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Spermatogenic failure 30(SPGF30)

MedGen UID:
1648394
Concept ID:
C4748224
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 30; SPGF30
 
Gene (location): TDRD9 (14q32.33)
 
Monarch Initiative: MONDO:0020851
OMIM®: 618110

Definition

Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). 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.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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.
Cryptozoospermia
MedGen UID:
481180
Concept ID:
C3279550
Disease or Syndrome
A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.
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.

Professional guidelines

PubMed

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article

Recent clinical studies

Etiology

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami A, McElreavy K, Ammar-Keskes L
Hum Fertil (Camb) 2023 Dec;26(5):1238-1247. Epub 2023 Jan 2 doi: 10.1080/14647273.2022.2163194. PMID: 36591797
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: 34677147Free PMC Article
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: 33868165Free PMC Article
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

Diagnosis

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. PMID: 31577257Free PMC Article
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675

Therapy

Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
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: 35535697Free PMC Article
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: 33868165Free PMC Article
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
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

Prognosis

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: 33868165Free PMC Article
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
Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578
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

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Glinsky GV
Mol Genet Genomics 2022 Nov;297(6):1711-1740. Epub 2022 Sep 19 doi: 10.1007/s00438-022-01954-7. PMID: 36121513Free PMC Article
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
Lardone MC, Marengo A, Parada-Bustamante A, Cifuentes L, Piottante A, Ebensperger M, Valdevenito R, Castro A
J Assist Reprod Genet 2013 Apr;30(4):531-8. Epub 2013 Feb 8 doi: 10.1007/s10815-013-9950-z. PMID: 23388839Free PMC Article
Lardone MC, Castillo P, Valdevenito R, Ebensperger M, Ronco AM, Pommer R, Piottante A, Castro A
Int J Androl 2010 Aug 1;33(4):650-60. Epub 2009 Nov 3 doi: 10.1111/j.1365-2605.2009.01002.x. PMID: 19906189

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