{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:25:40Z","timestamp":1790267140130,"version":"4.1.0"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Myhre syndrome is a rare disorder caused by a heterozygous mutation in the <jats:italic>SMAD4<\/jats:italic> gene. Affected patients may exhibit dysmorphic facial features, intrauterine growth retardation, short stature, obesity, muscle hypertrophy, thickened skin, limited joint movement, hearing impairment, and varying degrees of psychomotor developmental disorder. Serious complications of the cardiovascular and respiratory system may be seen later in life. We report the case of a Chinese boy with Myhre syndrome presenting with a novel symptom of giant testicles where treatment with growth hormone combined with letrozole successfully improved his short stature. This case shows that letrozole combined with growth hormone can improve height in children with Myhre syndrome without adverse effects.<\/jats:p>","DOI":"10.3389\/fped.2021.675934","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T10:24:36Z","timestamp":1627554276000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole"],"prefix":"10.3389","volume":"9","author":[{"given":"Hui","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunpu","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/ng.1016","article-title":"Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome","volume":"44","author":"Le Goff","year":"2012","journal-title":"Nat Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1399-0004.1981.tb01798.x","article-title":"A new growth deficiency syndrome","volume":"20","author":"Myhre","year":"1981","journal-title":"Clin Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1097\/MCD.0000000000000068","article-title":"Myhre syndrome with facial paralysis and branch pulmonary stenosis","volume":"24","author":"Hawkes","year":"2015","journal-title":"Clin Dysmorphol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1982","DOI":"10.1002\/ajmg.a.35440","article-title":"First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation","volume":"158","author":"Asakura","year":"2012","journal-title":"Am J Med Genet A."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.1038\/ejhg.2013.288","article-title":"Myhre and LAPS syndromes: clinical and molecular review of 32 patients","volume":"22","author":"Michot","year":"2014","journal-title":"Eur J Hum Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"2893","DOI":"10.1002\/ajmg.a.37273","article-title":"Myhre syndrome: clinical features and restrictive cardiopulmonary complications","volume":"167","author":"Starr","year":"2015","journal-title":"Am J Med Genet A."},{"key":"B7","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1111\/cge.12365","article-title":"Myhre syndrome","volume":"85","author":"Le Goff","year":"2014","journal-title":"Clin Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1536","DOI":"10.1002\/jbmr.56","article-title":"Vertebral morphology in aromatase inhibitor treated males with idiopathic short stature or constitutional delay of puberty","volume":"25","author":"Hero","year":"2010","journal-title":"J Bone Miner Res"},{"key":"B9","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/1477-7827-9-93","article-title":"Aromatase inhibitors in men: effects and therapeutic options","volume":"9","author":"de Ronde","year":"2011","journal-title":"Reprod Biol Endocrinol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1136\/jmg.40.7.546","article-title":"Myhre syndrome: new reports, review, and differential diagnosis","volume":"40","author":"Burglen","year":"2003","journal-title":"J Med Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.675934\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T10:24:37Z","timestamp":1627554277000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.675934\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,29]]},"references-count":10,"alternative-id":["10.3389\/fped.2021.675934"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.675934","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,29]]},"article-number":"675934"}}