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Spermatogenic failure 83(SPGF83)

MedGen UID:: 1841106
•Concept ID:: C5830470
•: Disease or Syndrome

Synonym:	SPGF83

Gene (location): Gene(s) directly associated with this condition or phenotype.	DNALI1 (1p34.3)

Monarch Initiative:	MONDO:0957250
OMIM®:	620354

Definition

Spermatogenic failure-83 (SPGF83) is characterized by male infertility due to asthenozoospermia. Patient sperm are immotile, and exhibit an asymmetric fibrous sheath of the flagella (Wu et al., 2023). Patients with reduced sperm motility due to morphologic abnormalities of the flagella (asthenoteratozoospermia) and patients with reduced sperm counts as well as flagellar defects and reduced or absent motility (oligoasthenoteratozoospermia) have been observed (Sha et al., 2022; Zhang et al., 2024). 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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Reduced sperm motility

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

An abnormal reduction in the mobility of ejaculated sperm.

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Reduced progressive sperm motility

MedGen UID:: 1730031
•Concept ID:: C5436680
•: Finding

A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

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Altered location of the longitudinal column in the fibrous sheath

MedGen UID:: 1841958
•Concept ID:: C5826792
•: Finding

The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and transverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.

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Abnormality of the genitourinary system

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

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165 Free PMC Article

Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.

Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552

Post-thaw recovery of rare or very low concentrations of cryopreserved human sperm.

Kathrins M, Abhyankar N, Shoshany O, Liebermann J, Uhler M, Prins G, Niederberger C
Fertil Steril 2017 Jun;107(6):1300-1304. Epub 2017 May 5 doi: 10.1016/j.fertnstert.2017.04.016. PMID: 28483505

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548

See all (12)

Diagnosis

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

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

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

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 (6)

Therapy

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.

Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552

Recovery of sperm production following the cessation of gossypol treatment: a two-centre study in China.

Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Int J Androl 1988 Feb;11(1):1-11. doi: 10.1111/j.1365-2605.1988.tb01211.x. PMID: 3356480

See all (3)

Prognosis

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

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

CHD7 missense variants and clinical characteristics of Chinese males with infertility.

Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075 Free PMC Article

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 (6)

Clinical prediction guides

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

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

CHD7 missense variants and clinical characteristics of Chinese males with infertility.

Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075 Free PMC Article

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Expression levels of the inhibitor of apoptosis survivin in testes of patients with normal spermatogenesis and spermatogenic failure.

Weikert S, Schrader M, Müller M, Schulze W, Krause H, Miller K
Fertil Steril 2005 Apr;83 Suppl 1:1100-5. doi: 10.1016/j.fertnstert.2004.12.010. PMID: 15831281

See all (9)

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Spermatogenic failure 83(SPGF83)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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