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Male infertility with spermatogenesis disorder due to single gene mutation

MedGen UID:
1842583
Concept ID:
C5681166
Disease or Syndrome
Orphanet: ORPHA399786

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Male infertility with spermatogenesis disorder due to single gene mutation

Recent clinical studies

Etiology

Sudhakar DVS, Nizamuddin S, Manisha G, Devi JR, Gupta NJ, Chakravarthy BN, Deenadayal M, Singh L, Thangaraj K
Andrologia 2018 Apr;50(3) Epub 2017 Dec 18 doi: 10.1111/and.12931. PMID: 29265478
Krausz C, Escamilla AR, Chianese C
Reproduction 2015 Nov;150(5):R159-74. doi: 10.1530/REP-15-0261. PMID: 26447148
Byler MC, Lebel RR
Semin Reprod Med 2013 Jul;31(4):258-66. Epub 2013 Jun 17 doi: 10.1055/s-0033-1345273. PMID: 23775381
Crosnoe LE, Kim ED
Curr Opin Obstet Gynecol 2013 Jun;25(3):181-5. doi: 10.1097/GCO.0b013e32836024cb. PMID: 23493186
Nuti F, Krausz C
Reprod Biomed Online 2008 Apr;16(4):504-13. doi: 10.1016/s1472-6483(10)60457-9. PMID: 18413059

Diagnosis

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
Ferlin A, Dipresa S, Delbarba A, Maffezzoni F, Porcelli T, Cappelli C, Foresta C
Expert Rev Mol Diagn 2019 Jul;19(7):623-633. Epub 2019 Jun 24 doi: 10.1080/14737159.2019.1633917. PMID: 31215260
Krausz C, Escamilla AR, Chianese C
Reproduction 2015 Nov;150(5):R159-74. doi: 10.1530/REP-15-0261. PMID: 26447148
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article
Nuti F, Krausz C
Reprod Biomed Online 2008 Apr;16(4):504-13. doi: 10.1016/s1472-6483(10)60457-9. PMID: 18413059

Therapy

Crosnoe LE, Kim ED
Curr Opin Obstet Gynecol 2013 Jun;25(3):181-5. doi: 10.1097/GCO.0b013e32836024cb. PMID: 23493186
Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr
J Clin Endocrinol Metab 2005 Mar;90(3):1317-22. Epub 2004 Dec 21 doi: 10.1210/jc.2004-1361. PMID: 15613419

Prognosis

Rahimian M, Askari M, Salehi N, Riccio A, Jaafarinia M, Almadani N, Totonchi M
Taiwan J Obstet Gynecol 2023 Nov;62(6):830-837. doi: 10.1016/j.tjog.2023.03.015. PMID: 38008501
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
Hasani N, Mohseni Meybodi A, Rafaee A, Sadighi Gilani MA, Mohammadzadeh R, Sabbaghian M
Andrologia 2019 Nov;51(10):e13376. Epub 2019 Aug 2 doi: 10.1111/and.13376. PMID: 31373714
Ferlin A, Dipresa S, Delbarba A, Maffezzoni F, Porcelli T, Cappelli C, Foresta C
Expert Rev Mol Diagn 2019 Jul;19(7):623-633. Epub 2019 Jun 24 doi: 10.1080/14737159.2019.1633917. PMID: 31215260
Ge SQ, Grifin J, Liu LH, Aston KI, Simon L, Jenkins TG, Emery BR, Carrell DT
Genet Mol Res 2015 Aug 7;14(3):9053-61. doi: 10.4238/2015.August.7.14. PMID: 26345837

Clinical prediction guides

Rahimian M, Askari M, Salehi N, Riccio A, Jaafarinia M, Almadani N, Totonchi M
Taiwan J Obstet Gynecol 2023 Nov;62(6):830-837. doi: 10.1016/j.tjog.2023.03.015. PMID: 38008501
Pan B, Yuan S, Mayernik L, Yap YT, Moin K, Chung CS, Maddipati K, Krawetz SA, Zhang Z, Hess RA, Chen X
FASEB J 2023 May;37(5):e22908. doi: 10.1096/fj.202201848R. PMID: 37039784Free PMC Article
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
Hasani N, Mohseni Meybodi A, Rafaee A, Sadighi Gilani MA, Mohammadzadeh R, Sabbaghian M
Andrologia 2019 Nov;51(10):e13376. Epub 2019 Aug 2 doi: 10.1111/and.13376. PMID: 31373714
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article

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