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<jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>The Reproductive Endocrine Unit and the Pediatric Endocrinology Division, Massachusetts General Hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients or other participants<\/jats:title>\n                    <jats:p>A cohort of 1810 unrelated IHH probands.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions<\/jats:title>\n                    <jats:p>Exome sequencing data from the entire cohort were examined for SOX11 rare single nucleotide variants (SNVs) (minor allele frequency in the gnomAD database &amp;lt;0.1%). Rare SOX11 variant association testing was performed between the IHH and gnomAD population. Phenotyping of individuals harboring pathogenic\/likely pathogenic SNVs (determined by the American College of Medical Genetics criteria) was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcomes\/Results<\/jats:title>\n                    <jats:p>Four pathogenic SOX11 SNVs were identified in 5 IHH probands. The IHH cohort was enriched for SOX11 protein truncating SNVs (frameshift\/nonsense) across the entire protein (2 SNVs in 3 IHH cases [p.S303X (de novo); p.S345Afs*13]; P = .0004981) and for SOX11 missense SNVs within the SOX11 high-mobility group domain (2 SNVs in 2 IHH cases p.G84D [de novo]; p.P114S; P = .00313922). The phenotypic spectrum of SOX11 variant carriers revealed additional endocrine defects including anosmic and normosmic forms of IHH, GH deficiency, pituitary and hypothalamic structural defects, and hypothyroidism. A pathogenic SOX11 SNV was also identified in a patient with functional hypogonadotropic hypogonadism (p.R100Q). Coffin-Siris syndrome-associated features were present in 4\/5 probands.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Deleterious SOX11 variants cause IHH and other pituitary hormone deficiencies, suggesting that the human SOX11-associated disorder may stem from both hypothalamic and pituitary level defects.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgae620","type":"journal-article","created":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T03:42:03Z","timestamp":1726285323000},"page":"1044-1052","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the Spectrum of Endocrine Abnormalities Associated With\n                    <i>SOX11<\/i>\n                    -related Disorders"],"prefix":"10.1210","volume":"110","author":[{"given":"Bang","family":"Sun","sequence":"first","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I","family":"Stamou","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara L","family":"Stockman","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark B","family":"Campbell","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lacey","family":"Plummer","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn B","family":"Salnikov","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Endocrine Division, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leman Damla","family":"Kotan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University , Adana, 01250 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Kemal","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Massachusetts General Hospital and Harvard Medical School , Boston, MA 02113 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuki M","family":"Hisama","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine , Seattle, WA 98195 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica E","family":"Davis","sequence":"additional","affiliation":[{"name":"Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. 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