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Comparison of Adult Height Between Patients J Med Genet: First Published As 10.1136/Jmg.29.8.539 on 1 August 1992

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Comparison of Adult Height Between Patients J Med Genet: First Published As 10.1136/Jmg.29.8.539 on 1 August 1992 J Med Genet 1992; 29: 539-541 539 Comparison of adult height between patients J Med Genet: first published as 10.1136/jmg.29.8.539 on 1 August 1992. Downloaded from with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s) Tsutomu Ogata, Nobutake Matsuo Abstract Results Adult height was compared between Twenty-seven patients were identified for published cases ofpatients with XX gona- both XXGD9'8 and XYGD.78151>34 The mean dal dysgenesis (XXGD) and those with adult height was 164-4 cm (SD 7-7) (range 148 XY gonadal dysgenesis (XYGD). The to 180 cm) for the patients with XXGD and mean adult height of XYGD patients 171O0cm (SD 78) (range 150 to 183 cm) for (171-0 cm (SD 7-8), n= 27) was signific- those with XYGD. This adult height dif- antly greater than that of XXGD patients ference of 6-6 cm was statistically significant (164-4cm (7-7), n=27) (p<001). This (p < 0 01). Between the two groups, the distri- finding supports the existence of a Y spe- bution of ages was comparable (XXGD, mean cific growth gene(s) which promotes sta- 25-9 years, range 20 to 37; XYGD, mean 26-2 tural growth independently of the effects years, range 20 to 38) as was that ofpublication of gonadal sex steroids. years (XXGD, mean 1968, range 1961 to 1982; XYGD, mean 1973, range 1964 to 1984). Twenty-two patients with XXGD and 24 patients with XYGD appeared to be Cauca- Pure XX gonadal dysgenesis (XXGD) and XY sians of various nationalities; the remaining gonadal dysgenesis (XYGD) are disorders of patients were two American blacks,"1 31 five sexual development characterised by a rudi- South Americans, 171830 and one African.rcn27ThThe mentary streak gonad and an apparently nor- mean adult height of the 22 XXGD patients mal karyotype.' Consequently, affected sub- was 164-3 cm (SD 7-7) (range 148 to 175 cm) jects of both sexes have gonadal steroid and that of the 24 XYGD patients was deficiency irrespective of sex chromosome 172-0 cm (SD 7 0) (range 156 to 183 cm). This complement. Thus, it is believed that pheno- height difference of 7-7 cm was also significant typic differences between XXGD and XYGD (p<0 01). Between the two subgroups, the http://jmg.bmj.com/ are directly caused by the difference in sex distribution of ages was comparable (XXGD, chromosome complement, independently of mean 26-5 years, range 20 to 37; XYGD, mean the effects of gonadal sex steroids. On the basis 26-4, range 20 to 38) but that of publication of this notion, we compared adult heights years was statistically different (XXGD, mean between patients with XXGD and those with 1967, range 1961 to 1971; XYGD, mean 1972, XYGD. range 1964 to 1984) (p < 0 05), implying a small influence of secular height change (about on September 28, 2021 by guest. Protected copyright. 0 5 to 1-0 cm) on the adult height difference. Methods This investigation was based on height data of published cases of patients with XXGD and Discussion those with XYGD. The selection criteria used The present study showed a significant dif- were: (1) apparently normal karyotype, (2) ference in the mean adult height between morphological confirmation of streak gonad XXGD and XYGD patients. This adult either in the patient or in her affected family height difference is considered to be a direct members, (3) lack of apparent Turner stig- consequence of a growth promoting effect of Human Molecular the Y chromosome. This notion is supported Genetics Laboratory, mata, (4) recorded height obtained between 20 by the fact that patients with 47,XYY are taller Imperial Cancer and 50 years of age, (5) no description of sex Research Fund, PO than normal 46,XY males.35 In contrast, the Box 123, Lincoln's Inn steroid therapy before 20 years of age, and (6) possibility that the X chromosome has a Fields, London absence of other associated disorders that may growth suppressing effect is excluded by the WC2A 3PX. affect statural growth. T Ogata fact that patients with 45,X are invariably The adult height (mean (SD)) was compared short36 and those with 47,XXX tend to be Department of before and after excluding non-Caucasian tall.37 Paediatrics, Keio patients to allow for the influence of racial University School of If the Y chromosome is responsible for the Medicine, Tokyo 160, height variation. Statistical significance was adult height difference between XXGD and Japan. determined by the two tailed t test. In addi- XYGD patients, it is expected that a growth N Matsuo tion, the age and the publication year were gene(s) unrelated to gonadal sex steroids exists Correspondence to Dr compared between XXGD and XYGD in the Y specific region. In this context, non- Ogata. patients using Wilcoxon's rank-sum test, to mosaic adult patients with 46,X,del(Yq) are Received 1 November 1991. Revised version accepted examine the influence of secular height change informative: in spite of a similar male sex 24 January 1992. (about 1 to 2 cm per decade).'2 development, those with apparently large Yq 540 Ogata, Matsuo deletions had short stature3'-40 and those with patients allowed the height comparison in a apparently small Yq deletions did not have more homogeneous population, intra-Cauca- short stature.4'-5 This finding is compatible sian height variation still exists.25055 Further- J Med Genet: first published as 10.1136/jmg.29.8.539 on 1 August 1992. Downloaded from with the presence of a Y specific growth more, no parental height was available in the gene(s) which promotes statural growth inde- published reports, nor was there any indica- pendently of the effects of gonadal sex steroids, tion of socioeconomic status. Thus, it is uncer- although other mechanisms may also contri- tain at this time whether the adult height bute to the growth failure associated with large difference between XXGD and XYGD chromosomal deletions. In agreement with patients (about 7 cm) is totally attributable to this view, recent molecular analysis in patients the Y specific growth gene(s). Further ac- with Y chromosome aberrations has also ar- cumulation of patients will be required for the gued for the presence of the growth gene(s) in more precise estimation of the quantitative the proximal part of Yq.46 Although another effect of the Y specific growth gene(s). growth gene(s) has been suggested on the tip of Yp distal to the testis determining gene,47 The authors are grateful to Dr Peter Goodfel- genotype-phenotype correlations in patients low, Laboratory of Human Molecular Gen- with sex chromosome abnormalities have indi- etics, Imperial Cancer Research Fund, for his cated that the growth gene(s) on the tip of Yp invaluable advice on this work. is not Y specific but pseudoautosomal.4549 1 Grumbach MM, Conte FA. Disorders of sexual differentia- Our results suggest that the putative Y spe- tion. In: Wilson JD, Foster DW, eds. Williams textbook of cific growth gene(s) may exert an influence of endocrinology. 7th ed. Philadelphia: Saunders, 1985:312- 401. about 7 cm on adult height. This value is in 2 Prader A, Largo RH, Molinali L, Issler C. Physical growth close agreement with the adult height dif- of Swiss children from birth to 20 years of age. Helv ference between normal males cm Paediatr Acta 1989;suppl 52:1-125. (174-7 (SD 3 Bielicki T. Physical growth as a measure of the economic 6 7))50 and SRY positive XX males (166-1 cm well-being of populations: the twentieth century. In: n = 20 to 50 of in the Falkner F, Tanner JM, eds. Human growth. 2nd ed. New (SD 3 3), 8, years age)5' York: Plenum, 1985:283-305. United Kingdom. Since the SRY positive XX 4 van Wieringen JC. Secular growth changes. In: Falkner F, normal external indicative Tanner JM, eds. Human growth. 2nd ed. New York: males have genitalia Plenum, 1985:307-31. of sufficient testosterone secretion5' and are 5 Jacobs PA, Harnden DG, Buckton KE, et al. Cytogenetic expected to have two copies of the pseudoauto- studies in primary amenorrhea. Lancet 1961;i: 1183-8. 6 Ferguson-Smith MA, Alexander DS, Bowen P, et al. Clini- somal growth gene(s), the height decrease of cal and cytogenetical studies in female gonadal dysgenesis can be as a loss and their bearing on the cause of Turner's syndrome. the XX males simply explained Cytogenetics 1964;3:355-83. of the Y specific growth gene(s). In addition, it 7 Kinch RAH, Plunkett ER, Smout MS, Carr DH. Primary is known that patients with testicular feminisa- ovarian failure: a clinicopathological and cytogenetic study. Am J Obstet Gynecol 1965;91:630-44. tion syndrome (TFS) are 5 to 10 cm taller than 8 Boczkowski K, Teter J. Clinical, histological and cytogene- normal similar sex tic observations in pure gonadal dysgenesis. Acta Endocri- females, despite having nol (Copenh) 1966;51:497-510. steroid hormone status.5254 This height in- 9 Serment Piana Bossi Felce Har- H, Lafargue P, L, G, A, http://jmg.bmj.com/ crease of TFS is also the tung M. Essai de classification des insuffisances ovar- patients explicable by iennes primitives. Rev Fr Endocrinol Clin 1966;7:461-86. effect of the Y specific growth gene(s). 10 Greenblatt RB, Byrd JR, McDonough PG, Mahesh VB. The adult difference between XXGD The spectrum of gonadal dysgenesis. Am J Obstet Gynecol height 1967;98:151-72. and XYGD patients was smaller than that 11 Board JA, Estep HL, Young RB, Borland DS.
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