Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?
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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.
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.
참고문헌 (15)
- Mantovani G, "Clinical review: pseudohypoparathyroidism:diagnosis and treatment", J Clin Endocrinol Metab, 96, pp.3020~3030 (2011)
- Albright F, "Pseudo-hypoparathyroidism: an example of "Seabright-Bantam sindrome"", Endocrinology, 30, pp.922~932 (1942)
- Bertino E, "Neonatal anthropometric charts: the Italian neonatal study compared with other European studies", J Pediatr Gastroenterol Nutr, 51, pp.353~361 (2010)
- Mantovani G, "Mutations in the Gs alpha gene causing hormone resistance", Best Pract Res Clin Endocrinol Metab, 20, pp.501~513 (2006)
- Bastepe M, "The GNAS locus and pseudohypoparathyro-idism", Adv Exp Med Biol, 626, pp.27~40 (2008)
- Turan S, "Current nomenclature of pseudohypoparathy-roidism: inactivating parathyroid hormone", parathyroid hormone-related protein signaling disorder, 2017, pp.9(Suppl 2), 58~68
- Thiele S, "From pseudohypoparathyroidism to inactivating PTH", PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network, 2016, pp.175, P1~P17
- Minagawa M, "Transient pseudohypoparathyroidism of the neonate", Eur J Endocri-nol, 133, pp.151~155 (1995)
- Manzar S, "Transient pseudohypoparathyroidism and neonatal seizure", J Trop Pediatr, 47, pp.113~114 (2001)
- Sajitha S, "Psedohypopara-thyroidism in newborn - a rare presentation", Indian Pediatr, 40, pp.47~49 (2003)
- Narang M, "Neonatal pseudohypopara-thyroidism", Indian J Pediatr, 73, pp.97~98 (2006)
- Koklu E, "Natal teeth and neonatal transient pseudohypoparathyroidism in a newborn", J Pediatr Endocrinol Metab, 20, pp.971~ (2007)
- Lee CT, "Transient pseudohypo-parathyroidism as a cause of late-onset hypocalcemia in neonates and infants", J Formos Med Assoc, 107, pp.806~810 (2008)
- Patra S, "Case series of neonatal hypocalcemia due to pseudohypoparathyroidism", J Pediatr Endocrinol Metab, 23, pp.1073~1075 (2010)
- Ergin H, "Calcinosis cutis in a newborn with transient pseudohypo-parathyroidism", Indian J Pediatr, 78, pp.1424~1426 (2011)