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Pseudohypoparathyroidism Cochlea Thus Being Involved Arch Dis Child: first published as 10.1136/adc.52.10.798 on 1 October 1977. Downloaded from 798 Short reports vasopressin. Nonetheless, vasopressin being ela- Rose, F. C., Fraser, G. R., Friedman, A. I., and Kohner, E. M. (1966). The association of juvenile diabetes mellitus borated by the cells of the supraoptic hypothalamic and optic atrophy: clinical and genetical aspects. Quarterly nuclei, the diabetes insipidus must represent a Journal of Medicine, 35, 385-405. progressive degeneration of these hypothalamic cells Sunder, J. H., Danowski, T. S., Kenny, F. M., Khurana, or of the supra-optico-hypophyseal tract. R. C., Sun, A., Nolan, S., and Stephan, T. (1972). Pedigrees with diabetes insipidus, diabetes mellitus and optic Many of the reported cases have had urinary 408-412. tract abnormalities ranging from atonic bladder to atrophy. Journal of Medical Genetics, 9, hydronephrosis and hydroureter (Moore, 1971). JOYCE E. RICHARDSON and WILLIAM HAMILTON While congenital absence or progressive degenera- University Department of Child Health, Royal tion of the neural plexus of ureter and bladder is a Hospitalfor Sick Children, Yorkhill, Glasgow G3 8SJ. possible cause, it could be that the diabetes insipidus is contributory to the urinary tract dilatation. Correspondence to Dr. W. Hamilton. Reinvestigation after adequate treatment with vaso- pressin is clearly desirable. The deafness in the syndrome has uniformly been reported to be of high-tone type; the afferent fibres of the cochlear nerve from the basal coils of the Pseudohypoparathyroidism cochlea thus being involved. Published reports give no clear indication that there is progression of the Variable manifestations within a family deafness to suggest involvement of the afferent fibres from the middle and upper cochlear coils. However, The term pseudohypoparathyroidism (PHP) was the three neurological features of the syndrome first used by Albright et al. (1942) to describe a syn- (DI, OA, D) are almost certainly expressions of a drome characterized by a typical facial appearance progressive degenerative condition. Only the diabetes and short stature, with clinical and biochemical mellitus appears to be of extracranial aetiology, but features suggestive of hypoparathyroidism. One of a unifying pathology may ultimately be offered to their 3 patients had short 3rd, 4th, and 5th fingers. account for all the clinical features. All had an absent phosphaturic response to adminis- copyright. tered parathyroid extract. Surgical exploration ofone Summary patient showed normal parathyroid tissue. Similar developmental anomalies, but associated with nor- Three children with diabetes insipidus, diabetes mal serum calcium and phosphorus levels, were mellitus, optic atrophy, and high-tone deafness were reported by Albright et al. in 1952, and this variant shown to lack vasopressin, indicative of degeneration was termed pseudopseudohypoparathyroidism of the cells of the hypothalamic supraoptic nuclei. (PPHP). Several other conditions have now been The syndrome being due to a single gene defect, described with dysfunction at various levels of the http://adc.bmj.com/ inherited as an autosomal recessive, is therefore parathyroid-target tissue axis, with or without likely to be the result of an inborn error of metabo- abnormal somatic features. lism with variable periods oflatency in those affected. Case reports We thank Dr. J. J. Brown of the MRC Blood Pres- sure Unit, Western Infirmary Glasgow, for assistance We here report a family with 5 affected members (Fig.) showing different manifestations of this group with the ADH studies. on September 25, 2021 by guest. Protected of conditions. Their clinical, radiological, and bio- References chemical features are summarized in the Table. Moore, J. R. (1971). Juvenile diabetes mellitus, diabetes Discussion insipidus and neurological abnormalities. Proceedings of the Royal Society of Medicine, 64, 730. Morton, J. J., Padfield, P. L., and Forsling, M. L. (1975). A It has been recognized for some time that PHP and radioimmunoassay for plasma arginine-vasopressin in man PPHP can occur within the same family (Mann et al., and dog: application to physiological and pathological 1962). The expression of the physical and biochemi- states. Journal of Endocrinology, 65, 411-424. Page, M. M., Asmal, A. C., and Edwards, C. R. W. (1976). cal abnormalities in this group of conditions is Recessive inheritance of diabetes. The syndrome of extremely variable and ranges from short stature, diabetes insipidus, diabetes mellitus, optic atrophy and mental retardation, subcutaneous calcification, hypo- deafness. Quarterly Journal of Medicine, 45, 505-520. and many other manifestations to a single Rorsman, G., and Soderstrom, N. (1967). Optic atrophy and calcaemia, juvenile diabetes mellitus with familial occurrence. Acta small metacarpal. The urinary cyclic adenosine 3'5' Medica Scandinavica, 182, 419-425. monophosphate (cyclic AMP) response to exogenous Arch Dis Child: first published as 10.1136/adc.52.10.798 on 1 October 1977. Downloaded from Short reports 799 Case 2 fits well into the category of PHP (I) proposed by Nusynowitz et al. (1976) and is the traditional PHP of Albright. Case 3 similarly comes into that category having been labelled orginally as PPHP on the basis of normal serum calcium and phosphate levels. It should be noted that both Cases 2 and 3 have developed hypothyroidism. It is less easy to categorize Case 1. Repeated calcium estimations were normal, though this has previously been reported in a child diagnosed as PHP on the basis of typical clinical features, Year of birth 1961 1962 1966 1970 1971 1972 having Case 2 Case 1 Case 3 high levels of iPTH, and a poor cyclic AMP response to exogenous PTH (Balachandar et al., 1975). Monn Fig. A family exhibiting pseudo and pseudopseudohypo- et al. (1976) made similar observations with a diag- parathyroidism. nosis based on a poor cyclic AMP response, though iPTH levels in their patients were normal. They also suggested that hypocalcaemia frequently may appear parathyroid hormone (PTH) is also variable within late in the first decade as may brachydactyly. It has the group. It is usually abnormal in untreated PHP also been shown that some patients with PHP only but normal responses are seen in PPHP (Chase et al., develop hypocalcaemia during periods of increased 1969). calcium demand such as pregnancy (Gershberg and A recent review of the hypoparathyroid states Weseley, 1960). They have presumed suboptimal (Nusynowitz et al., 1976) proposed a more detailed skeletal and renal responsiveness to PTH and normal classification of the conditions previously known as iPTH levels and it is to this group that the term PHP and PPHP based upon three discriminants: PPHP has been allotted in the suggested classification (i) renal responsiveness to PTH; (ii) skeletal respon- of Nusynowitz et al. (1976). siveness to PTH; (iii) presence or absence of abnor- In our Case 1 an asymptomatic cardiac murmur copyright. mal somatic features. At present the urinary cyclic had been noted at age 14 months. A patent ductus AMP response seems the best test of renal respon- arteriosus (PDA) was diagnosed on clinical grounds. siveness to PTH. With the ready availability of cyclic At age 3 years he was admitted in heart failure and AMP estimations, the phosphaturic response to though the murmur was quite soft, chest x-ray exogenous PTH now seems of lesser value. We await showed cardiomegaly and an electrocardiogram a method suitable for accurate routine ascertainment showed marked right ventricular hypertrophy; of skeletal responsiveness. Caution is necessary in the previous recordings had been normal. At cardiac interpretation of parathyroid hormone radio- catheterization severe pulmonary hypertension was http://adc.bmj.com/ immunoassay (iPTH) results because of the variety demonstrated. Closure of the ductus was not under- of peptide fragments which may be identified. It is taken. At age 31 years during one of his frequent unclear whether this estimation might be used as a epileptiform attacks he had a cardiac arrest. Attempts further discriminant. at resuscitation failed. Necropsy examination Table Somatic and biochemical features of5 cases ofpseudohypoparathyroidism on September 25, 2021 by guest. Protected Brachydactyly Short Subcutaneous Mental Hypocalcaemia i PTH Urinary cyclic Plasma stature calcification retardation pg/ml A AfP response thyroxine to PTH Case 1 Osteoma 2400 Not Not Born 1970, died 1973 - + cutis + - (raised) tested tested Case 2 405 No Low Born 1961 + + + + + (normal) response Case 3 990 No Low Born 1971 - + - + (raised) response Case 4 285 Normal Normal Born 1940 + + + _ (normal) response Case 5 Not Not Not Born 1928 + - - - - tested tested tested Arch Dis Child: first published as 10.1136/adc.52.10.798 on 1 October 1977. Downloaded from 800 Short reports showed a small PDA (diameter 3 mm) and severe Chase, L. R., Nelson, G. L., and Aurbach, G. D. (1969). Pseudohypoparathyroidism: defective excretion of 3', 5'- changes ofpulmonary hypertension. The parathyroid AMP in response to parathyroid hormone. Journal of glands were hypertrophied. Clinical Investigation, 48, 1832-1844. We are not aware of any previous reports of Gershberg, H., and Weseley, A. C. (1960). Pseudohypopara- pulmonary hypertension in association with PHP thyroidism and pregnancy. Journal of Pediatrics, 56, 383- was 386. and its origin in this case is uncertain. The PDA Kolb, F. O., and Steinbach, H. L. (1962). Pseudohypopara- very small at
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