U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 57(SPGF57)

MedGen UID:
1794198
Concept ID:
C5561988
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 57; SPGF57
 
Gene (location): PNLDC1 (6q25.3)
 
Monarch Initiative: MONDO:0030439
OMIM®: 619528

Definition

Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). 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.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Non-obstructive azoospermia
MedGen UID:
866757
Concept ID:
C4021107
Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
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.

Recent clinical studies

Etiology

Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
Kohan L, Tabiee O, Sepahi N
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:57-61. Epub 2019 Jun 13 doi: 10.1016/j.ejogrb.2019.06.014. PMID: 31228677
Chen P, Ma M, Li L, Zhang S, Su D, Ma Y, Liu Y, Tao D, Lin L, Yang Y
J Androl 2010 Mar-Apr;31(2):163-8. Epub 2009 Apr 2 doi: 10.2164/jandrol.108.007187. PMID: 19342699
Yang Y, Ma M, Li L, Zhang W, Chen P, Ma Y, Liu Y, Tao D, Lin L, Zhang S
Hum Reprod 2008 Sep;23(9):2167-72. Epub 2008 Jun 25 doi: 10.1093/humrep/den229. PMID: 18579508
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

Diagnosis

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
Ramasamy R, Stahl PJ, Schlegel PN
Asian J Androl 2012 Jan;14(1):57-60. Epub 2011 Dec 19 doi: 10.1038/aja.2011.63. PMID: 22179517Free PMC Article
Eckardstein SV, Schmidt A, Kamischke A, Simoni M, Gromoll J, Nieschlag E
Clin Endocrinol (Oxf) 2002 Nov;57(5):647-55. doi: 10.1046/j.1365-2265.2002.01652.x. PMID: 12390340

Clinical prediction guides

Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
Chen P, Ma M, Li L, Zhang S, Su D, Ma Y, Liu Y, Tao D, Lin L, Yang Y
J Androl 2010 Mar-Apr;31(2):163-8. Epub 2009 Apr 2 doi: 10.2164/jandrol.108.007187. PMID: 19342699

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...