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.

De Rose, D. U., Perri, A., Gallini, F., Priolo, F., Tiberi, E., Vento, G., Zecca, E., Neonatal transient pseudohypoparathyroidism: Could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?, <<ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM>>, 2019; 24 (2): 129-132. [doi:10.6065/apem.2019.24.2.129] [http://hdl.handle.net/10807/147539]

Neonatal transient pseudohypoparathyroidism: Could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

De Rose, Domenico Umberto
Primo
;
Gallini, Francesca;Tiberi, Eloisa;Vento, Giovanni
Penultimo
;
Zecca, Enrico
Ultimo
2019

Abstract

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.
2019
AREA06 - SCIENZE MEDICHE
Pubblicazione su rivista con Impact Factor
Inglese
Articolo in rivista
Inglese
Hypocalcemic seizures; Inactivating PTH/PTH-related protein signaling disorder; Newborn; Personalized medicine; Pseudohypoparathyroidism; Pseudohypoparathyroidism
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
Korean society of pediatric endocrinology
24
2
2019
Epub
129
132
4
Esperti anonimi
Articolo su rivista scientifica / specializzata
info:eu-repo/semantics/article
De Rose, D. U., Perri, A., Gallini, F., Priolo, F., Tiberi, E., Vento, G., Zecca, E., Neonatal transient pseudohypoparathyroidism: Could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?, <<ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM>>, 2019; 24 (2): 129-132. [doi:10.6065/apem.2019.24.2.129] [http://hdl.handle.net/10807/147539]
open
262
De Rose, Domenico Umberto; Perri, A.; Gallini, Francesca; Priolo, F.; Tiberi, Eloisa; Vento, Giovanni; Zecca, Enrico
7
art_per_29
03. Contributo in rivista::Articolo in rivista, Nota a sentenza
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/147539
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