocrinology and Metabolism, 2002","DOI":"10.1210\/jcem.87.3.8319"},{"key":"10.1053\/beem.2002.0185_RF64","series-title":"Proceedings of the American Endocrine Society, 82nd Annual Meeting","article-title":"A novel loss of function mutation in exon 10 of the FSH-receptor gene causing hypergonadotropic hypogonadism: clinical and molecular characteristics","author":"Allen","year":"2000"},{"key":"10.1053\/beem.2002.0185_RF65","unstructured":"Vaskivuo, TE, Aittom\u00e4ki, K, Anttonen, M, The C566T mutation of FSH receptor gene results in a results in complete blockade of FSH action in vivo. Fertility and Sterility 2002;"},{"key":"10.1053\/beem.2002.0185_RF66","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/ng0297-205","article-title":"Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility","volume":"15","author":"Tapanainen","year":"1997","journal-title":"Nature Genetics"},{"key":"10.1053\/beem.2002.0185_RF67","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng0297-201","article-title":"Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility","volume":"15","author":"Kumar","year":"1997","journal-title":"Nature Genetics"},{"key":"10.1053\/beem.2002.0185_RF68","doi-asserted-by":"crossref","first-page":"13612","DOI":"10.1073\/pnas.95.23.13612","article-title":"Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance","volume":"95","author":"Dierich","year":"1998","journal-title":"Proceedings of the National Academy of Science of the USA"},{"key":"10.1053\/beem.2002.0185_RF69","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1210\/endo.141.5.7456","article-title":"The effect of a null mutation in the FSH receptor gene on mouse reproduction","volume":"141","author":"Abel","year":"2000","journal-title":"Endocrinology"}],"container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X02901855?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X02901855?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:33:29Z","timestamp":1761496409000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X02901855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3]]},"references-count":69,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,3]]}},"alternative-id":["S1521690X02901855"],"URL":"https:\/\/doi.org\/10.1053\/beem.2002.0185","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2002,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The role of mutations affecting gonadotrophin secretion and action in disorders of pubertal development","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/beem.2002.0185","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2002 Elsevier Science Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}