Pseudopseudohypoparathyroidism
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| Pseudopseudohypoparathyroidism | |
|---|---|
| Protein GNAS | |
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, round face, subcutaneous ossifications |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation in the GNAS complex locus |
| Risks | |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Pseudohypoparathyroidism, Albright's hereditary osteodystrophy |
| Prevention | |
| Treatment | Symptomatic management |
| Medication | |
| Prognosis | Generally good |
| Frequency | Rare |
| Deaths | |
Pseudopseudohypoparathyroidism (PPHP) is a rare inherited disorder, closely related to Albright's hereditary osteodystrophy (AHO). It is characterized by physical features that resemble those seen in hypoparathyroidism, but without the biochemical abnormalities associated with it.
Signs and Symptoms[edit]
Patients with PPHP typically exhibit features of AHO, such as short stature, obesity, round face, subcutaneous calcifications, and brachydactyly. However, they do not show the resistance to parathyroid hormone seen in pseudohypoparathyroidism (PHP).
Genetics[edit]
PPHP is caused by mutations in the GNAS1 gene, which encodes the alpha subunit of the stimulatory G protein. This protein plays a crucial role in the regulation of cellular responses to hormones. The mutations in PPHP are inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis[edit]
The diagnosis of PPHP is based on clinical features and genetic testing. The presence of AHO features without biochemical evidence of hypoparathyroidism is suggestive of PPHP. Genetic testing can confirm the diagnosis by identifying a mutation in the GNAS1 gene.
Treatment[edit]
There is no specific treatment for PPHP. Management is symptomatic and supportive, focusing on controlling the symptoms and improving the quality of life. This may include physiotherapy for mobility issues, and psychological support for any associated mental health issues.
See Also[edit]
References[edit]
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