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Male infertility with azoospermia or oligozoospermia due to single gene mutation

MedGen UID:
1842653
Concept ID:
C5681165
Disease or Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Orphanet: ORPHA399805

Definition

A rare, genetic male infertility due to a 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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Male infertility with azoospermia or oligozoospermia due to single gene mutation

Professional guidelines

PubMed

Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Recent clinical studies

Etiology

Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Diagnosis

Mazzilli R, Rucci C, Vaiarelli A, Cimadomo D, Ubaldi FM, Foresta C, Ferlin A
J Endocrinol Invest 2023 Jun;46(6):1079-1085. Epub 2023 Jan 12 doi: 10.1007/s40618-022-02000-4. PMID: 36633791Free PMC Article
Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Gunes S, Esteves SC
Andrologia 2021 Feb;53(1):e13586. Epub 2020 Apr 21 doi: 10.1111/and.13586. PMID: 32314821
Cocuzza M, Alvarenga C, Pagani R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):15-26. doi: 10.6061/clinics/2013(sup01)03. PMID: 23503951Free PMC Article

Therapy

Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Hwang K, Guo D
Eur Urol Focus 2019 Nov;5(6):1143-1145. Epub 2018 May 3 doi: 10.1016/j.euf.2018.04.010. PMID: 29729871
Chao J, Page ST, Anderson RA
Best Pract Res Clin Obstet Gynaecol 2014 Aug;28(6):845-57. Epub 2014 Jun 5 doi: 10.1016/j.bpobgyn.2014.05.008. PMID: 24947599Free PMC Article

Prognosis

Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK
Andrology 2022 Nov;10(8):1605-1624. Epub 2022 Sep 7 doi: 10.1111/andr.13269. PMID: 36017582Free PMC Article
Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305
Fainberg J, Hayden RP, Schlegel PN
Expert Rev Endocrinol Metab 2019 Nov;14(6):369-380. Epub 2019 Oct 7 doi: 10.1080/17446651.2019.1671821. PMID: 31587581

Clinical prediction guides

Xia P, Ouyang S, Shen R, Guo Z, Zhang G, Liu X, Yang X, Xie K, Wang D
Int J Mol Sci 2023 May 16;24(10) doi: 10.3390/ijms24108819. PMID: 37240164Free PMC Article
Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK
Andrology 2022 Nov;10(8):1605-1624. Epub 2022 Sep 7 doi: 10.1111/andr.13269. PMID: 36017582Free PMC Article
Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305

Recent systematic reviews

Kyrgiafini MA, Mamuris Z
Biomolecules 2023 Jun 27;13(7) doi: 10.3390/biom13071046. PMID: 37509082Free PMC Article
Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
Amor H, Hammadeh ME
Genes (Basel) 2022 Jun 30;13(7) doi: 10.3390/genes13071182. PMID: 35885965Free PMC Article
Pang KH, Osman NI, Muneer A, Alnajjar HM
Int J Impot Res 2022 Sep;34(6):543-551. Epub 2021 Nov 6 doi: 10.1038/s41443-021-00492-x. PMID: 34743192
Kordzadeh A, Liu MO, Jayanthi NV
Hernia 2017 Feb;21(1):1-7. Epub 2016 Dec 3 doi: 10.1007/s10029-016-1560-0. PMID: 27915384

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