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Spermatogenic failure 48(SPGF48)

MedGen UID:: 1761843
•Concept ID:: C5436823
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 48; SPGF48

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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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.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Recombinant gonadotropin therapy to improve spermatogenesis in nonobstructive azoospermic patients - A proof of concept study.

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: 35168313 Free PMC Article

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia.

S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN
J Clin Lab Anal 2022 Mar;36(3):e24272. Epub 2022 Feb 5 doi: 10.1002/jcla.24272. PMID: 35122324 Free PMC Article

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

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: 32554749 Free PMC Article

Seminal plasma microRNAs: potential biomarkers for spermatogenesis status.

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

Lack of association between DAZ gene methylation patterns and spermatogenic failure.

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

See all (9)

Diagnosis

Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations.

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: 32925763 Free PMC Article

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

AZF deletions in Indian populations: original study and meta-analyses.

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: 31919744 Free PMC Article

Lack of association between DAZ gene methylation patterns and spermatogenic failure.

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

Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.

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

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Therapy

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Multicenter contraceptive efficacy trial of injectable testosterone undecanoate in Chinese men.

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

See all (2)

Prognosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

See all (1)

Clinical prediction guides

Testicular quantitative ultrasound: A noninvasive monitoring method for evaluating spermatogenic function in busulfan-induced testicular injury mouse models.

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

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

AZF deletions in Indian populations: original study and meta-analyses.

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: 31919744 Free PMC Article

Screening for AZFc partial deletions in Dravidian men with nonobstructive azoospermia and oligozoospermia.

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: 25594150 Free PMC Article

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

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

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Spermatogenic failure 48(SPGF48)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

Clinical resources

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