Pseudohypoparathyroidism synonyms
What other names are the Pseudohypoparathyroidism known by? Synonyms and other terms with which Pseudohypoparathyroidism is known.
Pseudohypoparathyroidism is a rare genetic disorder that affects the body's ability to respond to parathyroid hormone (PTH). This hormone plays a crucial role in regulating calcium and phosphorus levels in the body. Individuals with pseudohypoparathyroidism have symptoms similar to those with hypoparathyroidism, but the underlying cause is different.
Synonyms for pseudohypoparathyroidism include Albright hereditary osteodystrophy (AHO) and Seabright-Bantam syndrome. These terms are often used interchangeably to describe the same condition.
Albright hereditary osteodystrophy is named after Fuller Albright, the endocrinologist who first described the disorder. It is characterized by a combination of physical features and hormone resistance. Individuals with AHO may exhibit short stature, round face, obesity, and shortening of certain bones in the hands and feet. Additionally, they may experience intellectual disabilities and developmental delays.
Seabright-Bantam syndrome is another term used to describe pseudohypoparathyroidism. It refers to the same disorder but emphasizes the skeletal abnormalities seen in affected individuals. These abnormalities can include short stature, brachydactyly (short fingers), and metacarpal/metatarsal shortening.
It is important to note that pseudohypoparathyroidism is a complex disorder with different subtypes, including type 1A, type 1B, type 1C, and type 2. Each subtype has its own distinct features and genetic mutations, but they all share the common characteristic of PTH resistance.
Diagnosis of pseudohypoparathyroidism involves clinical evaluation, hormone level testing, and genetic testing to identify the specific subtype. Treatment typically focuses on managing symptoms and maintaining calcium and phosphorus balance through vitamin D supplementation and other medications.
