{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:31:13Z","timestamp":1777725073052,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2008,5]]},"abstract":"<jats:p>A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized. Physical examination and laboratory parameters revealed a diagnosis of hypergonadotrophic hypogonadism. To the authors' knowledge, this is the first case of achondroplasia with gonadal dysgenesis discussed in the literature.<\/jats:p>","DOI":"10.1177\/147323000803600329","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T14:22:43Z","timestamp":1361974963000},"page":"605-608","source":"Crossref","is-referenced-by-count":7,"title":["Achondroplasia Associated with Gonadal Dysgenesis"],"prefix":"10.1177","volume":"36","author":[{"given":"C","family":"Gokce","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Kayseri Training and Research Hospital, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ME","family":"Atabek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Erciyes University Medical Faculty, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Kaynar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erciyes University Medical Faculty, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Torun","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erciyes University Medical Faculty, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Kurtoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Erciyes University Medical Faculty, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Bayram","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Erciyes University Medical Faculty, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2008,5,1]]},"reference":[{"key":"bibr1-147323000803600329","volume-title":"Endocrinology and Metabolism","author":"MacGillivray MH","year":"2001"},{"key":"bibr2-147323000803600329","volume-title":"Williams Textbook of Endocrinology","author":"Reiter OR","year":"1998"},{"key":"bibr3-147323000803600329","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10092"},{"key":"bibr4-147323000803600329","first-page":"694","volume":"39","author":"Vijayalakshmi AM","year":"2002","journal-title":"Indian J Pediatr"},{"key":"bibr5-147323000803600329","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1399-0004.1994.tb04027.x","volume":"45","author":"Sayli BS","year":"1994","journal-title":"Clin Genet"},{"key":"bibr6-147323000803600329","first-page":"143","volume":"40","author":"Sanchez O","year":"1999","journal-title":"Invest Clin"},{"key":"bibr7-147323000803600329","first-page":"785","volume-title":"Williams Textbook of Endocrinology","author":"Carr BR","year":"1998"},{"key":"bibr8-147323000803600329","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010115)98:2<121::AID-AJMG1019>3.0.CO;2-4"},{"key":"bibr9-147323000803600329","volume-title":"Williams Textbook of Endocrinology","author":"Grumbach MM","year":"1998"},{"key":"bibr10-147323000803600329","volume-title":"Endocrinology and Metabolism","author":"Burger GB","year":"2001"},{"key":"bibr11-147323000803600329","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040306"},{"key":"bibr12-147323000803600329","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/147323000803600329","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/147323000803600329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:41:30Z","timestamp":1777459290000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/147323000803600329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,5]]}},"alternative-id":["10.1177\/147323000803600329"],"URL":"https:\/\/doi.org\/10.1177\/147323000803600329","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5]]}}}