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

@article{MohammadpourLashkari2018ClinicalAO,
  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},
  journal={Andrologia},
  year={2018},
  volume={50}
}
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… 

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References

SHOWING 1-10 OF 32 REFERENCES

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

TLDR
It is concluded that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk for abnormal gonadal histology, and long-term follow-up studies are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.

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

TLDR
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.

TLDR
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

TLDR
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.

TLDR
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

TLDR
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.

TLDR
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.

TLDR
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

TLDR
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.