{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:25Z","timestamp":1784293645830,"version":"3.55.0"},"reference-count":15,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T00:00:00Z","timestamp":1744675200000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cant\u00fa syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C &amp;gt; T;p. (Arg1154Trp)) causing Cant\u00fa syndrome.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf068","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T09:34:21Z","timestamp":1744709661000},"source":"Crossref","is-referenced-by-count":1,"title":["Cant\u00fa Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2426-7204","authenticated-orcid":false,"given":"David","family":"Nygren","sequence":"first","affiliation":[{"name":"Division of Infection Medicine, Lund University , S-221 85 Lund ,","place":["Sweden"]},{"name":"Department of Infectious Diseases, Sk\u00e5ne University Hospital , S221 85 Lund ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7038-9475","authenticated-orcid":false,"given":"Ulrika","family":"Moll","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Sk\u00e5ne University Hospital , S-221 85 Lund ,","place":["Sweden"]},{"name":"Institution of Clinical Sciences, Lund University , S-223 62 Lund ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Braun","sequence":"additional","affiliation":[{"name":"Institution of Clinical Sciences, Lund University , S-223 62 Lund ,","place":["Sweden"]},{"name":"Department of Cardiology, Sk\u00e5ne University Hospital , S-221 85 Lund ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Karlsson","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases, Sk\u00e5ne University Hospital , S221 85 Lund ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"J\u00f6nsson","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases, Sk\u00e5ne University Hospital , S221 85 Lund ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"issue":"1","key":"2025041509340840100_luaf068-B1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/BF00281261","article-title":"A distinct osteochondrodysplasia with hypertrichosis\u2014individualization of a probable autosomal recessive entity","volume":"60","author":"Cant\u00f9","year":"1982","journal-title":"Hum Genet"},{"issue":"4","key":"2025041509340840100_luaf068-B2","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/ajmg.c.31753","article-title":"Cant\u00fa syndrome: findings from 74 patients in the international Cant\u00fa syndrome registry","volume":"181","author":"Grange","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"7","key":"2025041509340840100_luaf068-B3","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ng.2324","article-title":"Dominant missense 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