Male Factor Infertility: Clues to Diagnose 46, XX Male

Chakraborty, Partha Pratim; Bhattacharjee, Rana; Roy, Ajitesh; Mukhopadhyay, Satinath; Chowdhury, Subhankar

doi:10.1007/s13224-015-0791-9

Cited by 4 publications

(1 citation statement)

References 4 publications

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“…They usually demonstrate ambiguous external and internal genitalia and have ovary and/or testes and/or ovotestes as the gonads [2,3]. There are ninety percent of these patients having Y chromosomal material including the SRY (Sex determining region of Y chromosome) gene [4]. The rest of XX males are SRY negative with different degrees of masculinization [5].…”

Section: Introductionmentioning

confidence: 99%

An Infertility SRY-Negative 46, XX Male Detected by Quantitative Fluorescent Polymerase Chain Reaction

Nguyen¹,

Kien²,

Nhuan³

et al. 2017

J Clin Case Rep

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Taking a frequency of 1 in 20,000-25,000 males, De la Chappelle syndrome (46, XX male) is a rare syndrome which exists in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. A case of SRY-negative XX male is reported with complete masculinization but with infertility. The patient was mature enough to have full genitalia with descended but small testes and no signs of undervirilization. There were 14 markers in the quantitative fluorescent polymerase chain reaction (QF-PCR): amelogenin gene, presented on X and Y chromosomes allows for the determination of the Y/X ratio (AMEL marker), TAF9B gene presented on chromosomes X and 3 permits the determination of X/chromosome 3 ratio (TAF9B marker or T3 marker), ten non-polymorphic Y-specific markers (SRY, sY84 and sY86 in AZFa region, sY127 and sY134 in AZFb region, sY254, sY255, sY1191, sY1192 and sY1291 in AZFc region), and co-amplification of DAZ/DAZL and CDY2/CDY1 fragments that permit determination of the DAZ, CDY1 and CDY2 gene copy number. The study resulted that there were only two peaks of markers: AMELX/Y marker produced a peak area ratio of 1:0 and T3 with the ratio of 2:2, indicating the presence of two X chromosomes in this case. The absence of the Y chromosome was confirmed when repeating peripheral blood culture for chromosome: there are 46 chromosomes with XX constitution. The first reported case in Mekong Delta, Vietnam is reported of a SRY-negative 46, XX male with normal male phenotype and infertility.

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Section: Introductionmentioning

confidence: 99%

An Infertility SRY-Negative 46, XX Male Detected by Quantitative Fluorescent Polymerase Chain Reaction

Nguyen¹,

Kien²,

Nhuan³

et al. 2017

J Clin Case Rep

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Chromosome Abnormalities and the Infertile Male

Krausz¹,

Rosta²

2020

Male and Sperm Factors That Maximize IVF Success

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Male infertility due to testicular disorders

Sharma

Minhas

Dhillo

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Male infertility is defined as the inability to conceive following 1 year of regular unprotected intercourse. It is the causative factor in 50% of couples and a leading indication for assisted reproductive techniques (ART). Testicular failure is the most common cause of male infertility, yet the least studied to date. Evidence Acquisition The review is an evidence-based summary of male infertility due to testicular failure with a focus on etiology, clinical assessment, and current management approaches. PubMed-searched articles and relevant clinical guidelines were reviewed in detail. Evidence Synthesis/Results Spermatogenesis is under multiple levels of regulation and novel molecular diagnostic tests of sperm function (reactive oxidative species and DNA fragmentation) have since been developed, and albeit currently remain as research tools. Several genetic, environmental, and lifestyle factors provoking testicular failure have been elucidated during the last decade; nevertheless, 40% of cases are idiopathic, with novel monogenic genes linked in the etiopathogenesis. Microsurgical testicular sperm extraction (micro-TESE) and hormonal stimulation with gonadotropins, selective estrogen receptor modulators, and aromatase inhibitors are recently developed therapeutic approaches for men with the most severe form of testicular failure, nonobstructive azoospermia. However, high-quality clinical trials data is currently lacking. Conclusions Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in “idiopathic” male infertility and long-term follow-up studies of babies conceived through ART.

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Male Factor Infertility: Clues to Diagnose 46, XX Male

Cited by 4 publications

References 4 publications

An Infertility SRY-Negative 46, XX Male Detected by Quantitative Fluorescent Polymerase Chain Reaction

An Infertility SRY-Negative 46, XX Male Detected by Quantitative Fluorescent Polymerase Chain Reaction

Chromosome Abnormalities and the Infertile Male

Male infertility due to testicular disorders

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