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Spermatogenic failure 37(SPGF37)

MedGen UID:: 1677534
•Concept ID:: C5193091
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 37; SPGF37

Gene (location): Gene(s) directly associated with this condition or phenotype.	TTC21A (3p22.2)

Monarch Initiative:	MONDO:0032744
OMIM®:	618429

Definition

Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019). For a general description and a 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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Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

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Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

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

Comparison of intracytoplasmic sperm injection (ICSI) outcomes in infertile men with spermatogenic impairment of differing severity.

Ping P, Zheng Z, Ma Y, Zou SS, Chen XF
Asian J Androl 2022 May-Jun;24(3):299-304. doi: 10.4103/aja202151. PMID: 34677147 Free PMC Article

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.

Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142

Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A
PLoS One 2011 Apr 29;6(4):e19426. doi: 10.1371/journal.pone.0019426. PMID: 21559371 Free PMC Article

See all (9)

Diagnosis

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

Genetics of Azoospermia.

Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855 Free PMC Article

Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure.

Hu M, Li L, Liu S, Lou Y, Wang L, Le F, Li H, Wang Q, Lou H, Wang N, Jin F
J Assist Reprod Genet 2020 Feb;37(2):331-340. Epub 2020 Jan 25 doi: 10.1007/s10815-019-01686-5. PMID: 31983050 Free PMC Article

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

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Araujo TF, Friedrich C, Grangeiro CHP, Martelli LR, Grzesiuk JD, Emich J, Wyrwoll MJ, Kliesch S, Simões AL, Tüttelmann F
Andrology 2020 Mar;8(2):434-441. Epub 2019 Nov 22 doi: 10.1111/andr.12704. PMID: 31479588

See all (8)

Therapy

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

See all (1)

Prognosis

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.

Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Serum levels of inhibin B in men with different causes of spermatogenic failure.

Bohring C, Krause W
Andrologia 1999 May;31(3):137-41. PMID: 10363117

Follow-up of men in the recovery period immediately after the cessation of gossypol treatment.

Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Contraception 1988 Feb;37(2):119-28. doi: 10.1016/0010-7824(88)90122-9. PMID: 3131064

See all (5)

Clinical prediction guides

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

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.

Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142

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

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

See all (8)

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Spermatogenic failure 37(SPGF37)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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