TY - JOUR
T1 - Neonatal transient pseudohypoparathyroidism: Could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?
AU - De Rose, Domenico Umberto
AU - Perri, Alessandro
AU - Gallini, Francesca
AU - Priolo, Francesca
AU - Tiberi, Eloisa
AU - Vento, Giovanni
AU - Zecca, Enrico
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Hypocalcemic seizures
KW - Inactivating PTH/PTH-related protein signaling disorder
KW - Newborn
KW - Personalized medicine
KW - Pseudohypoparathyroidism
KW - Hypocalcemic seizures
KW - Inactivating PTH/PTH-related protein signaling disorder
KW - Newborn
KW - Personalized medicine
KW - Pseudohypoparathyroidism
UR - http://hdl.handle.net/10807/147539
UR - http://e-apem.org/upload/pdf/apem-2019-24-2-129.pdf
U2 - 10.6065/apem.2019.24.2.129
DO - 10.6065/apem.2019.24.2.129
M3 - Article
SN - 2287-1012
VL - 24
SP - 129
EP - 132
JO - ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
JF - ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
ER -