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Pseudo-Hypoparathyroidism a Description of Three Cases and a Critical Appraisal of Earlier Accounts of the Disease by M

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Pseudo-Hypoparathyroidism a Description of Three Cases and a Critical Appraisal of Earlier Accounts of the Disease by M Arch Dis Child: first published as 10.1136/adc.29.147.398 on 1 October 1954. Downloaded from PSEUDO-HYPOPARATHYROIDISM A DESCRIPTION OF THREE CASES AND A CRITICAL APPRAISAL OF EARLIER ACCOUNTS OF THE DISEASE BY M. E. MACGREGOR and T. P. WHITEHEAD From the South Warwickshire Paediatric Unit (RECEIVED FOR PUBLICATION APRIL 26, 1954) The credit for recognizing that the term 'chronic are frequently present. Metacarpals 1, 4 and 5 are idiopathic hypoparathyroidism' denotes at least two chiefly affected, and metacarpal 2 only rarely, clinical entities belongs to Albright and his col- whereas metatarsals 1 and 5 are the ones usually leagues. In 1942 Albright, Burnett, Smith and involved. These bones are abnormally short, often Parson separated off a group of cases which they wider than normal, and sometimes their epiphyses designated as 'pseudo-hypoparathyroidism', and invaginate the diaphyses because of inequality in they provided three illustrative case reports. In a rates of growth. In one case (that of Dr. J. Browne) second paper, in 1950, Elrick, Albright, Bartter, premature closure of the epiphyses at the elbow, Forbes and Reeves defined this entity with greater bowing of the legs and exostosis formation were precision, using data obtained from the study of present, and early closure of epiphyses was held to 14 cases. These consisted of their own earlier three account for short stature in other cases. In short, by copyright. cases, and of four new ones of their own, as well as an atypical chondrodystrophy is often associated of those published by Sprague, Haines and Power with this syndrome. (1945) and by Peterman and Garvey (1949). Five (4) Subcutaneous calcification is present in many other unpublished cases which are referred to but of (10 of the 14 cases listed) and is usually associated which the details are not provided in full make up with brachydactyly, inasmuch as only one case the total of 14. exhibited calcification without metacarpal changes. Pseudo-hypoparathyroid patients, according to The calcification is generally in the neighbourhood these writers, are to be distinguished from other of joints, especially of those in the hands and feet, cases of chronic idiopathic tetany (and henceforward but may be present in other sites. In some cases, http://adc.bmj.com/ in this article this second group will be labelled as has been proved by biopsy, actual bone formation 'spontaneous hypoparathyroidism') by the following occurs. characteristics. (5) In three cases biopsies were carried out on (1) Clinically and biochemically they appear to the parathyroid glands. In two of these hyperplasia conform to the pattern of parathyroid insufficiency. of the removed gland was found, and in the third a Drake, Albright, Bauer and Castleman (1939) regard normal histology. (This case, however, had been a low serum calcium level with a high serum treated for one month with A.T.10 before the biopsy phosphorus level, unaccompanied by generalized was done.) From these findings and the observed on September 30, 2021 by guest. Protected bone disease, but with normal renal function and fat insensitivity to parathyroid hormone the authors absorption, as the essentials of this diagnosis. deduce that parathyroid hormone is being secreted Despite these findings, cases of pseudo-hypo- by the glands, and that the metabolic error lies in parathyroidism show little or no response to the end-organ which is failing to respond to it. The parathyroid hormone either clinically or chemically, original (1942) paper was sub-titled 'An Example of and some cases do not react in the normal way to the Seabright Bantam Syndrome', thereby drawing A.T. 10 (dihydrotachysterol) either (cf. Fig. 1). an analogy to the Seabright Bantam cockerel which (2) A typical physique is described, the com- displays female plumage in spite of having andro- ponents of which are a round face, shortness of genic hormone in the circulation, presumably stature, and a stocky or thick-set build. because the end-organs fail to respond to the (3) Changes in the shape of the metacarpal bones, hormone. The beardless face of the American less often of the metatarsals and phalanges as well, Indian, and the pitressin-resistant case of diabetes 398 Arch Dis Child: first published as 10.1136/adc.29.147.398 on 1 October 1954. Downloaded from PSEUDO-HYPOPARATHYROIDISM 399 N N 0 N -. o U m N c0 -J 4 Z N U5.0 co t00 .4_ c C E I c n! -S '0 C' '0 bo N z 9 Cd as N ._ N 3 z by copyright. In90 do I- 4 coN .0 O4 1~- 0 id c N 0 U. Cd 0 E 0 Cd 4A http://adc.bmj.com/ 0_C a ow 4t 'a. N 0 0. Nm -0. '0 on September 30, 2021 by guest. Protected '0 0 o 4) 'o0 0 0' O 0 r-0 lb 1NW 001d3d* 9W4 '-IV 001 b3d 9N v'Jn i yi wnb3s snbOHdSOHd v4nu3s Arch Dis Child: first published as 10.1136/adc.29.147.398 on 1 October 1954. Downloaded from 400 ARCHIVES OF DISEASE IN CHILDHOOD insipidus are other examples of end-organ unrespon- days and 1,700 U.S.P. units in five days respectively) siveness. However, as Alexander and Tucker (1949) with no effect on serum calcium or phosphorus point out, the comparison with the Seabright levels. Both these patients responded to A.T.10 Bantam is unsatisfactory because Morgan's (1915) with a rise of serum calcium, but the large dose of paper that describes the reactions of this bird reveals 25 mg. daily was necessary. also that castration would restore the plumage to that of a normal male. Some more complex Ellsworth-Howard Test. In the other cases explanation than end-organ failure is therefore sensitivity to the hormone was assessed by means required. Perhaps for this reason Albright and his of the Ellsworth-Howard test (Ellsworth and colleagues no longer designate pseudo-hypopara- Howard, 1934). This is a test which measures the thyroidism as the Seabright Bantam syndrome after power of an intravenous dose of parathyroid their first reference to the term (Albright et al., hormone to increase the renal clearance of phos- 1942). Nevertheless so colourful an association phorus, and is simply performed by collecting hourly with a disease is not easily left behind, and it is still urine samples before and after an intravenous dose to be found in many textbook accounts of the of 200 U.S.P. units (40 B.P.C. units) of parathyroid condition. hormone, and comparing the subsequent urinary Elrick et al. (1950) encountered the abnormality phosphorus excretion with the pre-injection levels. in two sets of identical twins, and in a mother and The originators of the test found that in normal son, and suggested that there is an hereditary factor subjects a two- or three-fold increase in phosphorus in the condition. They also drew attention to the excretion was regularly obtained, often though not low intelligence of several of their patients, presumed always accompanied by a diuresis, and that this rise not to be a consequence of convulsions because one occurred within the first three hours after the who was retarded had had no fits. injection. When patients suffering from spontaneous The authors conclude that the condition involves or post-operative hypoparathyroidism were tested three disturbances, each of which is independent of in this way an exaggerated response was obtained, other two and can lead to 10 or more the therefore the following the phosphorus clearance increasing by by copyright. abnormalities, which may occur in any combina- times over the resting level. This enhanced response tion: (a) Disturbance of the parathyroid end-organ; has been demonstrated in parathyroidectomized (b) dyschondroplasia; (c) a propensity to form bone experimental animals, and in human parathyroid in subcutaneous tissues. When the second and deprivation due either to thyroidectomy or to third features are present without the first, tetany spontaneous deficiency by a number of other will of course be absent and serum calcium and workers (Albright and Ellsworth, 1929; Emerson, phosphorus values normal. Such a case (tortuously Walsh and Howard, 1941; Berezin and Stein, 1948; labelled pseudo-pseudohypoparathyroidism!) was Medill, 1951). described by Albright, Forbes and Henneman Albright and his colleagues were able to confirm (1952) in a Colombian girl who possessed Ellsworth and Howard's results on normal indi- http://adc.bmj.com/ all the physical features of pseudo-hypopara- viduals, but when the Ellsworth-Howard test was thyroidism except for hypocalcaemia, but interest- used on their cases of pseudo-hypoparathyroidism ingly enough is not related to have been mentally it was found that different results were obtained retarded. These authors very plausibly suggest that (Elrick et al., 1950). In three cases there was no pseudo-hypoparathyroidism arises from the mutation response at all, although to one of these more than of a gene which controls several traits, and offer as double the normal test dose of parathyroid hormone clinical parallels the syndromes of ovarian agenesis had been given. Repeated tests on the other two on September 30, 2021 by guest. Protected and of polyostotic fibrous dysplasia, in each of which confirmed that an effect on phosphorus clearance an endocrine disorder is accompanied by several was absent. In a fourth and fifth case, however, apparently unrelated abnormalities. It is now our some response was obtained, though in the opinion intention to discuss in some detail the diagnostic of the authors there was a reduced sensitivity. criteria which have just been outlined. 'Resistance to extract of parathyroid need not be complete', they remark, 'and the Ellsworth-Howard Insensitivity to Parathyroid Hormone test alone may not be relied upon to distinguish It is of especial interest to observe by what between the two diseases,' namely pseudo- and standards the authors judge insensitivity to injected spontaneous hypoparathyroidism.
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