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dc.contributor.author | Marín Díez, José Fernando | |
dc.contributor.author | Jódar Gimeno, José Esteban | |
dc.contributor.author | Sánchez del Pozo, Jaime | |
dc.date.accessioned | 2022-06-23T17:24:49Z | |
dc.date.available | 2022-06-23T17:24:49Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Marín, F., Jódar, E., & Sánchez del Pozo, J. (2020). Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report. Journal of Pediatric Endocrinology & Metabolism: JPEM, 34(4), 531–534. https://doi.org/10.1515/jpem-2020-0419 | spa |
dc.identifier.issn | 0334-018X | |
dc.identifier.issn | 2191-0251 | |
dc.identifier.uri | http://hdl.handle.net/11268/11376 | |
dc.description.abstract | We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto’s thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Replacement therapy with levothyroxine, calcium and alphacalcidol was initiated. The diagnosis of pseudohypoparathyroidism 1B was confirmed at the age of 17.5 years with the demonstration of methylation alteration at the GNAS locus. At the age of 16 years, 3.5 years after her menarche, she presented clear features of LWD. A large deletion of the SHOX gene was confirmed. Family genetic tests were not doable since she was adopted. We discuss the diagnostic challenges of these coexisting rare endocrinopathies. | spa |
dc.description.sponsorship | Sin financiación | spa |
dc.language.iso | eng | spa |
dc.subject.other | Proteína de la caja homeótica de baja estatura | spa |
dc.subject.other | Tiroiditis autoinmune | spa |
dc.subject.other | Enfermedad de Hashimoto | spa |
dc.title | Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report | spa |
dc.type | article | spa |
dc.description.impact | 1.520 JCR (2021) Q4, 109/130 Pediatrics | spa |
dc.description.impact | 0.411 SJR (2021) Q2, 149/320 Pediatrics, Perinatology and Child Health | spa |
dc.description.impact | No data IDR 2021 | spa |
dc.identifier.doi | 10.1515/jpem-2020-0419 | |
dc.rights.accessRights | closedAccess | spa |
dc.subject.unesco | Genética humana | spa |
dc.subject.unesco | Bioquímica | spa |
dc.subject.unesco | Enfermedad | spa |
dc.description.filiation | UEM | spa |
dc.peerreviewed | Si | spa |
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