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Spermatocyte maturation arrest

MedGen UID:
1372736
Concept ID:
C4476925
Finding
Synonym: Early spermatogenesis maturation arrest
 
HPO: HP:0031039

Definition

A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. [from HPO]

Conditions with this feature

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 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 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

Poulakis V, Ferakis N, de Vries R, Witzsch U, Becht E
Asian J Androl 2006 Sep;8(5):613-9. doi: 10.1111/j.1745-7262.2006.00157.x. PMID: 16847530

Recent clinical studies

Etiology

Barda S, Mano R, Lehavi O, Kleiman SE, Yossepowitch O, Azem F, Hauser R, Dekalo S
Andrology 2021 Jul;9(4):1145-1150. Epub 2021 Apr 13 doi: 10.1111/andr.13008. PMID: 33774922
Barda S, Yogev L, Paz G, Yavetz H, Hauser R, Breitbart H, Kleiman SE
Gene Expr Patterns 2016 Mar;20(2):130-7. Epub 2016 Mar 17 doi: 10.1016/j.gep.2016.03.003. PMID: 26994494
Barda S, Paz G, Yogev L, Yavetz H, Lehavi O, Hauser R, Botchan A, Breitbart H, Kleiman SE
Fertil Steril 2012 Jan;97(1):46-52.e5. Epub 2011 Oct 28 doi: 10.1016/j.fertnstert.2011.10.010. PMID: 22035730
Maymon BB, Cohen-Armon M, Yavetz H, Yogev L, Lifschitz-Mercer B, Kleiman SE, Botchan A, Hauser R, Paz G
Fertil Steril 2006 Nov;86(5):1402-7. Epub 2006 Sep 25 doi: 10.1016/j.fertnstert.2006.03.063. PMID: 16996513
Maymon BB, Yogev L, Paz G, Kleiman SE, Schreiber L, Botchan A, Hauser R, Yavetz H
Fertil Steril 2002 May;77(5):904-9. doi: 10.1016/s0015-0282(02)03060-1. PMID: 12009342

Diagnosis

Barda S, Mano R, Lehavi O, Kleiman SE, Yossepowitch O, Azem F, Hauser R, Dekalo S
Andrology 2021 Jul;9(4):1145-1150. Epub 2021 Apr 13 doi: 10.1111/andr.13008. PMID: 33774922
Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X, Shi Q
Hum Reprod 2021 Apr 20;36(5):1436-1445. doi: 10.1093/humrep/deab046. PMID: 33713115
Kleiman SE, Lehavi O, Hauser R, Botchan A, Paz G, Yavetz H, Yogev L
Fertil Steril 2011 Jun;95(7):2297-302, 2302.e1. Epub 2011 Apr 6 doi: 10.1016/j.fertnstert.2011.03.020. PMID: 21474125
Yogev L, Gamzu R, Kleiman S, Botchan A, Hauser R, Yavetz H
Fertil Steril 2000 Aug;74(2):228-33. doi: 10.1016/s0015-0282(00)00634-8. PMID: 10927036
Lin WW, Lamb DJ, Lipshultz LI, Kim ED
Fertil Steril 1998 Mar;69(3):533-8. doi: 10.1016/s0015-0282(97)00535-5. PMID: 9531892

Therapy

Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X, Shi Q
Hum Reprod 2021 Apr 20;36(5):1436-1445. doi: 10.1093/humrep/deab046. PMID: 33713115

Prognosis

Wainstein A, Hassan S, Barda S, Lehavi O, Azem F, Ben-Dov IZ, Hauser R, Kleiman SE
Andrology 2023 May;11(4):687-697. Epub 2023 Feb 6 doi: 10.1111/andr.13394. PMID: 36695179
Kleiman SE, Lehavi O, Hauser R, Botchan A, Paz G, Yavetz H, Yogev L
Fertil Steril 2011 Jun;95(7):2297-302, 2302.e1. Epub 2011 Apr 6 doi: 10.1016/j.fertnstert.2011.03.020. PMID: 21474125
Yogev L, Gamzu R, Kleiman S, Botchan A, Hauser R, Yavetz H
Fertil Steril 2000 Aug;74(2):228-33. doi: 10.1016/s0015-0282(00)00634-8. PMID: 10927036

Clinical prediction guides

Wainstein A, Hassan S, Barda S, Lehavi O, Azem F, Ben-Dov IZ, Hauser R, Kleiman SE
Andrology 2023 May;11(4):687-697. Epub 2023 Feb 6 doi: 10.1111/andr.13394. PMID: 36695179
Kleiman SE, Lehavi O, Hauser R, Botchan A, Paz G, Yavetz H, Yogev L
Fertil Steril 2011 Jun;95(7):2297-302, 2302.e1. Epub 2011 Apr 6 doi: 10.1016/j.fertnstert.2011.03.020. PMID: 21474125
Yogev L, Gamzu R, Kleiman S, Botchan A, Hauser R, Yavetz H
Fertil Steril 2000 Aug;74(2):228-33. doi: 10.1016/s0015-0282(00)00634-8. PMID: 10927036
Lin WW, Lamb DJ, Lipshultz LI, Kim ED
Fertil Steril 1998 Mar;69(3):533-8. doi: 10.1016/s0015-0282(97)00535-5. PMID: 9531892
Tsuji Y, Sano M, Nagahama M, Tsutsui Y, Yamamoto M, Miyake K
Int J Androl 1993 Jun;16(3):215-9. doi: 10.1111/j.1365-2605.1993.tb01182.x. PMID: 8359937

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