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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

Koc G, Ozdemir AA, Girgin G, Akbal C, Kirac D, Avcilar T, Guney AI
Int J Urol 2019 Feb;26(2):292-298. Epub 2018 Nov 26 doi: 10.1111/iju.13863. PMID: 30478911
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

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
Stouffs K, Seneca S, Lissens W
Ann Endocrinol (Paris) 2014 May;75(2):109-11. Epub 2014 Apr 24 doi: 10.1016/j.ando.2014.03.004. PMID: 24768008
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

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
Behvarz M, Rahmani SA, Siasi Torbati E, Danaei Mehrabad S, Bikhof Torbati M
BMC Med Genomics 2022 Mar 5;15(1):47. doi: 10.1186/s12920-022-01197-w. PMID: 35248021Free 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

Supplemental Content

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