• Effect of growth hormone treatment on height, growth velocity, body mass index, lipid profiles every 3 months; effect on percent body fat and bone mineral density annually [ Time Frame: until achieve final height ] [ Designated as safety issue: Yes ]
  

Drug: Growth hormone treatment
Growth hormone treatment

Pseudohypoparathyroidism type 1a (PHP type 1a) is a disorder that causes many endocrine and developmental problems. To date, medical treatment has focused primarily on maintenance of normal serum levels of calcium, phosphorous, and thyroid hormone. However, these therapeutic interventions do not address the problems of short stature and obesity, which for many are a source of considerable morbidity and personal distress. These patients require frequent medical care, blood tests, and medication adjustments. PHP type 1a is an inherited condition with an estimated prevalence in the United States of 1:10,000- 50,000, and the studies that we propose provide an opportunity to improve the quality of life in affected patients. We have found that growth hormone (GH) deficiency is common in these patients, and our data suggests that GH testing should be part of their routine standard of care. We are investigating whether GH treatment can increase height (in children), reduce weight, and improve a variety of metabolic disturbances and overall health.

GH deficiency not only leads to short stature and obesity, but also to osteoporosis, hyperlipidemia, depressed cardiac and renal function, as well as an overall lack of energy. It is quite possible that treatment of GH-deficient patients with PHP type 1a could improve any or all of the above problems. GH treatment has been FDA approved for use in both children and adults with GH deficiency. Therefore, it may be possible to provide improvement in health and overall quality of life in these patients. We are currently not treating patients with PHP type 1a who are not GH deficient unless they qualify for GH treatment based on another FDA approved indication. Pseudopseudohypoparathyroidism, a condition also characterized by obesity and short final adult height, is not associated with hormone abnormalities including GH deficiency. However, it is possible that a subset of these patients may qualify for GH treatment based on another FDA approved indication, and certain patients may qualify for treatment on a research basis in the future.