ABSTRACT
Pseudohypoparathyroidism (PHP) and related disorders represent a form of hormone resistance related to abnormalities in the activation of G proteins. The hormones that activate the G protein include glycoproteins, peptides, and neurotransmitters. PHP is often diagnosed clinically and with laboratory tests. This chapter details the diagnostic criteria for PHP. The diagnosis can be confirmed by molecular genetic analysis. Treatment of hypothyroidism is by levothyroxine administration to achieve a normal thyroid stimulating hormone level. Hypogonadism in males and females is treated with testosterone and estrogen/progesterone, respectively. Dietary and lifestyle measures should be implemented at the time of diagnosis, irrespective of the body mass index. Patients should be screened at diagnosis and during follow-up for weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension. There is currently no specific therapy or medication for heterotopic ossifications. Small ossifications usually do not progress. Ossifications that cause pain and/or irritations may be surgically removed.
