Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

Description

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

Clinical Features

Phenotypes and symptoms related to Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

  • Decreased testicular size
  • Azoospermia
  • Increased circulating gonadotropin level
  • Abnormal spermatogenesis
  • Obstructive azoospermia
  • Non-obstructive azoospermia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation extracted from public data.

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation Experts map



Current Researchs and researchers

  • POISSY — Pr François VIALARD

    Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Histologie embryologie, biologie de la reproduction, cytogénétique et génétique médicale, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
      — Service histo-embryologie, cytogénétique, génétique médicale et biologie de la reproduction, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
    • Research area/topic::

      Identification and characterization of gene mutations in patients with azoospermia by maturation



Mendelian

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Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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Premature Ovarian Failure Sequencing Panel.

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BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
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SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

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Hypospadias Sequencing Panel.

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46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

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SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

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46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

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Premature Ovarian Failure Deletion/Duplication Panel.

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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