Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA
Authors' conclusion
Long-term follow-up of newborns with a combination of congenital hypothyroidism, early-onset obesity, and minor dysmorphic features associated with PHPIA is warranted and molecular analysis is recommended since the complete clinical phenotype may develop a long time after initial presentation.
Study context
- Population
- Children with PHPIA and genetically confirmed GNAS mutations, 2 referral centers in Israel6 families
- Participants
- 9 children
- Outcome
- Clinical and molecular characteristics and long-term outcomes
- Follow-up
- Up to 20 years
Methodological details2 referral centers, Israel
- 2 referral centers
- Israel
Main finding
As reported in the abstract
- Females
- 8
- GNAS missense mutations
- 5 patients
- GNAS deletions
- 2 patients
- GNAS frameshift mutations
- 2 patients
- Novel mutations
- 4
- Mean age at referral
- 2.4 years
- Referred for congenital hypothyroidism
- 5 patients
- Referred for short stature
- 2 patients
- Referred for obesity
- 2 patients
- Mean age at documented elevated PTH
- 3 years
- Mean age at evident hypocalcemia (about 3 years later)
- 5.9 years
- Mild to moderate mental retardation
- all subjects
- Female adult height (very short), mean
- −2.5 SD
- Females with primary or secondary amenorrhea
- 5
Observational data: associations, not effects.
Original publication
Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA. J Clin Endocrinol Metab. Published 5 September 2023. doi:10.
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