Titlebook: Genetic Testing in Reproductive Medicine; Rajender Singh Textbook 2023 The Editor(s) (if applicable) and The Author(s), under exclusive li

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Genetic Testing in Disorders of Sexual Development,letely reversed genitalia and phenotypes, which contrast with the chromosome complement of the individual. The underlying reasons could be chromosomal disorders, gene dosage, gene mutations, or exposures to high doses of the cross-sex hormones. Chromosomal DSDs due to aneuploidies include Turner syn

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Y-Chromosome Deletion Testing in Infertility,ead to spermatogenic arrest, which can produce phenotypes ranging from mild oligozoospermia to azoospermia. Y-deletions account for approximately 14% of infertile individuals. Y-deletion analysis has been recommended by the European Academy of Andrology (EAA), and the European Molecular Genetics Qua

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Sperm DNA Fragmentation Testing in Infertility, The extent of DNA fragmentation can vary widely, from mild to severe, and can be caused by a number of factors, including oxidative stress (OS), environmental toxins, and genetic abnormalities. SDF testing can help identify potential fertility issues even in men who have normal semen parameters or

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Microbiome Testing in Male Infertility,tor. The explosion in the “-ics” fields, including genomics, epigenetics, proteomics, metabolomics, and recently microbiomics, has shed light at molecular and metabolic levels on unknown causes of various infertility problems. The microbiota is mainly a community of bacteria, viruses, and fungi and

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Genetic Testing in Polycystic Ovary Syndrome,te gene studies have shown that PCOS is a complex, multifaceted disorder with a significant contribution from genetic factors. PCOS genetics has been investigated by 52 case-control and 8 GWAS studies. (TTTTA). polymorphic repeat, rs4077582 C>T, rs11632698 A>G, and rs4887139 G>A polymorphisms in the

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Genetic Testing in Premature Ovarian Failure,ses early oocyte depletion and the start of menopause. Amenorrhea, a review of the family history going back at least three generations, a pelvic sonogram, and a serum FSH level > 40 mIU/ml are all used to diagnose POF illness. The 2016 guidelines from the European Society of Human Reproduction and

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