Pseudohypoparathyroidism (Fig. 14.27) is transmitted with an X-linked inheritance, the patients having peripheral resistance to the actions of parathyroid hormone (PTH ) . The typical phenotypic features include short stature, a round face, obesity, a short thick neck, decreased intelligence, subcutaneous calcification, and ossification. Shortening of the metacarpals is frequent. The diagnosis may be confirmed by the presence of low or normal levels of serum calcium, elevated phosphate levels, and the presence of a raised PTH level. Following PTH infusion, urinary cAMP fails to rise. The condition is treated by administering high doses of vitamin D.
