Ann Pediatr Endocrinol Metab.  2019 Jun;24(2):129-132. 10.6065/apem.2019.24.2.129.

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

• De Rose DU
• Perri A
• Gallini F
• Priolo F
• Tiberi E
• Vento G
• Zecca E

• KMID: 2452090
• DOI: http://doi.org/10.6065/apem.2019.24.2.129

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.

Keyword

Pseudohypoparathyroidism; Pseudohypoparathyroidism; Hypocalcemic seizures; Newborn; Inactivating PTH/PTH-related protein signaling disorder; Personalized medicine

MeSH Terms

Calcium
Classification
Diagnosis
Follow-Up Studies
Humans
Hyperphosphatemia
Infant
Infant, Newborn
Parathyroid Hormone*
Precision Medicine
Pseudohypoparathyroidism*
Seizures
Vitamin D
Calcium
Parathyroid Hormone
Vitamin D

Reference

References

1. Mantovani G. Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011; 96:3020–30.

2. Albright F, Burnett CH, Smith CH, Parson W. Pseudohypoparathyroidism: an example of "Seabright-Bantam sindrome.". Endocrinology. 1942; 30:922–32.

3. Bertino E, Spada E, Occhi L, Coscia A, Giuliani F, Gagliardi L, et al. Neonatal anthropometric charts: the Italian neonatal study compared with other European studies. J Pediatr Gastroenterol Nutr. 2010; 51:353–61.

4. Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab. 2006; 20:501–13.

5. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol. 2008; 626:27–40.

6. Turan S. Current nomenclature of pseudohypoparathyroidism: inactivating parathyroid hormone/parathyroid hormone-related protein signaling disorder. J Clin Res Pediatr Endocrinol. 2017; 9(Suppl 2):58–68.

7. Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, et al. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network. Eur J Endocrinol. 2016; 175:P1–17.

8. Minagawa M, Yasuda T, Kobayashi Y, Niimi H. Transient pseudohypoparathyroidism of the neonate. Eur J Endocrinol. 1995; 133:151–5.

9. Manzar S. Transient pseudohypoparathyroidism and neonatal seizure. J Trop Pediatr. 2001; 47:113–4.

10. Sajitha S, Krishnamoorthy PN, Shenoy UV. Psedohypoparathyroidism in newborn - a rare presentation. Indian Pediatr. 2003; 40:47–9.

11. Narang M, Salota R, Sachdev SS. Neonatal pseudohypoparathyroidism. Indian J Pediatr. 2006; 73:97–8.

12. Koklu E, Kurtoglu S. Natal teeth and neonatal transient pseudohypoparathyroidism in a newborn. J Pediatr Endocrinol Metab. 2007; 20:971.

13. Lee CT, Tsai WY, Tung YC, Tsau YK. Transient pseudohypoparathyroidism as a cause of late-onset hypocalcemia in neonates and infants. J Formos Med Assoc. 2008; 107:806–10.

14. Patra S, Singh V, Pemde HK, Chandra J. Case series of neonatal hypocalcemia due to pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2010; 23:1073–5.

15. Ergin H, Karaca A, Ergin S, Cördük N, Karabulut N. Calcinosis cutis in a newborn with transient pseudohypoparathyroidism. Indian J Pediatr. 2011; 78:1424–6.