Turner syndrome: an update

M Steiner, P Saenger - Advances in Pediatrics, 2022 - advancesinpediatrics.com
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New insights into the genetic basis of infertility

T Venkatesh, PS Suresh, R Tsutsumi - The application of clinical …, 2014 - Taylor & Francis
Infertility is a disease of the reproductive system characterized by inability to achieve
pregnancy after 12 or more months of regular unprotected sexual intercourse. A variety of …

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

ML Ljubicic, A Jørgensen, C Acerini… - The Journal of …, 2019 - academic.oup.com
Context Larger studies on outcomes in males with 45, X/46, XY mosaicism are rare.
Objective To compare health outcomes in males with 45, X/46, XY diagnosed as a result of …

408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing

GB De Paula, BA Barros, S Carpini… - International journal …, 2016 - Wiley Online Library
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with
disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective …

The clinical manifestation and genetic evaluation in patients with 45, X/46, XY mosaicism

Q Wu, C Wang, H Shi, X Kong, S Ren, M Jiang - Sexual Development, 2017 - karger.com
Abstract 45, X/46, XY mosaicism is a rare chromosomal abnormality and probably
underdiagnosed. Although clinical and genetic analyses have been performed in some …

Clinical findings and follow-up of 46, XY and 45, X/46, XY testicular dysgenesis

JGR Andrade, H Fabbri-Scallet, AP Dos Santos… - Sexual …, 2020 - karger.com
Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used
to describe incomplete testicular differentiation in individuals with 46, XY or 45, X/46, XY …

Disorders of sex development and female reproductive capacity: A literature review

H Hosseinirad, P Yadegari… - Systems biology in …, 2021 - Taylor & Francis
Disorders of sex development (DSD) are a wide-ranging group of complex conditions that
influence chromosomal, gonadal, and phenotypic sex. The prevalence of DSD is very low …

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY

PH Vogt, B Besikoglu, M Bettendorf… - Human …, 2019 - academic.oup.com
Abstract STUDY QUESTION Which Y genes mapped to the 'Gonadoblastoma Y (GBY)'locus
on human Y chromosome are expressed in germ cells of individuals with some Differences …

[HTML][HTML] High frequency of Y chromosome microdeletions in male infertility patients with 45, X/46, XY mosaicism

L Li, H Zhang, Y Yang, H Zhang, R Wang… - Brazilian Journal of …, 2020 - SciELO Brasil
The mosaic 45, X/46, XY karyotype is a common sex chromosomal abnormality in infertile
men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but …

[HTML][HTML] Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study

M Arumugam, DP Shetty, JS Kadandale… - International Journal of …, 2021 - ncbi.nlm.nih.gov
Background Infertility affects about 15% of couples worldwide, and the male factor alone is
responsible for approximately 50% of the cases. Genetic factors have been found to play …