Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Davis, Ruth

doi:10.1136/jmg.18.3.161

Cited by 137 publications

(55 citation statements)

References 216 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, in the case under study, ambiguous external genitalia and hypospadias might be due to mosaicism with 45,X cell line and correlates with previous report (Yanagisawa, 1980). Majority of the earlier cases reported (Davis, 1981;Rosenberg et al, 1987;Casperson et al, 1971;Ayuso et al, 1984;Wheeler et al, 1988) showed neither normal male nor female external genitalia with gonads of either sex.…”

Section: Discussionsupporting

confidence: 68%

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

1991

View full text Add to dashboard Cite

SummaryA 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed both 45,X/46,X inverted Y (pll.2qll.23) cell-lines (98:2). The inverted Y was found to be of paternal origin. Maternal chromosomal pattern was normal 46,XX. The presence of a fallopian tube next to testis suggest absence of secretion of anti-Mullerian hormone by Sertoli cells. The absence of Wolffian duct derivatives suggest insufficient secretion of testosterone by Leydig cells.

show abstract

Section: Discussionsupporting

confidence: 68%

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

1991

View full text Add to dashboard Cite

show abstract

“…6,[9][10][11] It has been established that the male inducing/determining factor or the locus (loci) is at the Yp11 band. 2,3,12 In our patient, this band was intact, which was responsible for the male phenotype. The presence of different cell lines does not seem to have a major effect on the phenotype, except for the short stature, which could be due to considerable proportion of cells with 45,X, a feature consistent with Turner syndrome.…”

Section: Discussionmentioning

confidence: 93%

“…2,3 The origin of various cell lines could be attributed to post-zygotic events of chromosome breakage, nondisjunction, and somatic recombination. 4 The presence of 46,XY cell line in our case confirms the postzygotic nondisjunction events as the cause for structural rearrangements.…”

Section: Discussionmentioning

confidence: 99%

Structural Abnormalities of the Y Chromosome Associated with Hypospadias, Infertility, and Short Stature

et al. 1989

View full text Add to dashboard Cite

The precise role of the Y chromosome or the gene(s) on the Y chromosome in the differentiation of the gonad (testis) is well established. To determine the phenotype-karyotype correlations, a number of cases with structural aberrations (deletions, translocations) of Y chromosome with varying degrees of clinical manifestations have been described. However, a direct correlation of the phenotype-karyotype presents disadvantages in cases of mosaicism and unusual multiple structural aberrations of the Y chromosome. Several cases of Y chromosomal abnormalities reported have suggested that one or more genes on the Y chromosome induce the undifferentiated gonad to develop into a testis; subsequent development is controlled by the action of hormones.Recently the gene(s) responsible for male determination has been located at the middle third of the Y short arm.1 Our aim here is to report on a rare case with unusual structural Y abnormalities and discuss its clinical significance. Case ReportA 33-year-old Arab man was investigated for primary infertility after 9 years of marriage. Family history was unremarkable. He was one of twins (his twin brother died soon after birth). His first seminal emission was at the age of 15. He had penile hypospadias for which surgical correction was carried out.Physical examination showed a masculine habitus, weighing 78 kg, 148 cm in height, and 157 cm in span. He showed mild facial asymmetry with diverted nasal bridge and short neck, facial and body hair was normal male type, and there was no gynecomastia. He showed normal phallus with urethral opening situated below the glans. Testes were small (5 ml), beaded, and firm. Semen analysis showed azoospermia.Hormone profile indicated primary gonadal failure. The values were luteinizing hormone, 11.0 IU/L (normal, 2.2 to 12.0 IU/L); follicle stimulating hormone, 18.4 IU/L (0.9 to 9.8 IU/d); prolactin, 284 mIU/L (60 to 380 mIU/L); and testosterone, 12.0 nmol/L (10.5 to 35.0 nmol/L).The patient refused gonadal biopsy. Skeletal radiographs and ultrasonography of the abdominal organs and pelvis showed no abnormalities.Chromosomal analysis of 470 metaphase spreads using GTC, QFQ, and C-NaOH banding techniques revealed a variety of Y-chromosome configurations in variable percentages with normal 46,XY and 45,X cell lines (Table 1)

show abstract

“…At least three major genes, such as azoospermia, growth control Y and amelogeninlike, have been mapped on the proximal part of long arm of the Y chromosome (Weissenbach et al, 1989). It has been suggested that the azoospermia factor might locate at the Yq distal euchromatic/heterochromatic interface, since the patients showed no other clinical abnormality (see reviews Davis, 1981;Biihler, 1985). Our findings seem to support this hypothesis, although further studies are needed by using both cytogenetic and molecular techniques to define the deleted region and relate it to the azoospermia.…”

Section: Resultsmentioning

confidence: 99%

“…Chromosome abnormalities in infertile men were detected mainly in the sex chromosomes. Further studies on Y chromosome abnormalities have indicated that the defects in spermatogenesis are associated with deletion of the Y chromosome (see reviews Davis, 1981;BiJhler, 1985).…”

Section: Introductionmentioning

confidence: 99%

Chromosome abnormalities and rare fragile sites detected in azoospermia patients

Seki¹,

Sumiya

Shimazaki

et al. 1992

Jap J Human Genet

View full text Add to dashboard Cite

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Cited by 137 publications

References 216 publications

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

Structural Abnormalities of the Y Chromosome Associated with Hypospadias, Infertility, and Short Stature

Chromosome abnormalities and rare fragile sites detected in azoospermia patients

Contact Info

Product

Resources

About