{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:20:16Z","timestamp":1791292816390,"version":"4.1.0"},"reference-count":27,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1977,10,1]]},"DOI":"10.1136\/adc.52.10.798","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:14:24Z","timestamp":1229980464000},"page":"798-800","source":"Crossref","is-referenced-by-count":7,"title":["Pseudohypoparathyroidism. Variable manifestations within a family."],"prefix":"10.1136","volume":"52","author":[{"given":"A J","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Wilkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W H","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"385","article-title":"The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects","volume":"35","author":"Rose, F.C.; Fraser, G.R.; Friedman, A.I.; Kohner, E.M.","year":"1966","unstructured":"Rose, F. C., Fraser, G. R., Friedman, A. I., and Kohner, E. M. (1966). The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Quarterly Journal of Medicine, 35, 385-405.","journal-title":"Quarterly Journal of Medicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1136\/jmg.9.4.408","article-title":"Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy","volume":"9","author":"Sunder, J.H.; Danowski, T.S.; Kenny, F.M.; Khurana, R.C.; Sun, A.; Nolan, S.; Stephan, T.","year":"1972","unstructured":"Sunder, J. H., Danowski, T. S., Kenny, F. M., Khurana, R. C., Sun, A., Nolan, S., and Stephan, T. (1972). Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy. Journal of Medical Genetics, 9, 408-412.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","article-title":"Variable manifestations within a family The term pseudohypoparathyroidism (PHP) was first used by Albright","author":"et al. in","year":"1942","unstructured":"Variable manifestations within a family The term pseudohypoparathyroidism (PHP) was first used by Albright et al. (1942) to describe a syndrome characterized by a typical facial appearance and short stature, with clinical and biochemical features suggestive of hypoparathyroidism. One of their 3 patients had short 3rd, 4th, and 5th fingers. All had an absent phosphaturic response to administered parathyroid extract. Surgical exploration of one patient showed normal parathyroid tissue. Similar developmental anomalies, but associated with normal serum calcium and phosphorus levels, were reported by Albright et al. in 1952, and this variant was termed pseudopseudohypoparathyroidism (PPHP). Several other conditions have now been described with dysfunction at various levels of the parathyroid-target tissue axis, with or without abnormal somatic features.","journal-title":"et al; to describe a syndrome characterized by a typical facial appearance and short stature, with clinical and biochemical features suggestive of hypoparathyroidism. One of their 3 patients had short 3rd, 4th, and 5th fingers. All had an absent phosphaturic response to administered parathyroid extract. Surgical exploration of one patient showed normal parathyroid tissue. Similar developmental anomalies, but associated with normal serum calcium and phosphorus levels, were reported by Albright"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1177\/003591577106400716","article-title":"Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities","volume":"64","author":"Moore, J.R.","year":"1971","unstructured":"Moore, J. R. (1971). Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities. Proceedings of the Royal Society of Medicine, 64, 730.","journal-title":"Proceedings of the Royal Society of Medicine"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1677\/joe.0.0650411","article-title":"A radioimmunoassay for plasma arginine-vasopressin in man and dog: application to physiological and pathological states","volume":"65","author":"Morton, J.J.; Padfield, P.L.; Forsling, M.L.","year":"1975","unstructured":"Morton, J. J., Padfield, P. L., and Forsling, M. L. (1975). A radioimmunoassay for plasma arginine-vasopressin in man and dog: application to physiological and pathological states. Journal of Endocrinology, 65, 411-424.","journal-title":"Journal of Endocrinology"},{"key":"ref_6","author":"Page, M.M.; Asmal, A.C.; Edwards, C.R.W.","year":"1976","unstructured":"Page, M. M., Asmal, A. C., and Edwards, C. R. W. (1976)."},{"key":"ref_7","first-page":"505","article-title":"Recessive inheritance of diabetes. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness","volume":"45","unstructured":"Recessive inheritance of diabetes. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Quarterly Journal of Medicine, 45, 505-520.","journal-title":"Quarterly Journal of Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.0954-6820.1967.tb10865.x","article-title":"Optic atrophy and juvenile diabetes mellitus with familial occurrence","volume":"182","author":"Rorsman, G.; Soderstrom, N.","year":"1967","unstructured":"Rorsman, G., and Soderstrom, N. (1967). Optic atrophy and juvenile diabetes mellitus with familial occurrence. Acta Medica Scandinavica, 182, 419-425.","journal-title":"Acta Medica Scandinavica"},{"key":"ref_9","article-title":"It has been recognized for some time that PHP and PPHP can occur within the same family (Mann et al., 1962). The expression of the physical and biochemical abnormalities in this group of conditions is extremely variable and ranges from short stature, mental retardation, subcutaneous calcification, hypocalcaemia, and many other manifestations to a single small metacarpal. The urinary cyclic adenosine 3'5' monophosphate (cyclic AMP) response to exogenous Short reports 799","unstructured":"It has been recognized for some time that PHP and PPHP can occur within the same family (Mann et al., 1962). The expression of the physical and biochemical abnormalities in this group of conditions is extremely variable and ranges from short stature, mental retardation, subcutaneous calcification, hypocalcaemia, and many other manifestations to a single small metacarpal. The urinary cyclic adenosine 3'5' monophosphate (cyclic AMP) response to exogenous Short reports 799"},{"issue":"1966 1970","key":"ref_10","article-title":"Year of birth 1961","volume":"1962","year":"1972","unstructured":"Year of birth 1961 1962 1966 1970 1971 1972"},{"key":"ref_11","article-title":"Case 2 fits well into the category of PHP (I) proposed by Nusynowitz","year":"1976","unstructured":"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.","journal-title":"et al; 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"},{"key":"ref_12","volume":"died","author":"Born","year":"1970","unstructured":"Born 1970, died 1973"},{"key":"ref_13","article-title":"Case 3 Born","year":"1971","unstructured":"Case 3 Born 1971"},{"key":"ref_14","article-title":"We are not aware of any previous reports of pulmonary hypertension in association with PHP and its origin in this case is uncertain. The PDA was very small at necropsy and though it may originally have been larger, clinical and radiological evidence suggests that this was unlikely to be the cause of such severe pulmonary vascular damage","unstructured":"We are not aware of any previous reports of pulmonary hypertension in association with PHP and its origin in this case is uncertain. The PDA was very small at necropsy and though it may originally have been larger, clinical and radiological evidence suggests that this was unlikely to be the cause of such severe pulmonary vascular damage."},{"key":"ref_15","article-title":"The relationship between PHP, PPHP, and allied conditions remains incompletely understood, and the introduction of terms such as 'pseudoidiopathic hypoparathyroidism'","volume-title":"and 'pseudohypohyperparathyroidism' (Kolb and Steinbach, 1962) does little to clarify the situation. It is likely that many more variants will be differentiated particularly as the steps between cyclic AMP generation and cellular response are delineated. Until such time as the aetiology is clearer it seems wiser to describe each patient by clinical and biochemical profile alone rather than by allocation of ever more complex nomenclature","author":"Nusynowitz; Klein","year":"1973","unstructured":"The relationship between PHP, PPHP, and allied conditions remains incompletely understood, and the introduction of terms such as 'pseudoidiopathic hypoparathyroidism' (Nusynowitz and Klein, 1973) and 'pseudohypohyperparathyroidism' (Kolb and Steinbach, 1962) does little to clarify the situation. It is likely that many more variants will be differentiated particularly as the steps between cyclic AMP generation and cellular response are delineated. Until such time as the aetiology is clearer it seems wiser to describe each patient by clinical and biochemical profile alone rather than by allocation of ever more complex nomenclature."},{"key":"ref_16","article-title":"A wide variety of clinical and biochemical manifestations have been reported in association with pseudohypoparathyroidism and associated disorders. This is illustrated by a family study in which the affected members show widely differing characteristics","unstructured":"A wide variety of clinical and biochemical manifestations have been reported in association with pseudohypoparathyroidism and associated disorders. This is illustrated by a family study in which the affected members show widely differing characteristics."},{"key":"ref_17","first-page":"922","article-title":"Pseudohypoparathyroidism-an example of 'Seabright-Bantam syndrome'","volume":"30","author":"Albright, F.; Burnett, C.H.; Smith, P.H.; Parson, W.","year":"1942","unstructured":"Albright, F., Burnett, C. H., Smith, P. H., and Parson, W. (1942). Pseudohypoparathyroidism-an example of 'Seabright-Bantam syndrome'. Endocrinology, 30, 922-932.","journal-title":"Endocrinology"},{"key":"ref_18","first-page":"337","volume":"65","author":"Albright, F.; Forbes, A.P.; Henneman, P.H.","year":"1952","unstructured":"Albright, F., Forbes, A. P., and Henneman, P. H. (1952). Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians, 65, 337-350.","journal-title":"Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians"},{"key":"ref_19","first-page":"1092","article-title":"Pseudohypoparathyroidism with normal serum calcium level","volume":"129","author":"Balachandar, V.; Pahuja, J.; Maddaiah, V.T.; Collipp, P.J.","year":"1975","unstructured":"Balachandar, V., Pahuja, J., Maddaiah, V. T., and Collipp, P. J. (1975). Pseudohypoparathyroidism with normal serum calcium level. American Journal of Diseases of Children, 129, 1092-1095.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1172\/JCI106149","article-title":"Pseudohypoparathyroidism: defective excretion of 3', 5'AMP in response to parathyroid hormone","volume":"48","author":"Chase, L.R.; Nelson, G.L.; Aurbach, G.D.","year":"1969","unstructured":"Chase, L. R., Nelson, G. L., and Aurbach, G. D. (1969). Pseudohypoparathyroidism: defective excretion of 3', 5'AMP in response to parathyroid hormone. Journal of Clinical Investigation, 48, 1832-1844.","journal-title":"Journal of Clinical Investigation"},{"key":"ref_21","first-page":"383386","volume":"56","author":"Gershberg, H.; Weseley, A.C.","year":"1960","unstructured":"Gershberg, H., and Weseley, A. C. (1960). Pseudohypoparathyroidism and pregnancy. Journal of Pediatrics, 56, 383386.","journal-title":"Pseudohypoparathyroidism and pregnancy. Journal of Pediatrics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1210\/jcem-22-1-59","article-title":"Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa","volume":"22","author":"Kolb, F.O.; Steinbach, H.L.","year":"1962","unstructured":"Kolb, F. O., and Steinbach, H. L. (1962). Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa. Journal of Clinical Endocrinology and Metabolism, 22, 59-70.","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"315","DOI":"10.7326\/0003-4819-56-2-315","article-title":"Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudopseudohypoparathyroidism","volume":"56","author":"Mann, J.B.; Alterman, S.; Hills, A.G.","year":"1962","unstructured":"Mann, J. B., Alterman, S., and Hills, A. G. (1962). Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Annals of Internal Medicine, 56, 315-342.","journal-title":"Annals of Internal Medicine"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1111\/j.1651-2227.1976.tb04918.x","article-title":"Pseudohypoparathyroidism. A difficult diagnosis in early childhood","volume":"65","year":"1976","unstructured":"Monn, E., Osnes, J. B., 0ye, I., and Wefring, K. W. (1976). Pseudohypoparathyroidism. A difficult diagnosis in early childhood. Acta Paediatrica Scandinavica, 65, 487-494.","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/0002-9343(73)90191-5","article-title":"Pseudoidiopathic hypoparathyroidism","volume":"55","author":"Nusynowitz, M.L.; Klein, M.H.","year":"1973","unstructured":"Nusynowitz, M. L., and Klein, M. H. (1973). Pseudoidiopathic hypoparathyroidism. American Journal of Medicine, 55, 677-686.","journal-title":"American Journal of Medicine"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/00005792-197603000-00001","article-title":"The spectrum of the hypoparathyroid states","volume":"55","year":"1976","unstructured":"Nusynowitz, M. L., Frame, B., and Kolb, F. 0. (1976). The spectrum of the hypoparathyroid states. Medicine (Baltimore), 55, 105-120.","journal-title":"Medicine (Baltimore)"},{"key":"ref_27","article-title":"Prostaglandin-induced diarrhoea The motility of the gastrointestinal tract is affected by many physiological compounds, including prostaglandins (PGs). It is possible that one or more of these substances may operate as intermediates between polypeptide hormones and the adenyl cyclase-cyclic AMP pathway. Exogenous PGF2oc given to initiate labour or abortion frequently provokes diarrhoea as a side effect, and some women experience diarrhoea during the menses (Rees and Rhodes, 1976) when large amounts of PGF2ot are present in the menstrual flow (Pickles","author":"true","year":"1965","unstructured":"Prostaglandin-induced diarrhoea The motility of the gastrointestinal tract is affected by many physiological compounds, including prostaglandins (PGs). It is possible that one or more of these substances may operate as intermediates between polypeptide hormones and the adenyl cyclase-cyclic AMP pathway. Exogenous PGF2oc given to initiate labour or abortion frequently provokes diarrhoea as a side effect, and some women experience diarrhoea during the menses (Rees and Rhodes, 1976) when large amounts of PGF2ot are present in the menstrual flow (Pickles et al., 1965; Lundstrom et al., 1977) and plasma levels may be raised. The following case report describes an infant in whom persistent diarrhoea was associated with raised plasma PGF2oc and PGE,, and was controlled by prostaglandin-synthetase inhibitors.","journal-title":"et al; and plasma levels may be raised. The following case report describes an infant in whom persistent diarrhoea was associated with raised plasma PGF2oc and PGE,, and was controlled by prostaglandin-synthetase inhibitors"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.52.10.798","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T11:33:59Z","timestamp":1709811239000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.52.10.798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,10,1]]},"references-count":27,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1977,10,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.52.10.798","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1977,10,1]]}}}