Pseudohypoparathyroidism (PHP) is a rare inherited syndrome frequently associated with Albright’s hereditary osteodystrophy (AHO). We conducted a multicenter study including 71 PHP children and 77 relatives. Erythrocyte Gsα biological activity was measured in each patient (normal range 85-110%). 61 patients were classified into four subtypes based on clinical and endocrine data and Gsα activity: 45 PHP la, 8 PHP lb, 2 PHP II, and 6 PHP Ic. PHP la had decreased Gsα (58 ± 9%), PHP lb patients had PTH resistance, no AHO and normal Gsα (96 ± 9%), PHP Ic patients had PTH resistance, AHO and no decreased Gsα (97 ± 13%). The 10 remaining patients were considered to have pseudo-pseudohypoparathyroid (Pseudo-PHP) and were divided into two subtypes. One subtype had decreased Gsα and the second subtype had normal Gsα activity. The heterogeneous expression of Pseudo-PHP and thyrotropin resistance, which preceded parathyroid hormone resistance in 24% of the children, suggested that PHP might be a gradually evolving disease. GRF resistance was found in 4 out of 9 children investigated. The pedigree analysis showed PHP la had a dominant mode of inheritance with increased severity through generations. Pedigree analysis did not support a genomic imprinting hypothesis. Two children out of 9 had a chromosome 2 abnormality. This study confirms that Gsα activity is a significant marker in the diagnosis and classification of PHP.

Keywords:
Pseudohypoparathyroidism, Clinical study, Blood classification, Genetics, Pseudo-pseudohypoparathyroidism, Albright’s hereditary osteodystrophy, Infant, Child, Adolescence, Nucleotide GTP-binding protein
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© 1997 S. Karger AG, Basel
1997
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