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Spermatogenic failure 44(SPGF44)

MedGen UID:
1750188
Concept ID:
C5436678
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 44; SPGF44
 
Gene (location): CEP112 (17q24.1)
 
Monarch Initiative: MONDO:0033622
OMIM®: 619044

Definition

Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha 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.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Acephalic spermatozoa
MedGen UID:
868304
Concept ID:
C4022698
Disease or Syndrome
Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
Abnormal circulating testosterone concentration
MedGen UID:
663334
Concept ID:
C0580454
Finding
An anomalous concentration of testosterone in the blood.

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
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
Liu C, Zhao X, Mu C, Li H, Ma J, Jiao H, Huo Z
Hum Hered 2019;84(3):144-150. Epub 2019 Dec 5 doi: 10.1159/000504607. PMID: 31805572
Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L
Gene 2014 Sep 1;547(2):191-4. Epub 2014 May 28 doi: 10.1016/j.gene.2014.05.061. PMID: 24878370
Plotton I, Garby L, Morel Y, Lejeune H
Andrologia 2012 Oct;44(5):349-54. Epub 2011 Mar 25 doi: 10.1111/j.1439-0272.2010.01092.x. PMID: 21486417

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
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

Therapy

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
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

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

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
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
Plotton I, Garby L, Morel Y, Lejeune H
Andrologia 2012 Oct;44(5):349-54. Epub 2011 Mar 25 doi: 10.1111/j.1439-0272.2010.01092.x. PMID: 21486417
Zhang F, Lu C, Li Z, Xie P, Xia Y, Zhu X, Wu B, Cai X, Wang X, Qian J, Wang X, Jin L
J Med Genet 2007 Jul;44(7):437-44. Epub 2007 Apr 5 doi: 10.1136/jmg.2007.049056. PMID: 17412880Free PMC Article

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