Males with an XYY sex chromosome complement.

Brown, William

doi:10.1136/jmg.5.4.341

Cited by 127 publications

(6 citation statements)

References 46 publications

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“…This notion is supported by the fact that patients with 47,XYY are taller than normal 46,XY males. 35 In contrast, the possibility that the X chromosome has a growth suppressing effect is excluded by the fact that patients with 45,X are invariably short36 and those with 47,XXX tend to be tall.37 If Our results suggest that the putative Y specific growth gene(s) may exert an influence of about 7 cm on adult height. This value is in close agreement with the adult height difference between normal males (174-7 cm (SD 6 7))50 and SRY positive XX males (166-1 cm (SD 3 3), n = 8, 20 to 50 years of age)5' in the United Kingdom.…”

Section: Discussionmentioning

confidence: 66%

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

Ogata

Matsuo

1992

Journal of Medical Genetics

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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.

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Section: Discussionmentioning

confidence: 66%

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

Ogata

Matsuo

1992

Journal of Medical Genetics

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“…This hypothesis of one or more Y-borne structural genes influencing linear growth was generally supported by comparing the heights in patients with supernumerary Y-chromosomes (Court Brown 1968;de la Chapelle 1972). Additional support was provided in male and female patients with gonadal sex steroid-independent adult height differences (Smith et al 1985;Ogata and Matsuo 1992).…”

Section: Introductionmentioning

confidence: 90%

Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

et al. 2004

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The human Y chromosome has been predicted to harbour a locus termed GCY, affecting height in males. GCY has been positioned by deletion mapping to the pericentromeric region on the long arm of the Y chromosome. As the relevant gene has not been identified yet, we have carried out exon amplification and isolated nine different exon trap clones within the critical region. Gene prediction programs have proposed 17 different gene models and standard BLASTN searches with the genomic sequence detected significant homologies to six known genes/pseudogenes or expressed sequence tags. Large-scale cDNA library screening and reverse transcription of polyA(+) RNAs, however, could not demonstrate unequivocally the existence of a novel transcriptional unit. All potential transcriptional units are embedded in subintervals of the GCY critical region that have been transposed to the human Y during different stages of primate evolution. These results challenge our present view on the Y-chromosomal stature locus GCY, proposing the existence of an unusual gene with an extremely confined spatial and/or temporal expression pattern, albeit the structural impact of the nearby pericentromeric heterochromatin should not be excluded.

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“…The fertility of these individuals is controversial. Some reports showed that often there is no significant difference between XYY males and control groups with regard to the number of children, and the children of XYY males were as healthy as those of the control group [69,70]. This explains why usually this condition is discovered only in adults.…”

Section: Disomy Of the Ymentioning

confidence: 99%

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Signore

Gulìa

Votino

et al. 2019

Genes

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The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30-40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome.

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Males with an XYY sex chromosome complement.

Cited by 127 publications

References 46 publications

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

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

Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

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