\s=b\A mildly obese 15-year-old boy had short stature with rounded facies and short, stubby hands and toes. He had the fully expressed syndrome of pseudohypoparathyroidism but was the only member of his family who had all the somatic characteristics of this disease. The serum parathyroid hormone level was substantially elevated. Urinary excretion of cyclic adenosine monophosphate and phosphate failed to increase following intravenous infusion of parathyroid hormone. However, he did not have hypocalcemia. The present entity is probably a transient form of pseudohypoparathyroidism with partial responsiveness of skeletal adenyl cyclase to parathyroid hormone.(Am J Dis Child 129: [1092][1093][1094][1095] 1975) In 1942 Albright et al1 described a clinical syndrome characterized by short stature, abnormalities of bone, mental retardation, and tetany. It is also characterized by the bio¬ chemical and clinical features of hypoparathyroidism. However, unlike patients with hypoparathyroidism, these patients did not show a phosphaturic response to administered parathyroid hormone. Albright and co-workers named this disorder "pseudohypoparathyroidism" and postulated that the hypocalcemia was the result of end-organ resistance to parathyroid hormone. The genetically related disorder pseudo-pseudohypoparathyroidism represents an incom¬ plete form of the condition, with most of the constitutional features but without the chemical findings of hy¬ poparathyroidism.2We report the case of a boy with all the stigmata of pseudohypoparathy¬ roidism-high serum level of para¬ thyroid hormone and a subnormal increase in the urinary excretion of cyclic adenosine monophosphate (AMP) following infusion of parathy¬ roid hormone-but whose serum cal¬ cium level was normal on at least ten separate occasions.
REPORT OF A CASEA 15-year-old boy was first seen in the Growth Clinic at Nassau County Medical Center for evaluation of short stature in July 1973. Past history was normal except that during the first year his motor devel¬ opment was slightly delayed, and he re¬ peated the first grade. His mother had a subtotal thyroidectomy for hyperthyroidism. There was no consanguinity in his family, and they were of average size (fa¬ ther's height, 172 cm [68 in]; mother's height, 157 cm [62 in]).He was a small obese boy with rounded facies and short, stubby hands. His right middle finger and index fingers on both hands appeared relatively longer than the other fingers. There was absence of the fourth and fifth knuckles on the right hand and the third and fourth knuckles on the left hand (Fig 1 and 2). Great and second toes on both feet were long and laterally curved. Eczematous lesions were seen over the distal portions of both legs. His height was 152 cm (60 in), weight was 47.5 kg (104.7 lb), systolic blood pressure was 120 mm Hg, and diastolic blood pressure was 80 mm Hg. Chvostek and Trousseau signs were absent.The complete blood count was normal. The urine had a specific gravity of 1.018, an acidic pH, and no albumin or glucose. The serum total...
