Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).

Abstract

Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171-0 cm (SD 7-8), n= 27) was significantly greater than that of XXGD patients (164-4cm (7-7), n=27) (p<001). This finding supports the existence of a Y specific growth gene(s) which promotes statural growth independently of the effects of gonadal sex steroids.Pure XX gonadal dysgenesis (XXGD) and XY gonadal dysgenesis (XYGD) are disorders of sexual development characterised by a rudimentary streak gonad and an apparently normal karyotype.' Consequently, affected subjects of both sexes have gonadal steroid deficiency irrespective of sex chromosome complement. Thus, it is believed that phenotypic differences between XXGD and XYGD are directly caused by the difference in sex chromosome complement, independently of the effects of gonadal sex steroids. On the basis of this notion, we compared adult heights between patients with XXGD and those with XYGD. ResultsTwenty-seven patients were identified for both XXGD9'8 and XYGD.78151>34 The mean adult height was 164-4 cm (SD 7-7) (range 148 to 180 cm) for the patients with XXGD and 171O0cm (SD 78) (range 150 to 183 cm) for those with XYGD. This adult height difference of 6-6 cm was statistically significant (p < 0 01). Between the two groups, the distribution of ages was comparable (XXGD, mean 25-9 years, range 20 to 37; XYGD, mean 26-2 years, range 20 to 38) as was that of publication years (XXGD, mean 1968(XXGD, mean , range 1961(XXGD, mean to 1982 XYGD, mean 1973 XYGD, mean , range 1964 XYGD, mean to 1984.Twenty-two patients with XXGD and 24 patients with XYGD appeared to be Caucasians of various nationalities; the remaining patients were two American blacks,"1 31 five 17 1830 rcn27Th South Americans, and one African. The mean adult height of the 22 XXGD patients was 164-3 cm (SD 7-7) (range 148 to 175 cm) and that of the 24 XYGD patients was 172-0 cm (SD 7 0) (range 156 to 183 cm). This height difference of 7-7 cm was also significant (p<0 01). Between the two subgroups, the distribution of ages was comparable (XXGD, mean 26-5 years, range 20 to 37; XYGD, mean 26-4, range 20 to 38) but that of publication years was statistically different (XXGD, mean 1967(XXGD, mean , range 1961(XXGD, mean to 1971 XYGD, mean 1972 XYGD, mean , range 1964 to 1984) (p < 0 05), implying a small influence of secular height change (about 0 5 to 1-0 cm) on the adult height difference.

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

“…Furthermore, their body heights were all under 165 cm (with an average of 161 cm), which is likely due to the lack of an appropriate T-dependent pubertal growth spurt [10] and Y-specific growth gene(s) mapped in the pericentromeric region of the Y chromosome [11]. …”

Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome

“…Therefore, investigation of the eight potential genes as candidates for human disease mapped to paralogous sequences of nonhomologous chromosomes might shed new light on human disorders. Especially, the search for the yet unknown stature (GCY) (Smith et al 1985;Ogata and Matsuo 1992) and gonadoblastoma locus on the Y chromosome (GBY) (Page 1987;Salo et al 1995;Tsuchiya et al 1995) might profit from the putative gene sequences provided in this study.…”

Localization of the Sex-Determining Region-Y Gene in Xx Males

“…In contrast with patients with Klinefelter syndrome, XX males are shorter than normal XY males. This is probably due to the absence of Yq-specific growth gene(s) [9] and to the lack of an appropriate testosterone-dependent pubertal growth spurt [1]. In case 1, however, short stature was observed before puberty.…”