Molecular analysis of the Y chromosome in XX sex-reversed patients

Черных, В. Б.; Чухрова, А. Л.; Wasserman, N. N.; Il’ina, E. V.; Karmanov, M E; Федотов, В. П.; Курило, Л. Ф.; Polyakov, A. V.

doi:10.1134/s1022795408020129

Cited by 3 publications

(5 citation statements)

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“…The mutations of sex chromosomes themselves can have various phenotypic manifestations, from the normal phenotype and reproductive functions to severe forms of sexual development disorders and infertility. It depends on the type of mutation and its severity, the ratio of cells in mosaicism, the presence of certain types of structural rearrangements of gonosomes (isodicentric chromosomes X and Y with break points in the distal part of PAR1, isodicentric Yp chromosomes with breakpoints in Yq12 or the distal part of the long arm euchromatin, locus Yq11.23) [10].…”

Section: The Discussion Of the Resultsmentioning

confidence: 99%

“…In almost all postnatal cases, phenotypic changes in disorders of sex formation or reproduction were noted, whereas in 90% of prenatal cases, normally developed male genitalia were noted in fetuses [13]. For several structural rearrangements of the Y chromosome, pronounced phenotypic variability (clinical polymorphism) is shown, which is due to the preservation of its short arm (Yp), in particular the SRY gene, and/or the long arm (Yq), as well as the presence, type, and severity of mosaicism [10].…”

Section: The Discussion Of the Resultsmentioning

confidence: 99%

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The Jacobs Syndrome: Clinical Case

Tkachuk,

Kurenkova

2024

OBM Genet

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This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is one of the most common chromosomal abnormalities, ranking third after Down syndrome and Klinefelter syndrome. It is often found that this pathology results in anomalies in genital development. A Y-chromosome polysomy is associated with variable phenotypic manifestations in gonadal development disorders.

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Section: The Discussion Of the Resultsmentioning

confidence: 99%

Section: The Discussion Of the Resultsmentioning

confidence: 99%

The Jacobs Syndrome: Clinical Case

Tkachuk,

Kurenkova

2024

OBM Genet

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“…It was supposed that the size of the retained Yp fragment correlates with the degree of masculinization [Ferguson-Smith et al, 1990;Boucekkine et al, 1994]. However, evidently it is not a major phenotype-determining factor in XX sex reversed patients [Sharp et al, 2005;Chernykh et al, 2008a].…”

Section: Discussionmentioning

confidence: 99%

“…Reaction mixtures and PCR conditions were as described previously [Chernykh et al, 2008a]. The products were separated in 7% acrylamide gel and stained with 0.1 g/ml ethidium bromide in 1 !…”

Section: Pcr Analysis For Y-specific Locimentioning

confidence: 99%

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Hidden X Chromosomal Mosaicism in a 46,XX Male

Черных¹,

Курило²,

Shilova³

et al. 2009

Sex Dev

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We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia. In situ hybridization revealed the presence of 3 SRY-positive cell lines bearing 1, 2 or 3 X chromosomes. Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene.

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Genetic and semen examination of patients with 46,XX testicular disorder of sex development

Shtaut

Сорокина

Курило

et al. 2023

Androl. genit. hir.

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Background. 46,XX male syndrome (XX sex reversal) or 46,ХХ testicular disorder of sex development (DSD) – a genetic disorder that characterized by primary hypogonadism and male infertility because of severe spermatogenesis defects. 46,XX testicular DSD is resulted from unbalanced microstructural sex chromosome abnormalities, mostly X-Y translocations involving SRY gene. Genetic heterogeneity and phenotypic variability, particularly the effect of the genotype on semen parameters in XX sex reversed patients are not sufficiently studied.Aim. Genetic and semen examination in patients with 46,ХХ testicular DSD.Materials and methods. 32 patients with 46,XX testicular DSD and 2 men with mosaicism 46,XX/46,XY were examined. Cytogenetics, molecular genetics and spermatology examination (standard semen analysis and quantitative karyological analysis of immature germ cells) were performed.Results. The presence of the SRY gene was detected in 23 (82.1 %) of 28 patients who underwent a molecular genetic study, and 5 patientswere SRY-negative. Azoospermia and severe oligozoospermiawere diagnosed in 24 (75 %) and 8 (25 %) patients, respectively. Quantitative karyological analysis of immature germ cells allowed to reveal cryptozoospermia in 3 patients with initially diagnosed azoospermia (according to a standard semen analysis). Severe oligozoospermia and cryptozoospermia were mentioned both in some of SRY-positive and SRY-negative patients.Conclusion. 46,XX testicular DSD is characterized by severe degree of spermatogenesis defects (azoospermia and extremely severe oligozoospermia). Small number of germ cells detected in ejaculate in some patients with 46,XX testicular DSD, including SRY-negative individuals, indicates partial preservation ofspermatogenesisin the absence of Y chromosome genes.

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Molecular analysis of the Y chromosome in XX sex-reversed patients

Cited by 3 publications

References 30 publications

The Jacobs Syndrome: Clinical Case

The Jacobs Syndrome: Clinical Case

Hidden X Chromosomal Mosaicism in a 46,XX Male

Genetic and semen examination of patients with 46,XX testicular disorder of sex development

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