Abstract
Growth failure with disproportionate short stature is the major clinical feature of patients with X-linked hypophosphatemic rickets (HYP). We studied the pattern of linear growth and body proportion in an untreated normally growing HYP child also affected by Klinefelter's syndrome. Auxologic data were compared with those of a HYP half-brother who showed growth failure despite long-term treatment either with vitamin D or with vitamin-D-analog plus phosphate salt supplementation. The degree of body disproportion changed from negative values to positive values in the proband, whereas it was reduced in the half-brother. We conclude that, in the proband, the normal pattern of growth and the lack of the typical body disproportion as seen in HYP patients are attributable to the concomitant presence of Klinefelter's syndrome.
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Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Cambell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86:10001–10005
Balsan S, Tieder M (1990) Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. J Pediatr 116:365–371
Bayley N, Pinneau SR (1952) Tables for predicting adult height from skeletal age: revised for use with Greulich-Pyle hand standard. J Pediatr 40:423–441
Burnett CH, Dent CE, Harper C, Warland BJ (1964) Vitamin Dresistant rickets. Analysis of twenty-four pedigrees with hereditary and sporadic cases. Am J Med 36:222–232
Burr IM, Sizonenko PC, Kaplan SL, Grumbach MM (1970) Hormonal changes in puberty. I. Correlation of serum luteinizing hormone and follicle-stimulating hormone with stages of puberty, testicular size and bone age in normal boys. Pediatr Res 4:25–35
Greulich WW, Pyle SI (1959) Radiographic atlas of skeletal development of the hand and wrist, 2nd edn. Stanford University Press, Stanford, Calif.
Grumbach MM, Styne DM (1992) Puberty: ontogeny, neuroendocrinology, physiology, and disorders. In: Wilson JD, Foster DW (eds) Williams textbook of endocrinology, 8th edn. Saunders, Philadelphia, pp 1179–1221
Lee PA, O'Dea LSL (1990) Primary and secondary testicular insufficiency. Pediatr Clin North Am 37:1359–1387
Ogata T, Matsuo N (1993) Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Hum Genet 91:551–562
Petersen DI, Boniface AM, Schranck FW, Rupich RC, Whyte MP (1992) X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 7:583–597
Rasmussen H, Tenenhouse HS (1989) Hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th. edn. McGraw-Hill, New York, pp 2581–2604
Reusz GS, Hoyer PF, Lucas M, Krohn HP, Ehrich JHH, Brodehl J (1990) X linked hypophosphatemia: treatment, height gain, and nephrocalcinosis. Arch Dis Child 65:1125–1128
Rowe PSN, Goulding J, Read A, Lehrach H, Francis F, Hanauer A, Oudet C, Biancalana V, Kooh SW, Davies KE, O'Riordan JLH (1994) Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2). Hum Genet 93:291–294
Saggese G, Baroncelli GI, Bertelloni S, Federico G (1987) Rachitismo ipofosfatemico familiare. Effetti del trattamento con 1,25-diidrossicolecalciferolo a dosi soprafisiologiche. Minerva Pediatr 39:451–455
Saggese G, Baroncelli GI, Bertelloni S, Perri G (1994) Growth hormone secretion in poorly growing children with renal hypophosphataemic rickets. Eur J Pediatr 153:548–555
Schibler D, Brook CGD, Kind HP, Zachmann M, Prader A (1974) Growth and body proportion in 54 boys and men with Klinefelter's syndrome. Helv Paediatr Acta 29:325–333
Steendijk R, Hauspie RC (1992) The pattern of growth and growth retardation of patients with hypophosphataemic vitamin D-resistant rickets: a longitudinal study. Eur J Pediatr 151:422–427
Steendijk R, Herweijer TJ (1984) Height, sitting height and leg length in patients with hypophosphatemic rickets. Acta Paediatr 73:181–184
Steendijk R, Latham SC (1971) Hypophosphatemic vitamin D-resistant rickets; an observation on height and serum inorganic phosphate in untreated cases. Helv Paediatr Acta 26:179–184
Stickler GB, Morgenstern BZ (1989) Hypophosphatemic rickets: final height and clinical symptoms in adults. Lancet II:902–905
Tanner JM, Whitehouse RH (1976) Clinical longitudinal standards for height, weight, height velocity, weight velocity and stages of puberty. Arch Dis Child 51:170–179
Tanner JM, Whitehouse RH (1979) Standards for sitting height and subischial leg length from birth to maturity: British children 1978. Castlemead, Hertford
Tanner J, Whitehouse RH, Takaishi M (1966) Standards from birth to maturity for height, weight, height velocity and weight velocity: British children 1965. Arch Dis Child 41: 613–634
Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH (1958) A genetic study of familial hypophosphatemic and vitamin D-resistant rickets with a review of the literature. Medicine 37:97–142
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Baroncelli, G.I., Bertelloni, S., Perri, G. et al. Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion. Hum Genet 95, 581–585 (1995). https://doi.org/10.1007/BF00223875
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DOI: https://doi.org/10.1007/BF00223875