Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family

Pseudohypoparathyroidism is a complex disorder of renal resistance to parathyroid hormone the mechanism of which is unclear. It is often associated with skeletal abnormalities and there may also be other hormonal defects. This is an extensive endocrinological investigation of five of six affected members in two generations of one family. The phenotypic variability of the syndrome is explored: four members had hypothyroidism; two had abnormal gonadal function; all five had abnormal prolactin response to TRH; one had abnormal hepatic response to glucagon infusion. All had normal hypothalamic-pituitary-adrenal axes, renal responsiveness to vasopressin and growth hormone responses to a variety of stimuli. Special note is made of oral pathology, and evidence of platelet aggregation abnormalities is presented which has not previously been described in the syndrome.