Pseudohypoparathyroidism

Pseudohypoparathyroidism is a familial disease of metabolism in which the parathyroid glands are apparently normal in structure and function but organ response to the parathyroid hormone is abnormal. The condition was first described by Albright and his colleagues in 1942 (1), when the term “Seabright bantam syndrome” was applied to it by analogy with the condition observed in Seabright bantam roosters. The chief feature distinguishing it from other forms of chronic hypoparathyroid tetany is the lack of response to parathormone. The diagnosis can be suspected from radiographic study of the hands and skull. Elrick, Albright et at. in 1950 (2) cillected 14 cases and emphasized the following features of the disease: 1. Clinical and laboratory evidence of chronic parathyroid insufficiency; tetany without evidence of renal disease, steatorrhea, or generalized osteomalacia. Despite these findings, patients show little or no response to parathormone. 2. Shortening of metacarpal and metatarsal bones. 3. Clinical picture of shortness of stature, thickset appearance, round facies, mental etardation and short stubby fingers. 4. Soft-tissue calcification involving the basal ganglia and subcutaneous tissues. Our purpose in this presentation is to add 6 new cases to the 30 now appearing in the literature and to emphasize the diagnostic roentgen features. Case Reports Case I: A 12-year-old white twin girl gave a history of inspiratory stridor four weeks after birth. At five months she began to have frequent episodes of croup, which continued intermittently until the age of six. During a severe attack at four years of age a tracheostomy was required. At the age of five years twitching of the hands and face developed. A “spur” was noted on the right heel when the patient was eighteen months old. There were also hard, raised macular areas in the skin of the abdomen. Biopsy showed normal bone tissue at both sites (osteitis cutis in the skin of the abdomen). The diagnosis of pseudohypoparathyroidism was made by Dr. F. Albright in May 1948. Blood calcium at that time was 6.0 mg. per cent, blood phosphorus 2.6 mg. per cent, and alkaline phosphatase 10 King-Armstrong units. There was no urinary phosphorus diuresis after the intravenous administration of parathormone (Ellsworth-Howard test). The patient improved on treatment with Amphogel and dihydrotachysterol (A.T. 10). On first admission, at six years of age, the patient was a short, stocky, cooperative child with a round face, short hands, and stubby fingers (Fig. IA). Dorsiflexion of the left ankle was limited, and deep tendon reflexes were hyperactive. Chvostek and Trousseau reflexes were not elicited. Laboratory studies showed: blood calcium, 9.1 mg. per cent; phosphorus, 4.1 mg. per cent; alkaline phosphatase, 4.9 units.