{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:53:50Z","timestamp":1791219230000,"version":"4.1.0"},"reference-count":21,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2017]]},"abstract":"<b><i>Background:<\/i><\/b> Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to <i>TG<\/i> mutation in the same non-consanguineous family is rare. <b><i>Case Series:<\/i><\/b> We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N <i>CYP21A2<\/i> mutations. Sibling 1 had salt-wasting CAH (<i>CYP21A2<\/i> genotype Intron 2 splice\/p.I172N and p.V281L)<i>.<\/i> She also had CH (<i>TG<\/i> genotype p.R296\/ p.T1416Rfs*30) and learning difficulties. Poor compliance and morbid obesity resulted in short stature, precocious puberty, hirsutism, amenorrhoea, insulin insensitivity and a possible adrenal adenoma. Sibling 3 (<i>CYP21A2<\/i> and <i>TG<\/i> genotype similar to sibling 1) is a boy presenting with salt-wasting CAH, CH, and developmental delay. He was overweight and underwent precocious puberty. Although siblings 2 and 4 (both females) share the same <i>CYP21A2<\/i> genotype (Intron 2 splice\/p.V281L), the former only had biochemical evidence of CAH, while the latter presented at 9.8 years of age with a history of pubarche at 7 years and advanced bone age. <b><i>Conclusions:<\/i><\/b> We report the unusual occurrence of 2 rare autosomal recessive diseases, CAH and CH. Our cases highlight the phenotypic variability of CAH and CH due to <i>TG<\/i> mutations, even within a single family, and illustrate the importance of optimal disease control.<\/jats:p>","DOI":"10.1159\/000465521","type":"journal-article","created":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T21:01:31Z","timestamp":1492635691000},"page":"172-178","source":"Crossref","is-referenced-by-count":3,"title":["Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family"],"prefix":"10.1159","volume":"88","author":[{"given":"Nicola","family":"Improda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Ponmani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Schoenmakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Atterbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Barnicoat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna","family":"Chatterjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul\u00a0T.","family":"Dattani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,3,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1300057110"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1202"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198807073190104"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12543"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0019"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-136-4-200202190-00012"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.4.933"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1995.tb02034.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1367.005"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2003.16.9.1311"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.74.3.1311000"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04151.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01299.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3343"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1994.tb02575.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1929"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.7.2537"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1172\/JCI35164"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000324882"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90209-Y"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/er.14.2.165"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465521","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465521","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465521","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:34:10Z","timestamp":1745429650000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000465521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":21,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,9,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000465521","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}