Neonatal and Early Infancy Features of Patients With Inactivating Parathyroid Hormone (PTH)/PTHrP Signaling Disorders/Pseudohypoparathyroidism
Authors' conclusion
Our findings suggest that iPPSD/PHP and especially iPPSD2/PHP1A newborns require specific care at birth because of an increased risk of neonatal complications. These complications may predict a more severe course of the disease; however, they are unspecific which likely explains the diagnostic delay.
Study context
- Population
- Patients diagnosed with inactivating PTH/PTHrP signaling disorders/pseudohypoparathyroidism (iPPSD/PHP)
- Participants
- 136 patients
- Outcome
- Rate of neonatal complications in each iPPSD/PHP category
- Follow-up
- First month of life
Methodological detailsData on birth collected retrospectively
- Data on birth collected retrospectively
Main finding
As reported in the abstract
At least one neonatal complication
All iPPSD/PHP patients
36%
iPPSD2/PHP1A patients
47%
Observational data: associations, not effects.
Further findings
Neonatal hypoglycemia and transient respiratory distress in iPPSD2/PHP1A
- Neonatal hypoglycemia (significantly frequent)
- 10.5%
- Transient respiratory distress (significantly frequent)
- 18.4%
Association of neonatal features with later disease course
- Earlier resistance to thyroid-stimulating hormone (TSH)
- P < 0.001
- Neurocognitive impairment later in life
- P = 0.02
- Constipation later in life
- P = 0.04
Original publication
Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism. J Clin Endocrinol Metab. Published 25 April 2023. doi:10.
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