Current and future genetic screening for male infertility

Turek, Paul J.; Pera, Renee A. Reijo

doi:10.1016/s0094-0143(02)00090-3

Cited by 23 publications

(4 citation statements)

References 154 publications

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“…This syndrome is caused by paternal nondisjunction during meiosis that results in YY sperm, occurring in approximately 1:1000 (92). These patients typically have a tall stature, demonstrate decreased intelligence and exhibit antisocial behavioral characteristics.…”

Section: Etiologies Of Azoospermiamentioning

confidence: 99%

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The epidemiology and etiology of azoospermia

Cocuzza¹,

Alvarenga²,

Pagani³

2013

Clinics

195

149

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The misconception that infertility is typically associated with the female is commonly faced in the management of infertile men. It is uncommon for a patient to present for an infertility evaluation with an abnormal semen analysis report before an extensive female partner workup has been performed. Additionally, a man is usually considered fertile based only on seminal parameters without a physical exam. This behavior may lead to a delay in both the exact diagnosis and in possible specific infertility treatment. Moreover, male factor infertility can result from an underlying medical condition that is often treatable but could possibly be life-threatening.The responsibility of male factor in couple's infertility has been exponentially rising in recent years due to a comprehensive evaluation of reproductive male function and improved diagnostic tools. Despite this improvement in diagnosis, azoospermia is always the most challenging topic associated with infertility treatment. Several conditions that interfere with spermatogenesis and reduce sperm production and quality can lead to azoospermia. Azoospermia may also occur because of a reproductive tract obstruction. Optimal management of patients with azoospermia requires a full understanding of the disease etiology. This review will discuss in detail the epidemiology and etiology of azoospermia. A thorough literature survey was performed using the Medline, EMBASE, BIOSIS, and Cochrane databases. We restricted the survey to clinical publications that were relevant to male infertility and azoospermia. Many of the recommendations included are not based on controlled studies.

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Section: Etiologies Of Azoospermiamentioning

confidence: 99%

“…Patients with mixed gonadal dysgenesis normally have a mosaic 45,X0/46,XY genotype and anatomically have a testis on one side and a streak gonad on the other (92). Although this is a rare syndrome, the normally formed testis is often cryptorchidic and devoid of viable germ cells.…”

Section: Etiologies Of Azoospermiamentioning

confidence: 99%

The epidemiology and etiology of azoospermia

Cocuzza¹,

Alvarenga²,

Pagani³

2013

Clinics

195

149

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“…In~50% this subfertility is due to impaired semen parameters (Hull et al, 1985;de Kretser, 1997;Evers, 2002). Although frequently suggested, evidence of a genetic aetiology of impaired spermatogenesis is scarce (Turek and Pera, 2002). The only accepted genetic causes of impaired spermatogenesis in men are numerical and structural chromosomal abnormalities and Y chromosome deletions (Maduro and Lamb, 2002).…”

Section: Introductionmentioning

confidence: 99%

Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis

Westerveld

Gianotten²,

Leschot³

et al. 2004

Molecular Human Reproduction

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The genetic cause of male subfertility due to impaired spermatogenesis is unknown in the majority of cases, but the general assumption is that it is a complex disorder. The aim of this study was to determine whether mutations occur in the HNRNP G-T gene in men with idiopathic impaired spermatogenesis. The heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) gene is located in chromosomal region 11p15 that has been shown to be associated with impaired spermatogenesis. It is a member of the hnRNP gene family and is predominantly expressed in pachytene spermatocytes and round spermatids, where it is thought to affect splicing and signal transduction. We identified eight single nucleotide variants in our patient group of 153 subfertile men by sequencing the HNRNP G-T gene. Two of the mutations, R100H and G388del, did not occur in a control group of 143 normozoospermic men. The R100H mutation causes loss of a conserved arginine, thereby affecting a putative site of methylation possibly required for RNA-binding. Interestingly, this mutation was inherited from the mother. The G388del mutation causes loss of one non-conserved glycine located in a glycine stretch at the end of the protein that is not a known functional motif or domain. Our data show that HNRNP G -T mutations are not a frequent cause of impaired spermatogenesis. Nevertheless, the R100H mutation detected suggests that in some men mutations in the HNRNP G-T gene can cause impaired spermatogenesis.

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“…47, XYY syndrome is caused by paternal nondisjunction during meiosis and occurs in 1:1000 men [5]. Patients present tall stature, azoospermia with normal serum testosterone level.…”

Section: Genetic Mutationsmentioning

confidence: 99%

Therapy in Secretory and Obstructive Azoospermia

Franco

Proietti

2022

Practical Clinical Andrology

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Azoospermia is defined as the absence of sperm in the ejaculate. All etiologies can be categorized in secretory and obstructive azoospermia. Some conditions of obstructive azoospermia are suitable of surgical recanalization to restore natural fertility. Conversely, in cases of nonobstructive etiologies, untreatable obstructive azoospermia, and when female factor is present, sperm retrieval techniques for intracytoplasmatic sperm injection (ICSI) represent the only therapeutic option to reach paternity. The role of the clinical andrologist is to offer to the couple the best treatment option: medical or surgical treatment or sperm retrieval for ICSI.

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Current and future genetic screening for male infertility

Cited by 23 publications

References 154 publications

The epidemiology and etiology of azoospermia

The epidemiology and etiology of azoospermia

Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis

Therapy in Secretory and Obstructive Azoospermia

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