U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 48(SPGF48)

MedGen UID:
1761843
Concept ID:
C5436823
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 48; SPGF48
 
Gene (location): M1AP (2p13.1)
 
Monarch Initiative: MONDO:0030846
OMIM®: 619108

Definition

Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Oligospermia
MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Spermatogenesis maturation arrest
MedGen UID:
1374029
Concept ID:
C4477100
Finding
Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.

Recent clinical studies

Etiology

Laursen RJ, Alsbjerg B, Elbaek HO, Povlsen BB, Jensen KBS, Lykkegaard J, Esteves SC, Humaidan P
Int Braz J Urol 2022 May-Jun;48(3):471-481. doi: 10.1590/S1677-5538.IBJU.2022.9913. PMID: 35168313Free PMC Article
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S, Suganthi R
Genet Test Mol Biomarkers 2015 Mar;19(3):150-5. Epub 2015 Jan 16 doi: 10.1089/gtmb.2014.0251. PMID: 25594150Free PMC Article
Wu W, Hu Z, Qin Y, Dong J, Dai J, Lu C, Zhang W, Shen H, Xia Y, Wang X
Mol Hum Reprod 2012 Oct;18(10):489-97. Epub 2012 Jun 6 doi: 10.1093/molehr/gas022. PMID: 22675043
Wu W, Lu C, Xia Y, Shen O, Ji G, Gu A, Song L, Wang X
Clin Chem Lab Med 2010 Mar;48(3):355-60. doi: 10.1515/CCLM.2010.007. PMID: 20170395

Diagnosis

Liu X, Zhang H, Yu Y, Fei J, Jiang Y, Liu R, Wang R, Zhang G
Medicine (Baltimore) 2020 Sep 11;99(37):e22124. doi: 10.1097/MD.0000000000022124. PMID: 32925763Free PMC Article
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article
Wu W, Lu C, Xia Y, Shen O, Ji G, Gu A, Song L, Wang X
Clin Chem Lab Med 2010 Mar;48(3):355-60. doi: 10.1515/CCLM.2010.007. PMID: 20170395
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

Therapy

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Gu Y, Liang X, Wu W, Liu M, Song S, Cheng L, Bo L, Xiong C, Wang X, Liu X, Peng L, Yao K
J Clin Endocrinol Metab 2009 Jun;94(6):1910-5. Epub 2009 Mar 17 doi: 10.1210/jc.2008-1846. PMID: 19293262

Prognosis

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article

Clinical prediction guides

Huang WL, Ding L, Yao JH, Hu HT, Gao Y, Xie XY, Lu MD, Deng CH, Xie Y, Wang Z
Andrologia 2021 Mar;53(2):e13927. Epub 2020 Dec 23 doi: 10.1111/and.13927. PMID: 33355959
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article
Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S, Suganthi R
Genet Test Mol Biomarkers 2015 Mar;19(3):150-5. Epub 2015 Jan 16 doi: 10.1089/gtmb.2014.0251. PMID: 25594150Free PMC Article
Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H
Asian J Androl 2007 Sep;9(5):674-8. doi: 10.1111/j.1745-7262.2007.00290.x. PMID: 17712485

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...