\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...
patients'with thyrotoxico~is were seen over the past 21 yrs: the female/male ratio was 4:l. The ages ranged between 2 to 8 years. 28 patients were lost to follow-up and 60 were followed for an average of 3.9 yrs. Family history of thyroid disease was present in 23 patients and was thyrotoxicosis in 12. Of 28 patients (46%) who underwent sub-total thyroidectomy, 13 relapsed after an average of 3 years of medical treatment; 5 had hypersensitivity to Propylthiouracil; 11 showed poor cooperation. Prophylactic thyroid hormone was begun in 5 patients after surgery, and in an additional 8 because of subsequent hypothyroidism. Fourteen had permanent remission on medical treatment, three of whom may have had thyrotoxic thyroiditis. Of the series of 60 one child was referred after treatment with ~~1 1 3 1 , and another died of other causes.Fourteen patients on Propylthiouracil continue to be followed, and the longest duration of medical treatment has been 6 years in one patient. Our experience leads us to employ medical treatment for prolonged periods when there are no complications. The etiology of precocious sexual development in this disease entity has not been identified in vivo, but has been linked (in theory) with a concept of "overflow stimulation" of the anterior pituitary gonadotrophs, and/or of the hypothalamus with resultant releasing factor effects.We have developed a rat hemi-pituitary (pit) organ culture system. Utilizing NIAMD reagents both secreted and added rat LH was measured in medium 199 by radioimmunoassay. Pituitaries from 10 day old males secreted LH at a constant rate of 41.31 mug/hr/mg pit wet wt. ~~C E M with hourly media changes. When Rat LH-RP-1 was added to the media an immediate rise in hourly LH secretion was observed (Day 1, 103.3 ? 28.9; Day 2, 190.67 2 18.65). On Day 2 of culture a dose response was present. The LH-RP-1 contains 0.22 USP (Bovine) TSH Units/mg (McKenzie Assay) which appears to be responsible for the marked stimulation of LH secretion. Differential stimulation studies utilizing purified LH, FSH and TSH will confirm this observation.This study suggests that high endogenous TSH secretion which occurs in primary hypothyroidism has a direct stimulative effect on the gonadotrophs, and is responsible for the precocious sexual development. The suppression of TSH by thyroxine administration and resultant remission of precocity in these patients, further support our findings.FETAL AND NEONATAL DEVELOPMENT OF THE HYPOTHALAMIC-PITUITARY-GONADAL (HPG) AXIS. Herbert L. Vallet, Donna S. Gursky, Lesley S. Baldwin (Intr. by Richard B. Goldbloom), Dalhousie Univ., Dept. of Ped., I.W.K. Hosp. for Child., Halifax, Nova Scotia.A male rat model was developed to study parameters which may relate to the rise in plasma testosterone (T) seen in male human neonates, and also to define the critical period of HP differentiation (male-female types) after which reversal of brain sex centers (acyclicity vs cyclicity) cannot.occur.Animals were studied from 19 days gestation (da gest) to 29 da postnatal ...
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