Abstract
Male infertility is a multifactorial and heterogeneous pathological condition affecting 7% of the general male population. The genetic landscape of male infertility is highly complex as semen and testis histological phenotypes are extremely heterogeneous, and at least 2000 genes are predicted to be involved in spermatogenesis. Genetic factors have been described in each etiological category of male reproductive impairment: (1) hypothalamic–pituitary axis dysfunction; (2) quantitative and qualitative alterations of spermatogenesis; (3) ductal obstruction/dysfunction. In 25% of azoospermic and in 10% of oligozoospermic men, a genetic anomaly can be diagnosed with the current genetic testing. However, up to now, only a relatively low number of monogenic factors have a clear-cut cause–effect relationship with impaired reproductive function. Thanks to the widespread diffusion of Next-Generation Sequencing, a continuously increasing number of monogenic causes of male infertility are being discovered and their validation is currently ongoing. The identification of genetic factors is of outmost clinical importance since there is a risk of transmission of genetic defects through natural or assisted reproductive techniques. The benefit of the genetic diagnosis of infertility has an obvious clinical significance for the patient itself with implications not only for his reproductive health but in many instances also for his general health.
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Abbreviations
- AIS:
-
Androgen Insensitivity Syndrome
- AOA:
-
Artificial oocyte activation
- ART:
-
Assisted reproductive techniques
- AZF:
-
Azoospermia factor
- CAIS:
-
Complete Androgen Insensitivity
- CAVD:
-
Congentinal Absence of Vas Deferens
- CBAVD:
-
Congentinal Bilateral Absence of Vas Deferens
- CFAP:
-
Cilia and Flagella Associated Protein family
- CHARGE:
-
Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital and/or urinary defects, Ear anomalies or deafness
- CHH:
-
Congenital hypogonadotropic hypogonadism
- CPC:
-
Chromosomal passenger complex
- CPHD:
-
Combined pituitary hormone deficiency
- CUAVD:
-
Congenital unilateral absence of vas deferens
- DBD:
-
DNA-binding domain
- DFS:
-
Dysplasia of fibrous sheath
- DNA-DSB:
-
DNA-Double Strand Breaks
- DSD:
-
Disorders of sexual development
- D-WS:
-
Dandy-Walker syndrome
- FA:
-
Fanconi anemia
- FISH:
-
Fluorescence in situ hybridization
- GHS:
-
Gordon Holmes syndrome
- HS:
-
Hartsfield syndrome
- HTCA:
-
Head-tail coupling apparatus
- ICSI:
-
Intracytoplasmic sperm injection
- KS:
-
Kallmann syndrome
- LBD:
-
Ligand-binding domain
- MAIS:
-
Mild androgen insensitivity
- MGS:
-
Morning glory syndrome
- MMAF:
-
Multiple Morphological Abnormalities of the sperm Flagella
- NAHR:
-
Nonallelic homologous recombination
- NGS:
-
Next-generation sequencing
- NOA:
-
Nonobstructive azoospermia
- NTD:
-
N-terminal domain
- OA:
-
Obstructive azoospermia
- PAIS:
-
Partial androgen insensitivity
- PAR:
-
Pseudoautosomal region
- PCD:
-
Primary ciliary dyskinesia
- PCR:
-
Polymerase chain reaction
- PEPNS:
-
Polyendocrine deficiencies and Polyneuropathies
- PGD:
-
Preimplantation genetic diagnosis
- POI:
-
Premature ovarian insufficiency
- SHFM:
-
Split-hand/foot malformation
- SOD:
-
Septo-optic dysplasia
- TEM:
-
Transmission electron microscopy
- TESE:
-
Testicular sperm extraction
- WES:
-
Whole-exome sequencing
- WS:
-
Waardenburg syndrome
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Krausz, C., Riera-Escamilla, A. (2019). Monogenic Forms of Male Infertility. In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_16
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Print ISBN: 978-3-030-25904-4
Online ISBN: 978-3-030-25905-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)