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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...

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Autores principales: De Rose, Domenico Umberto, Perri, Alessandro, Gallini, Francesca, Priolo, Francesca, Tiberi, Eloisa, Vento, Giovanni, Zecca, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2019
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.
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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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