An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Mekkawy, Mona; Guindi, A. M. el; Mazen, Inas; Fayez, Alaaeldin; Mohamed, Amal M.; Kamel, Alaa K.

doi:10.1007/s10815-018-1211-8

Cited by 2 publications

(3 citation statements)

References 40 publications

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“…Some studies have illustrated that about 80%–90% of Xp‐Yp translocations can account for 46, XX SRY positive male sexual inversion syndrome 2,3 . The atypical localizations of the sex‐determining region Y (SRY) gene have been reported at the terminal of the long arm of chromosome X, 1, and 16, 4–6 also occasionally at the short arm of chromosomes 3, 6, 14, and 18 7–10 …”

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confidence: 99%

“…2,3 The atypical localizations of the sex-determining region Y (SRY) gene have been reported at the terminal of the long arm of chromosome X, 1, and 16, 4-6 also occasionally at the short arm of chromosomes 3, 6, 14, and 18. [7][8][9][10] The incidence of XX males in humans is 1 in 20,000-30,000 male newborns. 11 XX males can be divided into SRY positive group and SRY negative group according to the…”

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confidence: 99%

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An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

Zhai

et al. 2022

Clinical Case Reports

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INTRODUCTION46, XX male sex reversal syndrome is characterized by gonadal dysplasia after puberty, azoospermia, sterility, high-level gonadotropin, and sex chromosome aberration, which was first defined and reported in 1964. 1 Some studies have illustrated that about 80%-90% of Xp-Yp translocations can account for 46, XX SRY positive male sexual inversion syndrome. 2,3 The atypical localizations of the sex-determining region Y (SRY) gene have been reported at the terminal of the long arm of chromosome X, 1, and 16, 4-6 also occasionally at the short arm of chromosomes 3, 6, 14, and 18. [7][8][9][10] The incidence of XX males in humans is 1 in 20,000-30,000 male newborns. 11 XX males can be divided into SRY positive group and SRY negative group according to the

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

Zhai

et al. 2022

Clinical Case Reports

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“…Clinical presentation can be varied depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. Children can have a typical male phenotype or present with stature abnormality and/or infertility in adult life ( 2 , 3 , 4 ). Detailed molecular genetics will often reveal 45,X/46,XY mosaic cell line.…”

Section: Introductionmentioning

confidence: 99%

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

Suntharesan

Apperley

Senniappan

2022

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploinsufficiency of genes which are normally expressed in both X and Y chromosomes. The presence of the sex-determining region Y (SRY) gene leads to the differentiation of bipotential gonads to testis. Most individuals go through puberty normally, but some may need pubertal induction for delayed puberty. Rarely some can have a pubertal arrest. The risk of gonadoblastoma is minimal in these individuals due to functioning testicular tissue. The azoospermia factor (AZF) region is found on the long arm of the Yq chromosome and is needed for spermatogenesis. In a 45,X male with unbalanced translocation of Y chromosome, spermatogenesis can be affected due to the lack of AZF leading to Sertoli cell-only syndrome. This will have an implication on fertility in adult life. We present a 14-year-old boy with developmental delay, learning difficulties and subtle dysmorphic features who was diagnosed with 45,X,der(2)t(Y:2)(?:p25). Fluorescence in situ hybridisation analysis revealed translocation of SRY (Yp11.3) to the terminal part of the short arm of chromosome 2 resulting in the deletion of most of the Y chromosome (Yp11.2-q12) and part of chromosome 2(2p25.3). This is the first case where SRY translocation to chromosome 2 presents with the above clinical presentation. Learning points 45,X karyotype is rare in male. It may occur due to SRY translocation or an insertion to X/autosome. SRY gene translocation to chromosome 2 has been not reported in the literature. Clinical presentation can be varied due to degree of loss of chromosomal material. Due to loss of AZF region found on the long arm of the Yq, spermatogenesis can be affected. Loss of 2p25 leads to learning difficulty and obesity.

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An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Cited by 2 publications

References 40 publications

An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

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