{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:53:32Z","timestamp":1790787212499,"version":"4.1.0"},"reference-count":17,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>The rare hypoparathyroidism\u2014retardation\u2014dysmorphism (HRD) syndrome (OMIM #241410) is caused by the mutated tubulin chaperone E (TBCE) gene. This gene encodes a critical protein in the microtubule assembly pathway.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To evaluate the endocrine profile of patients with HRD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The study used a retrospective analysis of a large cohort of patients in a single university medical center. Sixty-three patients were diagnosed with HRD during 1990 to 2019; 58 of them had an endocrine evaluation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main outcome measures<\/jats:title>\n                  <jats:p>We investigated somatic growth parameters, the prevalence of hypoglycemia, growth hormone deficiency, hypothyroidism, hypogonadism, and cortisol deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All patients were born small for gestational age, and severe growth retardation was found in all patients with mean height standard deviation score (SDS) of \u20138.8 (range: \u20135.1 to \u201315.1) and weight SDS \u201318 (range: \u20135.1 to \u201361.2). Serum insulin-like growth factor-1 concentrations were very low among the 21 studied patients: \u20132.32 SDS (range: \u20130.6 to \u20132.7). Four out of 14 (28%) investigated patients had growth hormone deficiency, and 55% of patients were hospitalized due to symptomatic hypoglycemia. Adrenal glucocorticoid insufficiency was diagnosed in 22% of those tested. Hypothyroidism was found in 36% of patients. Both hypogonadotrophic and hypergonadotrophic hypogonadism were observed. The main magnetic resonance imaging findings were small anterior pituitary gland, small hippocampus, brain atrophy, thin corpus callosum, Chiari type I malformation, and septo-optic dysplasia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Multiple endocrine abnormalities are common in patients with HRD syndrome. Periodic screening of thyroid and adrenal functions is recommended.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa807","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T03:53:24Z","timestamp":1604548404000},"page":"e907-e916","source":"Crossref","is-referenced-by-count":11,"title":["Multiple Endocrine Deficiencies are Common in Hypoparathyroidism\u2013Retardation\u2013Dysmorphism Syndrome"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-6908","authenticated-orcid":false,"given":"Odeya","family":"David","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Unit, Soroka University Medical Center, Beer Sheva, Israel"},{"name":"Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galia","family":"Barash","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, 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