Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series

  title={Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series},
  author={F Mohammadpour Lashkari and Mohammad Ali Sadighi Gilani and Azadeh Ghaheri and Mohammadreza Zamanian and Parinaz Borjian Boroujeni and Anahita Mohseni Meybodi and Marjan Sabbaghian},
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance… 

SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature

This case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination, suggesting that sex determination is a complex process regulated by multiple genetic and environmental factors.

45,X/46,XY Mosaicism with Male Phenotype: Case Report

A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients.

45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype

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Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

The need to identify and follow-up 45,X/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies, is emphasized.

Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis.

Most patients with 45,X/46,XY diagnosed due to either genital abnormalities at birth or non-genital reasons later in life have relatively good endocrine gonadal function, but most are also short statured.

A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality

This study is the first to report showing that 46,Y, t(X; 1) (q28; q21) chromosomal abnormalities are associated with azoospermia.

Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism

Serum INSL3 concentrations ranged and seemed independent of other reproductive hormones and clinical features in males with 45,X/46,XY mosaicism, and Discordant expression of InSL3 and CYP11A1 may explain low INSL 3 and normal testosterone concentrations in some patients.

The Genetic Causes of Male Infertility in Iranian Population; A systematic Review

It seems that the first line of genetic diagnosis in Iranian male infertility is similar to Global One and will provide valuable visions into the development of targeted personalized treatments for patients and the ascertainment of the reasons of idiopathic infertility.

Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

To evaluate the growth data, gonadal functions and tumour risk in children with 45, X/46, XY mosaicism, a large number of patients with mosaicism have had at least one tumour removed.

Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality

This is the first report in China that X chromosomal inversion, 46, Y, inv (X) (p22.3, q22), is associated with severe oligozoospermia, and this inversion may be a direct genetic risk factor for spermatogenesis.



The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.

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45,X/46,XY mosaicism: a cause of short stature in males

Boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

45,X/46,XY gonadal dysgenesis in an infertile adult male.

A 33-year-old male referred for infertility was diagnosed with dysgenetic testes with complete epididymis, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography.

45,X/46,XY Mosaicism: Report of 27 Cases

The presence in 7 histologically analyzed streak gonads of a homogeneous 45,X chromosomal complement suggests that the invasion of the primitive genital ridge by a such a cell line may induce abnormal gonadal development, indicating the importance of an accurate clinical and histologic evaluation of any patient presenting with 45, X/46,XY mosaicism.

Chromosomal abnormalities and polymorphisms in infertile men.

The high prevalence of chromosomal abnormalities observed in infertile men justify the use of karyotyping to evaluate males enrolled in new assisted reproductive technologies programs.

Y‐chromosome microdeletions in 45,X/46,XY patients

The presence of Y-chromosome microdeletions in the AZF regions both on PBLand gonadal-DNA from two patients with 45,X/46,XY karyotype was tested and showed a broad spectrum of clinical phenotype ranging from women with or without Turner syndrome phenotype and bilateral streak gonads.

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.

45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual, and these observations have important implications for early recognition of these patients and their appropriate management.

Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia.

The high rate of chromosomal anomalies among infertile men strongly suggests the need for routine cytogenetic analysis prior to employment of assisted reproduction techniques.

Children with 45,X/46,XY Karyotype from Birth to Adult Height

X/XY children, similar to girls with Turner syndrome, benefit from growth hormone treatment, and deficiencies of both hypothalamic gonadal axis and primary gonadal function appear to play a role in their growth deceleration.