[Case of pseudohypoparathyroidism type 1b diagnosed as having hypocalcemia].

The patient (age 46; female) had hypocalcemia without characteristic physical findings of Albright hereditary osteodystrophy in July, 1998. She had no evidence of tetany. Her blood test revealed elevated serum concentration of parathyroid hormone (PTH) in spite of hypocalcemia and hyperphosphatemia. Her Ellsworth-Howard test presented decreased excretion of both phosphate and cAMP in urine after PTH injection compared with normal range of response, indicating end-organ resistance to the actions of PTH. Finally, Ellsworth-Howard test, together with lack of clinical manifestations, resulted in diagnosis of pseudohypoparathyroidism type 1b.

[Disorders caused by abnormalities of glucocorticoid receptors].

Abnormalities of glucocorticoid receptors were assumed to cause resistance or hypersensitivity to glucocorticoid, while only glucocorticoid resistance has been described clinically. Patients with familial cortisol resistance have continuously elevated serum cortisol without any clinical manifestations of Cushing's syndrome due to hyposensitivity to cortisol in all tissues including the hypothalamus and the pituitary. Clinical symptoms of the disease are characterized by hypertension with hypokalemia and hyporeninemia, virilism in women, isosexual precocity in a boy and mild general fatigue. As the cause of the disease, a defect in glucocorticoid receptor affinity or binding capacity due to mutations in the glucocorticoid receptor gene has been reported. Another cause of the disease is the presence of heat labile glucocorticoid receptor. In 5 of 6 families with cortisol resistance reported so far, mutations of the glucocorticoid receptor gene have been demonstrated.