Spermatogenic failure 60(SPGF60)

MedGen UID:: 1794245
•Concept ID:: C5562035
•: Disease or Syndrome

Synonym:	SPGF60

Gene (location): Gene(s) directly associated with this condition or phenotype.	TERB1 (16q22.1)

Monarch Initiative:	MONDO:0030493
OMIM®:	619646

Definition

Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO

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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Non-obstructive azoospermia

MedGen UID:: 866757
•Concept ID:: C4021107
•: Disease or Syndrome

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

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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

Professional guidelines

PubMed

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344 Free PMC Article

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Recent clinical studies

Etiology

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.

Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060 Free PMC Article

Combined proteomic and miRNome analyses of mouse testis exposed to an endocrine disruptors chemicals mixture reveals altered toxicological pathways involved in male infertility.

Buñay J, Larriba E, Patiño-Garcia D, Urriola-Muñoz P, Moreno RD, Del Mazo J
Mol Hum Reprod 2019 Mar 1;25(3):156-169. doi: 10.1093/molehr/gaz003. PMID: 30698749

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.

Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
J Hum Genet 2015 Mar;60(3):127-31. Epub 2015 Jan 8 doi: 10.1038/jhg.2014.115. PMID: 25566757

Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.

Sharma H, Mavuduru RS, Singh SK, Prasad R
Gene 2014 Sep 10;548(1):43-7. Epub 2014 Jul 7 doi: 10.1016/j.gene.2014.07.005. PMID: 25010724

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Diagnosis

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.

Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697 Free PMC Article

Translational aspects of novel findings in genetics of male infertility-status quo 2021.

Laan M, Kasak L, Punab M
Br Med Bull 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025. PMID: 34755838 Free PMC Article

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.

New insights into the genetics of spermatogenic failure: a review of the literature.

Cannarella R, Condorelli RA, Duca Y, La Vignera S, Calogero AE
Hum Genet 2019 Feb;138(2):125-140. Epub 2019 Jan 17 doi: 10.1007/s00439-019-01974-1. PMID: 30656449

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