{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:08Z","timestamp":1784557028524,"version":"3.55.0"},"reference-count":15,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,8,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Prader\u2013Willi syndrome (PWS) is a genetic imprinting disorder that is characterized by obesity, short stature, and hypogonadism. Hypogonadism is characterized by normal luteinizing hormone (LH), high follicle-stimulating hormone (FSH), low testosterone, low inhibin B, and relatively low anti-M\u00fcllerian hormone (AMH). Only a few cases of central precocious puberty (CPP) have been reported in PWS, and follow-up for CPP with PWS is not established. Hence, we present a boy with PWS accompanied by CPP. Gonadotropin-releasing hormone analog (GnRHa) therapy was started at 7 years of age, CPP was adequately arrested, and GnRHa therapy was discontinued at 11.3 years of age. Growth hormone (GH) therapy was started at 12 years of age due to inadequate growth. He grew close to his final height, and his testes developed with normal LH, increased FSH, normal testosterone, and reduced AMH corresponding to puberty at 13.5 years of age. The features of 16 patients with PWS with CPP, including our patient, were summarized. Out of seven male patients, five were treated with GnRHa, as well as four out of nine female patients. Out of 16 patients, 6 were assessed with pubertal development over 13 years of age. Pubertal development was considered to be restored in four patients who had GnRHa therapy discontinuation. We should carefully follow-up on pubertal development in CPP. GnRHa therapy is useful for adequate puberty blockage, and pubertal development could be restored with GnRHa therapy discontinuation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Pubertal development in Prader\u2013Willi syndrome (PWS) varies from hypogonadism to precocious puberty.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Pubertal development assessment based on clinical features and hormone levels is needed in central precocious puberty (CPP) treatment with PWS.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Gonadotropin-releasing hormone analog (GnRHa) therapy is useful for CPP with PWS, and pubertal development can be restored with GnRHa therapy discontinuation.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-22-0244","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T06:22:46Z","timestamp":1661494966000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Idiopathic central precocious puberty with Prader\u2013Willi syndrome: pubertal development with discontinuation of gonadotropin-releasing hormone analog"],"prefix":"10.1530","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8544-4326","authenticated-orcid":true,"given":"Mami","family":"Kobayashi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan"},{"name":"Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4981-1715","authenticated-orcid":true,"given":"Hideaki","family":"Yagasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Tamaru","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Mitsui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Inukai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Clinical Endocrinology and Metabolism","doi-asserted-by":"publisher","first-page":"2262","DOI":"10.1210\/jc.2008-2760","article-title":"Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome","volume":"94","author":"Hirsch","year":"2009","unstructured":"Hirsch HJEldar-Geva TBenarrcoch FRubinstein OGross-Tsur V. Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism2009942262\u20132268. (https:\/\/doi.org\/10.1210\/jc.2008-2760)10.1210\/jc.2008-2760"},{"key":"bib2","series-title":"New England Journal of Medicine","doi-asserted-by":"publisher","first-page":"2467","DOI":"10.1056\/NEJMoa1302160","article-title":"Central precocious puberty caused by mutations in the imprinted gene MKRN3","volume":"368","author":"Abreu","year":"2013","unstructured":"Abreu APDauber AMacedo DBNoel SDBrito VNGill JCCukier PThompson IRNavarro VMGagliardi PCCentral precocious puberty caused by mutations in the imprinted gene MKRN3. New England Journal of Medicine20133682467\u20132475. 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Syndrome of growth resistance, obesity, and intellectual impairment with precocious puberty. Archives of Disease in Childhood197247119\u2013121. (https:\/\/doi.org\/10.1136\/adc.47.251.119)10.1136\/adc.47.251.119"},{"key":"bib5","series-title":"Acta Paediatrica Scandinavica","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1111\/j.1651-2227.1978.tb16258.x","article-title":"Pubertal development in the Prader-Willi syndrome","volume":"67","author":"Kauli","year":"1978","unstructured":"Kauli RPrager-Lewin RLaron Z. Pubertal development in the Prader-Willi syndrome. Acta Paediatrica Scandinavica197867763\u2013767. (https:\/\/doi.org\/10.1111\/j.1651-2227.1978.tb16258.x)10.1111\/j.1651-2227.1978.tb16258.x"},{"key":"bib6","series-title":"Helvetica Paediatrica Acta","first-page":"373","article-title":"Precocious puberty in a male with Prader-Willi syndrome","volume":"39","author":"Vanelli","year":"1984","unstructured":"Vanelli MBernasconi SCaronna NVirdis RTerzi CGiovannelli G. 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(https:\/\/doi.org\/10.1080\/080352599750030482)10.1111\/j.1651-2227.1999.tb01037.x"},{"key":"bib8","series-title":"Hormone Research","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1159\/000053184","article-title":"Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children","volume":"53","author":"Tauber","year":"2000","unstructured":"Tauber MBarbeau CJouret BPienkowski CMalzac PMoncla ARochiccioli P. Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Hormone Research200053279\u2013287. (https:\/\/doi.org\/10.1159\/000053184)10.1159\/000053184"},{"key":"bib9","series-title":"European Journal of Pediatrics","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s00431-002-1132-4","article-title":"Hypogonadism and pubertal development in Prader-Willi syndrome","volume":"162","author":"Crino","year":"2003","unstructured":"Crino ASchiaffini RCiampalini PSpera SBeccaria LBenzi FBosio LCorrias AGargantini LSalvatoni AHypogonadism and pubertal development in Prader-Willi syndrome. European Journal of Pediatrics2003162327\u2013333. 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Treatment of precocious puberty in a female with Prader-Willi syndrome. Journal of Pediatric Endocrinology and Metabolism200821495\u2013500. (https:\/\/doi.org\/10.1515\/JPEM.2008.21.5.495)"},{"key":"bib12","series-title":"Journal of Pediatric Endocrinology and Metabolism","first-page":"1201","article-title":"Central precocious puberty in a girl with Prader-Willi syndrome","volume":"26","author":"Lee","year":"2013","unstructured":"Lee HSHwang JS. Central precocious puberty in a girl with Prader-Willi syndrome. Journal of Pediatric Endocrinology and Metabolism2013261201\u20131204. 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