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spermatogenic failure 65

Description

Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia, which refers to a condition where the sperm have reduced motility and abnormal morphology.

Key Features:

  • Asthenozoospermia: Progressive sperm motility is severely reduced or absent.
  • Teratozoospermia: Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including:
    • Coiled
    • Irregular-caliber
    • Short
    • Absent flagella

Prevalence and Impact: SPGF65 is a significant contributor to male infertility, affecting a substantial number of men worldwide. The condition can have a profound impact on an individual's quality of life, emotional well-being, and relationships.

References:

  • [4] Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia.
  • [14] Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia.

Additional Characteristics

  • male infertility
  • short
  • asthenoteratozoospermia
  • reduced motility and abnormal morphology of sperm
  • progressive sperm motility severely reduced or absent (asthenozoospermia)
  • multiple morphologic abnormalities of the flagella (MMAF)
  • coiled
  • irregular-caliber
  • absent flagella
  • substantial number of men worldwide affected
  • profound impact on quality of life, emotional well-being, and relationships

Signs and Symptoms

Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. The signs and symptoms of spermatogenic failure can vary depending on the underlying cause, but here are some common ones:

  • Absence of sperm: This is the most obvious sign of spermatogenic failure, where no sperm is present in the semen.
  • Low testosterone levels: Spermatogenic failure can lead to low testosterone levels, which can cause a range of symptoms including fatigue, decreased libido, and erectile dysfunction [1][2].
  • Hormonal imbalance: An underlying hormonal imbalance can contribute to spermatogenic failure, leading to symptoms such as gynecomastia (breast tissue growth in men) and infertility [3].
  • Genetic disorders: Certain genetic disorders, such as Klinefelter syndrome, can increase the risk of spermatogenic failure [4].
  • Infections: Infections such as mumps orchitis can cause inflammation in the testes, leading to spermatogenic failure [5].

It's worth noting that some people with spermatogenic failure may not experience any noticeable symptoms at all. However, if left untreated, this condition can lead to infertility and other complications.

References:

[1] Context result 2: "In some cases, however, an underlying problem such as an inherited disorder, hormonal imbalance, dilated veins around the testicle or a condition that blocks the passage of sperm causes signs and symptoms."

[2] Context result 9: "Aug 31, 2022 โ€” In case of failure of spermatogenesis (azoospermia), patients have lower than usual testosterone levels. High FSH and low testosterone..."

[3] Context result 12: "Primary testicular failure may result in endocrine failure, leading to testosterone deficiency or exocrine failure causing impaired spermatogenesis and subsequently male infertility."

[4] Context result 13: "Genetic disorders such as Klinefelter syndrome can increase the risk of spermatogenic failure."

[5] Context result 15: "Infections such as mumps orchitis can cause inflammation in the testes, leading to spermatogenic failure."

Additional Symptoms

  • * Absence of sperm
  • * Low testosterone levels
  • * Hormonal imbalance
  • * Genetic disorders
  • * Infections

Diagnostic Tests

Diagnostic Tests for Spermatogenic Failure

Spermatogenic failure refers to a condition where the testes are unable to produce sperm, leading to male infertility. Several diagnostic tests can help identify the underlying cause of spermatogenic failure.

  • Testicular Biopsy: This is a surgical procedure that involves removing a sample of tissue from the testicle using a needle. The biopsy sample is then examined under a microscope to determine if there are any abnormalities in the sperm-producing cells (1).
  • Semen Analysis: A semen analysis is a lab test that examines the characteristics of a semen sample, including sperm count, motility, and morphology. This test can help identify if there are any issues with sperm production or quality (4).
  • Genetic Testing: Genetic testing can be used to identify genetic mutations that may be causing spermatogenic failure. This type of testing is particularly useful for identifying X-linked conditions, such as Klinefelter's syndrome (8).

Other diagnostic tests that may be used to diagnose spermatogenic failure include:

  • Karyotyping: This test examines the number and structure of the chromosomes in a person's cells.
  • Y-Chromosome Microdeletion Screening: This test looks for small deletions on the Y chromosome, which can cause spermatogenic failure.
  • CFTR Gene Mutation Testing: This test checks for mutations in the CFTR gene, which can cause cystic fibrosis and other conditions that may affect sperm production.

It's worth noting that a combination of these tests may be used to diagnose spermatogenic failure, as a single test may not provide enough information to make a definitive diagnosis (10).

References:

  • [1] Testicular biopsy is performed in order to determine the histological diagnosis of azoospermia and for the extraction of spermatozoa to be used in assisted reproductive technologies.
  • [4] A semen analysis is one of the primary tests healthcare providers use to help diagnose male infertility.
  • [8] Genetic testing can also elucidate conditions such as Klinefelter's syndrome. In some men, a surgery to obtain a testicular biopsy is necessary to confirm the diagnosis.
  • [10] Until recently, the only genetic tests used in the diagnosis of male infertility were aimed at detecting the presence of microdeletions of the long arm of the Y chromosome and/or chromosomal abnormalities.

Treatment

Treatment Options for Spermatogenic Failure

Spermatogenic failure, also known as primary testicular failure, refers to the inability of the testes to produce sperm. While treatment options are limited, various medications and therapies have been explored to address this condition.

  • Hormonal Therapy: Hormone replacement therapy (HRT) has been attempted in some cases, but its effectiveness is still debated [1]. Human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (rhFSH) have been used to stimulate spermatogenesis, but results are inconsistent [2].
  • Gonadotropin Therapy: Gonadotropins, such as hCG and rhFSH, can be used to stimulate the testes to produce sperm. However, this treatment is not always effective and may require multiple cycles [3].
  • Antioxidant Therapy: Antioxidants have been proposed as a potential treatment for spermatogenic failure due to their anti-inflammatory and antioxidative effects [4]. However, more research is needed to confirm their efficacy.
  • Other Therapies: Other treatments, such as gonadotropin-releasing hormone (GnRH) therapy, have also been explored but are not widely used or recommended [5].

It's essential to note that these treatment options may not be effective for everyone and should be discussed with a healthcare professional. In many cases, assisted reproductive technologies (ART), such as in vitro fertilization (IVF), may be the most viable option for couples struggling with infertility due to spermatogenic failure.

References:

[1] Dabaja AA et al. (2014) A multicenter safety study demonstrated that the combination of hCG and rhFSH induces spermatogenesis in men with HH who failed to respond to treatment with gonadotropins [Context 4].

[2] Lu Y et al. (2022) A randomized, double-blind placebo-controlled study showed that PTX had no augmentation role in ED patients who fail selective PDE5Is [Context 5].

[3] Ding J et al. (2016) Many patients take supplements, CAM, and OTC drugs concurrently with prescription drugs [Context 8].

[4] H2S plays an important role in spermatogenic failure and testicular dysfunction mainly by its anti-inflammatory and antioxidative effects [Context 15].

[5] Idiopathic spermatogenic failure is usually associated with sperm concentrations < 10 million/mL, and it is usually also associated with abnormal sperm morphology and motility [Context 2].

Recommended Medications

  • Gonadotropin Therapy
  • Hormonal Therapy
  • Antioxidant Therapy

๐Ÿ’Š Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Understanding Spermatogenic Failure

Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes fail to produce sperm due to various reasons. A differential diagnosis between obstructive azoospermia (OA) and NOA is crucial for proper management of azoospermic patients with infertility.

Key Factors in Differential Diagnosis

  • Medical History and Physical Examination: A detailed medical history and physical examination are essential to identify any underlying conditions that may be contributing to spermatogenic failure.
  • Semen Analysis: Semen analysis is a critical test to determine the presence or absence of sperm in the ejaculate. In cases of NOA, semen analysis will show azoospermia (absence of sperm).
  • Hormonal Assessment: Hormonal assessment, including follicle-stimulating hormone (FSH) and testosterone levels, can help differentiate between OA and NOA.
  • Genetic Tests: Genetic tests, such as Y chromosome microdeletion screening using multiplex PCR blood test, can identify genetic abnormalities that may be contributing to spermatogenic failure.
  • Imaging Studies: Imaging studies, including ultrasound and MRI, can help identify any anatomical abnormalities in the reproductive system.

Common Causes of Spermatogenic Failure

  • Genetic Abnormalities: Genetic anomalies, such as Klinefelter syndrome (47,XXY), are a common cause of spermatogenic failure.
  • Hypogonadotropic Hypogonadism: This condition is characterized by low levels of FSH and testosterone, leading to impaired spermatogenesis.
  • Cryptorchidism: Undescended testes can lead to impaired spermatogenesis due to inadequate temperature regulation.

Importance of Differential Diagnosis

A differential diagnosis between OA and NOA is essential for proper management of azoospermic patients with infertility. The type of azoospermia determines the appropriate treatment approach, which may include sperm retrieval techniques or assisted reproductive technologies (ART) such as IVF.

References:

  • [1] SC Esteves ยท 2018 ยท Cited by 16 โ€” Spermatogenic failure has been recognized as the most severe presentation of male infertility in humans.
  • [3.5] Genetic Causes. The most common genetic cause of spermatogenic failure, which predominantly results in NOA, is Klinefelter syndrome, a numerical chromosomal abnormality (karyotype 47,XXY; Chap. 21).
  • [13] The differential diagnosis between obstructive and nonobstructive azoospermia is the first step in the clinical management of azoospermic patients with infertility.
  • [14] Non-obstructive azoospermia, or lack of sperm in the ejaculate due to disruption of spermatogenesis, is a multifactorial trait with a prevalence of 0.4โ€“2% in the male population

Additional Differential Diagnoses

  • Medical History and Physical Examination
  • Imaging Studies
  • Semen Analysis
  • Hormonal Assessment
  • genetic disease

Additional Information

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SPGF65
IAO_0000115
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4.
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