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Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?
We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was tr...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Society of Pediatric Endocrinology
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603610/ https://www.ncbi.nlm.nih.gov/pubmed/31261478 http://dx.doi.org/10.6065/apem.2019.24.2.129 |
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author | De Rose, Domenico Umberto Perri, Alessandro Gallini, Francesca Priolo, Francesca Tiberi, Eloisa Vento, Giovanni Zecca, Enrico |
author_facet | De Rose, Domenico Umberto Perri, Alessandro Gallini, Francesca Priolo, Francesca Tiberi, Eloisa Vento, Giovanni Zecca, Enrico |
author_sort | De Rose, Domenico Umberto |
collection | PubMed |
description | We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. We suggest that transient pseudohypoparathyroidism of the newborn (ntPHP) might be included among inactivating parathyroid hormone (PTH)/PTH-related protein signaling disorders as defined by the classification schema recently proposed by the European Pseudohypoparathyroidism Network. To the best of our knowledge, this is the first report in which the new classification has been applied to a case of ntPHP. |
format | Online Article Text |
id | pubmed-6603610 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Korean Society of Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-66036102019-07-10 Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? De Rose, Domenico Umberto Perri, Alessandro Gallini, Francesca Priolo, Francesca Tiberi, Eloisa Vento, Giovanni Zecca, Enrico Ann Pediatr Endocrinol Metab Case Report We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. We suggest that transient pseudohypoparathyroidism of the newborn (ntPHP) might be included among inactivating parathyroid hormone (PTH)/PTH-related protein signaling disorders as defined by the classification schema recently proposed by the European Pseudohypoparathyroidism Network. To the best of our knowledge, this is the first report in which the new classification has been applied to a case of ntPHP. Korean Society of Pediatric Endocrinology 2019-06 2019-06-30 /pmc/articles/PMC6603610/ /pubmed/31261478 http://dx.doi.org/10.6065/apem.2019.24.2.129 Text en © 2019 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report De Rose, Domenico Umberto Perri, Alessandro Gallini, Francesca Priolo, Francesca Tiberi, Eloisa Vento, Giovanni Zecca, Enrico Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title | Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title_full | Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title_fullStr | Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title_full_unstemmed | Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title_short | Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? |
title_sort | neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (pth)/pth-related protein signalling disorders? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603610/ https://www.ncbi.nlm.nih.gov/pubmed/31261478 http://dx.doi.org/10.6065/apem.2019.24.2.129 |
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