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Spermatogenic failure 39(SPGF39)

MedGen UID:
1684778
Concept ID:
C5231438
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 39; SPGF39
 
Gene (location): DNAH17 (17q25.3)
 
Monarch Initiative: MONDO:0032845
OMIM®: 618643

Definition

Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. In some patients, spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella. Abnormalities of the sperm head and midpiece have also been observed, and ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells. In other patients, sperm do not exhibit MMAF, and ultrastructural analysis shows that many flagella lack 1 or more of microtubule doublets (MTDs) 4 to 7 at the principal piece or end piece; however, ODAs are present at the remaining MTDs (Whitfield et al., 2019; Zhang et al., 2020). For 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.
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.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Tapered sperm head
MedGen UID:
1635505
Concept ID:
C2208973
Finding
Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
Absent sperm flagella
MedGen UID:
1623855
Concept ID:
C4539786
Finding
Sperm cells lacking flagella.
Short sperm flagella
MedGen UID:
1623693
Concept ID:
C4539787
Finding
Sperm cells with abnormally short flagella.
Coiled sperm flagella
MedGen UID:
1611216
Concept ID:
C4539789
Finding
Sperm cells whose flagella are twisted (coiled).

Recent clinical studies

Etiology

Cerván-Martín M, González-Muñoz S, Guzmán-Jiménez A, Higueras-Serrano I, Castilla JA, Garrido N, Luján S, Bassas L, Seixas S, Gonçalves J, Lopes AM, Larriba S, Palomino-Morales RJ, Bossini-Castillo L, Carmona FD
Hum Reprod 2024 Mar 1;39(3):612-622. doi: 10.1093/humrep/deae007. PMID: 38305414
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Tang D, Lv M, Gao Y, Cheng H, Li K, Xu C, Geng H, Li G, Shen Q, Wang C, He X, Cao Y
Reprod Biol Endocrinol 2021 Aug 24;19(1):129. doi: 10.1186/s12958-021-00815-z. PMID: 34429122Free PMC Article
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
Teng YN, Lin YM, Lin YH, Tsao SY, Hsu CC, Lin SJ, Tsai WC, Kuo PL
J Clin Endocrinol Metab 2002 Nov;87(11):5258-64. doi: 10.1210/jc.2002-020016. PMID: 12414900

Diagnosis

Cerván-Martín M, González-Muñoz S, Guzmán-Jiménez A, Higueras-Serrano I, Castilla JA, Garrido N, Luján S, Bassas L, Seixas S, Gonçalves J, Lopes AM, Larriba S, Palomino-Morales RJ, Bossini-Castillo L, Carmona FD
Hum Reprod 2024 Mar 1;39(3):612-622. doi: 10.1093/humrep/deae007. PMID: 38305414
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M
Hum Mutat 2018 Jun;39(6):830-833. Epub 2018 Apr 10 doi: 10.1002/humu.23423. PMID: 29570232
Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L
Yi Chuan Xue Bao 2006 Feb;33(2):111-6. doi: 10.1016/s0379-4172(06)60029-2. PMID: 16529294
Tschanter P, Kostova E, Luetjens CM, Cooper TG, Nieschlag E, Gromoll J
Hum Reprod 2004 Dec;19(12):2771-6. Epub 2004 Nov 1 doi: 10.1093/humrep/deh522. PMID: 15520024

Therapy

Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468
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

Prognosis

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

Clinical prediction guides

Cerván-Martín M, González-Muñoz S, Guzmán-Jiménez A, Higueras-Serrano I, Castilla JA, Garrido N, Luján S, Bassas L, Seixas S, Gonçalves J, Lopes AM, Larriba S, Palomino-Morales RJ, Bossini-Castillo L, Carmona FD
Hum Reprod 2024 Mar 1;39(3):612-622. doi: 10.1093/humrep/deae007. PMID: 38305414
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M
Hum Mutat 2018 Jun;39(6):830-833. Epub 2018 Apr 10 doi: 10.1002/humu.23423. PMID: 29570232
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

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