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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]

Term Hierarchy

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 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

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
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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

Diagnosis

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
Peña VN, Kohn TP, Herati AS
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101479. Epub 2020 Dec 15 doi: 10.1016/j.beem.2020.101479. PMID: 33390350
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
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
Ghieh F, Barbotin AL, Swierkowski-Blanchard N, Leroy C, Fortemps J, Gerault C, Hue C, Mambu Mambueni H, Jaillard S, Albert M, Bailly M, Izard V, Molina-Gomes D, Marcelli F, Prasivoravong J, Serazin V, Dieudonne MN, Delcroix M, Garchon HJ, Louboutin A, Mandon-Pepin B, Ferlicot S, Vialard F
Hum Reprod 2022 May 30;37(6):1334-1350. doi: 10.1093/humrep/deac057. PMID: 35413094Free PMC Article
Zhankina R, Baghban N, Askarov M, Saipiyeva D, Ibragimov A, Kadirova B, Khoradmehr A, Nabipour I, Shirazi R, Zhanbyrbekuly U, Tamadon A
Stem Cell Res Ther 2021 Apr 6;12(1):229. doi: 10.1186/s13287-021-02295-9. PMID: 33823925Free 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

Prognosis

Chen T, Wang Y, Tian L, Guo X, Xia J, Wang Z, Song N
Front Immunol 2022;13:821010. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.821010. PMID: 35833143Free 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
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

Clinical prediction guides

Chen T, Wang Y, Tian L, Guo X, Xia J, Wang Z, Song N
Front Immunol 2022;13:821010. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.821010. PMID: 35833143Free PMC Article
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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
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

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
Zhankina R, Baghban N, Askarov M, Saipiyeva D, Ibragimov A, Kadirova B, Khoradmehr A, Nabipour I, Shirazi R, Zhanbyrbekuly U, Tamadon A
Stem Cell Res Ther 2021 Apr 6;12(1):229. doi: 10.1186/s13287-021-02295-9. PMID: 33823925Free 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
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

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