U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Non-obstructive azoospermia

MedGen UID:
866757
Concept ID:
C4021107
Disease or Syndrome
Synonym: Testicular azoospermia
 
HPO: HP:0011961

Definition

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [from HPO]

Conditions with this feature

Spermatogenic failure 2
MedGen UID:
400056
Concept ID:
C1862459
Finding
Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 15
MedGen UID:
934746
Concept ID:
C4310779
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
Spermatogenic failure 22
MedGen UID:
1618089
Concept ID:
C4540179
Disease or Syndrome
Spermatogenic failure-22 (SPGF22) is characterized by male infertility due to spermatocyte maturation arrest resulting in cryptozoospermia or azoospermia (Gershoni et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 25
MedGen UID:
1646677
Concept ID:
C4693765
Disease or Syndrome
Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 28
MedGen UID:
1648494
Concept ID:
C4748117
Disease or Syndrome
Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 29
MedGen UID:
1648499
Concept ID:
C4748142
Disease or Syndrome
Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 32
MedGen UID:
1648444
Concept ID:
C4748253
Disease or Syndrome
Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 57
MedGen UID:
1794198
Concept ID:
C5561988
Disease or Syndrome
Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 59
MedGen UID:
1794244
Concept ID:
C5562034
Disease or Syndrome
Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 60
MedGen UID:
1794245
Concept ID:
C5562035
Disease or Syndrome
Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 61
MedGen UID:
1794258
Concept ID:
C5562048
Disease or Syndrome
Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage (Riera-Escamilla et al., 2019;van der Bijl et al., 2019). Mutation in the STAG3 gene also causes premature ovarian failure (POF8; 615723), resulting in female infertility. For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 62
MedGen UID:
1794259
Concept ID:
C5562049
Disease or Syndrome
Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 71
MedGen UID:
1801153
Concept ID:
C5676963
Disease or Syndrome
Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia (Alhathal et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 73
MedGen UID:
1801127
Concept ID:
C5676988
Disease or Syndrome
Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 74
MedGen UID:
1812069
Concept ID:
C5677010
Disease or Syndrome
Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 75
MedGen UID:
1804291
Concept ID:
C5677014
Disease or Syndrome
Spermatogenic failure-75 (SPGF75) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage (Krausz et al., 2020; Yao et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Roshandel E, Mehravar M, Nikoonezhad M, Alizadeh AM, Majidi M, Salimi M, Hajifathali A
Reprod Sci 2023 May;30(5):1482-1494. Epub 2022 Nov 15 doi: 10.1007/s43032-022-01115-6. PMID: 36380137Free PMC Article
Lira FNT Neto
Int Braz J Urol 2022 May-Jun;48(3):482-484. doi: 10.1590/S1677-5538.IBJU.2022.99.13.1. PMID: 35373946Free PMC Article
Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article

Recent clinical studies

Etiology

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
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
Xie C, Wang W, Tu C, Meng L, Lu G, Lin G, Lu LY, Tan YQ
Hum Reprod Update 2022 Nov 2;28(6):763-797. doi: 10.1093/humupd/dmac024. PMID: 35613017
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Thakker S, Persily J, Najari BB
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101475. Epub 2020 Dec 1 doi: 10.1016/j.beem.2020.101475. PMID: 33419659

Diagnosis

Xie C, Wang W, Tu C, Meng L, Lu G, Lin G, Lu LY, Tan YQ
Hum Reprod Update 2022 Nov 2;28(6):763-797. doi: 10.1093/humupd/dmac024. PMID: 35613017
Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF
Am J Hum Genet 2022 Mar 3;109(3):508-517. Epub 2022 Feb 15 doi: 10.1016/j.ajhg.2022.01.011. PMID: 35172124Free PMC Article
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Zhao L, Yao C, Xing X, Jing T, Li P, Zhu Z, Yang C, Zhai J, Tian R, Chen H, Luo J, Liu N, Deng Z, Lin X, Li N, Fang J, Sun J, Wang C, Zhou Z, Li Z
Nat Commun 2020 Nov 10;11(1):5683. doi: 10.1038/s41467-020-19414-4. PMID: 33173058Free PMC Article

Therapy

Roshandel E, Mehravar M, Nikoonezhad M, Alizadeh AM, Majidi M, Salimi M, Hajifathali A
Reprod Sci 2023 May;30(5):1482-1494. Epub 2022 Nov 15 doi: 10.1007/s43032-022-01115-6. PMID: 36380137Free PMC Article
Xie X, Murtaza G, Li Y, Zhou J, Ye J, Khan R, Jiang L, Khan I, Zubair M, Yin H, Jiang H, Liu W, Shi B, Hou X, Gong C, Fan S, Wang Y, Jiang X, Zhang Y, Zhang H, Ma H, Shi Q
Hum Reprod 2022 Jun 30;37(7):1664-1677. doi: 10.1093/humrep/deac092. PMID: 35526155
Tharakan T, Corona G, Foran D, Salonia A, Sofikitis N, Giwercman A, Krausz C, Yap T, Jayasena CN, Minhas S
Hum Reprod Update 2022 Aug 25;28(5):609-628. doi: 10.1093/humupd/dmac016. PMID: 35526153Free PMC Article
Corona G, Minhas S, Giwercman A, Bettocchi C, Dinkelman-Smit M, Dohle G, Fusco F, Kadioglou A, Kliesch S, Kopa Z, Krausz C, Pelliccione F, Pizzocaro A, Rassweiler J, Verze P, Vignozzi L, Weidner W, Maggi M, Sofikitis N
Hum Reprod Update 2019 Nov 5;25(6):733-757. doi: 10.1093/humupd/dmz028. PMID: 31665451
Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article

Prognosis

Tang Q, Su Q, Wei L, Wang K, Jiang T
Front Endocrinol (Lausanne) 2023;14:1108616. Epub 2023 Oct 3 doi: 10.3389/fendo.2023.1108616. PMID: 37854191Free PMC Article
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242

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
Gumus K, Demir M, Dag I
J Coll Physicians Surg Pak 2022 Oct;32(10):1238-1241. doi: 10.29271/jcpsp.2022.10.1238. PMID: 36205264
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Elzanaty S
Int Urol Nephrol 2013 Jun;45(3):669-74. Epub 2013 Apr 20 doi: 10.1007/s11255-013-0443-x. PMID: 23604704

Recent systematic reviews

Tharakan T, Corona G, Foran D, Salonia A, Sofikitis N, Giwercman A, Krausz C, Yap T, Jayasena CN, Minhas S
Hum Reprod Update 2022 Aug 25;28(5):609-628. doi: 10.1093/humupd/dmac016. PMID: 35526153Free PMC Article
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
Corona G, Minhas S, Giwercman A, Bettocchi C, Dinkelman-Smit M, Dohle G, Fusco F, Kadioglou A, Kliesch S, Kopa Z, Krausz C, Pelliccione F, Pizzocaro A, Rassweiler J, Verze P, Vignozzi L, Weidner W, Maggi M, Sofikitis N
Hum Reprod Update 2019 Nov 5;25(6):733-757. doi: 10.1093/humupd/dmz028. PMID: 31665451
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S; Klinefelter ItaliaN Group (KING)
Hum Reprod Update 2017 May 1;23(3):265-275. doi: 10.1093/humupd/dmx008. PMID: 28379559
Deruyver Y, Vanderschueren D, Van der Aa F
Andrology 2014 Jan;2(1):20-4. Epub 2013 Nov 6 doi: 10.1111/j.2047-2927.2013.00148.x. PMID: 24193894

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...