Article
A novel mutation in a case of pseudohypoparathyroidism type Ia.
The Turkish journal of pediatrics - 1 Jan 2016
Kırel Birgül, Demiral Meliha, Bozdağ Özkan, Karaer Kadri
Abstract excerpt
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His...
Topics
- Calcium
- Child, Preschool
- Chromogranins
- GTP-Binding Protein alpha Subunits, Gs
- Heterozygote
- Humans
- Male
- Mutation
- Parathyroid Hormone
- Phenotype
- Pseudohypoparathyroidism
- Vitamin D