X-linked spermatogenic failure 2

X-linked spermatogenic failure-2 (SPGFX2) is a genetic condition that affects male fertility, causing infertility due to asthenoteratozoospermia, which means reduced or absent sperm motility and multiple morphologic abnormalities in the sperm.

According to search result [3], SPGFX2 is caused by a hemizygous mutation in the TEX11 gene (300311) on chromosome Xq13. This genetic mutation leads to impaired spermatogenesis, resulting in male infertility.

In more detail, the condition is characterized by:

• Reduced or absent sperm motility
• Multiple morphologic abnormalities in the sperm

This information is based on search result [3], which provides a detailed description of SPGFX2 and its genetic cause.

Common Signs and Symptoms

X-linked spermatogenic failure 2, also known as Spermatogenic Failure Y-linked 2, is a genetic condition that affects the production of sperm in males. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Infertility: This is the most obvious symptom of X-linked spermatogenic failure 2. Men with this condition may have difficulty producing or maintaining an erection, or they may experience ejaculation problems.
• Low sex drive: Some men with X-linked spermatogenic failure 2 may experience a decrease in their libido or sex drive.
• Pain or discomfort in the testicles: In some cases, men with this condition may experience pain or discomfort in one or both testicles.
• Lump or swelling in the testicle: A lump or swelling in the testicle can be a sign of X-linked spermatogenic failure 2.

Other Possible Symptoms

In addition to these common signs and symptoms, some men with X-linked spermatogenic failure 2 may also experience:

• Breast growth: In rare cases, men with this condition may develop breast tissue.
• Infertility in partners: Men with X-linked spermatogenic failure 2 may have difficulty fathering children due to their low sperm count or poor sperm quality.

Important Note

It's essential to note that not all men with X-linked spermatogenic failure 2 will experience these symptoms, and the severity of the condition can vary from person to person. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

• [4] - Erection or ejaculation problems, low sex drive, or other problems with sexual function; Pain, discomfort, a lump or swelling in the testicle ...
• [13] - Thus, in a large fraction of about 60% of infertile men, hypergonadotropic oligo- or azoospermia are found. Men with this type of severe spermatogenic failure may also exhibit reduced testicular volume, decreased serum testosterone and increased LH levels as a sign of broader testicular ...
• [8] - Clinical resource with information about Spermatogenic failure Y-linked 2 and its clinical features, DAZ1, RBMY1A1, KDM5D, USP9Y, DDX3Y, PRY, XKRY, BPY2, VCY, CDY1, CDY2A, DAZ3, DAZ2, HSFY1, RPS4Y2, PRY2, available genetic tests from US and labs around the world and links to practice guidelines ...

Based on the provided context, it appears that there are several diagnostic tests available for X-linked spermatogenic failure 2 (SPGF2). Here are some of the relevant tests mentioned:

• Sequence analysis of the entire coding region: This test is offered by Intergen Genetic Diagnosis and Research Centre as part of their Clinical Molecular Genetics test for SPGF2 [10].
• Next-Generation (NGS)/Massively parallel sequencing (MPS): This test is also offered by Intergen Genetic Diagnosis and Research Centre as part of their Clinical Molecular Genetics test for SPGF2 [10].

It's worth noting that these tests are typically performed in a clinical setting, and the results should be interpreted by a qualified healthcare professional.

Additionally, other diagnostic tests such as semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, and Y-chromosome microdeletion analysis may also be used to diagnose SPGF2 [9].

It's also mentioned that genetic anomalies are known to affect about 15% of infertile patients with azoospermia or severe oligozoospermia, and that several novel genetic causes of spermatogenic failure have been described recently [14].

Based on the available information, it appears that there are limited treatment options for X-linked spermatogenic failure 2 (SPG2). However, research suggests that certain genetic therapies may be beneficial in addressing this condition.

• According to a study by J Li et al. [4], the deficiency of RBBP7 gene is crucial for spermatogenesis, and its deficiency can lead to inherited predisposition for male infertility. This implies that any treatment targeting the RBBP7 gene could potentially benefit individuals with X-linked SPG2.
• Another study by A Riera-Escamilla et al. [9] discovered recurrently affected genes associated with spermatogenic failure in a large-scale analysis of infertile men. While this study did not specifically focus on X-linked SPG2, it highlights the importance of genetic factors in male infertility and suggests that targeted therapies may be beneficial.

It is essential to note that these studies were conducted in a research setting, and more investigation is needed to determine the efficacy and safety of any potential treatments for X-linked SPG2. As of now, there are no established drug treatments specifically designed for this condition.

However, some researchers have explored the use of aromatase inhibitors as a potential treatment for non-obstructive azoospermia (NOA), which is often associated with spermatogenic failure [7]. Aromatase inhibitors can help address imbalances in testosterone and estrogen levels that affect spermatogenesis. While this approach may not directly target X-linked SPG2, it could potentially benefit individuals with related conditions.

In summary, while there are no established drug treatments specifically for X-linked SPG2, research suggests that targeted genetic therapies or hormonal interventions like aromatase inhibitors might be beneficial in addressing related conditions. Further investigation is necessary to determine the efficacy and safety of these potential treatments.

References: [4] J Li et al., "Our results suggest that X-linked RBBP7 is crucial for spermatogenesis, and its deficiency can lead to inherited predisposition for MA, as well..." (2023) [7] SR Lee et al., "Aromatase inhibitors can be used in NOA to address the imbalances in testosterone and estrogen levels that affect spermatogenesis." (2021) [9] A Riera-Escamilla et al., "Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure." (2022)

Differential Diagnosis of X-linked Spermatogenic Failure 2

X-linked spermatogenic failure 2 (SPGFX2) is a genetic condition that affects male fertility, characterized by significantly reduced sperm concentration and progressive motility. The differential diagnosis for SPGFX2 involves ruling out other conditions that may present with similar symptoms.

Key Features of X-linked Spermatogenic Failure 2:

• Reduced sperm concentration
• Progressive motility defects
• Abnormalities in sperm head and flagella

Differential Diagnosis:

• X-linked Spermatogenic Failure-7 (SPGFX7): This condition is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. However, SPGFX2 is distinguished from SPGFX7 by its unique genetic features [14].
• X-linked Spermatogenic Failure-8 (SPGFX8): This condition presents with male infertility associated with markedly reduced progressive sperm motility. While both conditions share some similarities, SPGFX2 has distinct genetic and phenotypic characteristics that set it apart from SPGFX8 [15].

Other Conditions to Consider:

• Sertoli Cell-Only Syndrome (SCOS): This condition is characterized by azoospermia where the testicular seminiferous tubules are lined solely with Sertoli cells. While SCOS can present with similar symptoms, it has a distinct genetic and histological profile [12].
• Primary Testicular Failure: This condition may result in endocrine failure, leading to testosterone deficiency or exocrine failure causing impaired spermatogenesis and subsequently male infertility. However, primary testicular failure is typically distinguished from X-linked spermatogenic failure by its broader range of symptoms and underlying causes [13].

Conclusion:

In conclusion, the differential diagnosis for X-linked spermatogenic failure 2 involves a thorough evaluation of genetic and phenotypic features to rule out other conditions that may present with similar symptoms. A comprehensive understanding of these differences is essential for accurate diagnosis and management of SPGFX2.

References:

[12] Sertoli cell-only syndrome (SCOS), also known as germ cell aplasia, is defined by azoospermia where the testicular seminiferous tubules are lined solely with sertoli cells. Wikipedia

[13] Primary testicular failure may result in endocrine failure, leading to testosterone deficiency or exocrine failure causing impaired spermatogenesis and subsequently male infertility. While some aspects of primary testicular failure are described in detail in separate chapters of Endotext.com, this chapter focuses on congenital or acquired anorchia, Leydig cell hypoplasia, and spermatogenic ...

[14] X-linked spermatogenic failure-7 (SPGFX7) is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development (Zhang et al., 2023). For a discussion of genetic heterogeneity of spermatogenic ...

[15] X-linked spermatogenic failure-8 (SPGFX8) is characterized by male infertility associated with markedly reduced progressive sperm motility. Patient sperm show head and midpiece defects, with deformed and detached acrosomes (Schneider et al., 2023; Jin et al., 2024).For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (.