{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:46Z","timestamp":1753883566794,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T00:00:00Z","timestamp":1689292800000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1\u03b1-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-old female Mexican patient with growth retardation and progressive bone deformity, whose laboratory studies showed 25-OH vitamin D deficiency, a normal serum calcium and an elevated intact parathyroid hormone level that remained high despite calcitriol, cholecalciferol, and calcium supplementation. 99mTc sestamibi gammagram showed findings suggestive of parathyroid hyperplasia. Bone histomorphometry showed an image consistent with hyperparathyroidism without findings of osteomalacia, so normocalcemic primary hyperparathyroidism was suspected and a subtotal parathyroidectomy was performed, with the patient developing postoperative hypoparathyroidism. When she arrived at our clinic at age 18 years, she showed calcium- and calcitriol-dependent hypocalcemia, with secondary hyperparathyroidism and low levels of 1,25(OH)2 vitamin D in the absence of a 25-OH vitamin D deficiency, reflecting a defect in 1\u03b1-hydroxylation. Molecular testing revealed compound heterozygous variants in CYP27B1 gene. This is the first reported case of an inherited disorder of vitamin D metabolism that was diagnosed and surgically treated as primary hyperparathyroidism.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad084","type":"journal-article","created":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T05:35:22Z","timestamp":1689312922000},"source":"Crossref","is-referenced-by-count":1,"title":["Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2189-6523","authenticated-orcid":false,"given":"Pamela","family":"Rivero-Garc\u00eda","sequence":"first","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n . Vasco de Quiroga 15, Belisario Dom\u00ednguez, Secci\u00f3n XVI, Delegaci\u00f3n Tlalpan, 14080 Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4890-4503","authenticated-orcid":false,"given":"Juan Jos\u00e9","family":"Aguilar-Lugo-Gerez","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n . Vasco de Quiroga 15, Belisario Dom\u00ednguez, Secci\u00f3n XVI, Delegaci\u00f3n Tlalpan, 14080 Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1107-0771","authenticated-orcid":false,"given":"Tamara N","family":"Kimball","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n . Vasco de Quiroga 15, Belisario Dom\u00ednguez, Secci\u00f3n XVI, Delegaci\u00f3n Tlalpan, 14080 Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3732-8726","authenticated-orcid":false,"given":"Alfredo Adolfo","family":"Reza-Albarr\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n . Vasco de Quiroga 15, Belisario Dom\u00ednguez, Secci\u00f3n XVI, Delegaci\u00f3n Tlalpan, 14080 Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"issue":"27","key":"2023071405144031700_luad084-B1","doi-asserted-by":"crossref","first-page":"9637","DOI":"10.1073\/pnas.0502249102","article-title":"Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes","volume":"102","author":"Sabbagh","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"2023071405144031700_luad084-B2","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1007\/s00223-020-00784-2","article-title":"Does genotype-phenotype correlation exist in vitamin-D-dependent rickets type IA: report of 13 new cases and review of the literature","volume":"108","author":"Kaygusuz","year":"2021","journal-title":"Calcif Tissue Int"},{"issue":"3","key":"2023071405144031700_luad084-B3","doi-asserted-by":"crossref","first-page":"178","DOI":"10.5114\/pedm.2022.118315","article-title":"The spectrum of manifestations of primary hyperparathyroidism in children and adolescents","volume":"28","author":"Boro","year":"2022","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"issue":"4","key":"2023071405144031700_luad084-B4","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.bone.2007.10.006","article-title":"Ectopic thymic parathyroid adenoma and vitamin-D deficiency rickets: a 5-year-follow-up case report and review of literature","volume":"42","author":"Pitukcheewanont","year":"2008","journal-title":"Bone"},{"issue":"2","key":"2023071405144031700_luad084-B5","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ando.2015.03.022","article-title":"Primary hyperparathyroidism and vitamin-D deficiency","volume":"76","author":"V\u00e9layoudom-C\u00e9phise","year":"2015","journal-title":"Ann Endocrinol (Paris)"},{"issue":"6","key":"2023071405144031700_luad084-B6","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/0002-9343(74)90812-2","article-title":"Parathyroid function in human vitamin-D deficiency and vitamin-D deficiency in primary hyperparathyroidism","volume":"56","author":"Lumb","year":"1974","journal-title":"Am J Med"},{"issue":"1","key":"2023071405144031700_luad084-B7","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1210\/jc.2010-1340","article-title":"Short- and long-term outcome of patients with pseudo-vitamin-D deficiency rickets treated with calcitriol","volume":"96","author":"Edouard","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2023071405144031700_luad084-B8","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s00784-017-2149-4","article-title":"Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia","volume":"22","author":"Gj\u00f8rup","year":"2018","journal-title":"Clin Oral Investig"},{"key":"2023071405144031700_luad084-B9","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.887371","article-title":"Benefits of newborn screening for vitamin-D-dependant rickets type 1A in a founder population","volume":"13","author":"Fortin","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"4","key":"2023071405144031700_luad084-B10","doi-asserted-by":"crossref","first-page":"266","DOI":"10.4274\/Jcrpe.1060","article-title":"Primary hyperparathyroidism masquerading as rickets: diagnostic challenge and treatment outcomes","volume":"5","author":"Dutta","year":"2013","journal-title":"J Clin Res Pediatr Endocrinol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad084\/50880567\/luad084.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad084\/50880567\/luad084.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T05:35:33Z","timestamp":1689312933000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad084\/7224021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,1]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad084","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,7]]},"published":{"date-parts":[[2023,7,1]]},"article-number":"luad084"}}