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Spermatogenic failure 77(SPGF77)

MedGen UID:
1824018
•Concept ID:
C5774245
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 77; SPGF77
 
Gene (location): FKBP6 (7q11.23)
 
Monarch Initiative: MONDO:0031083
OMIM®: 620103

Definition

Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (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.
See: Feature record | Search on this feature
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).
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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.
See: Feature record | Search on this feature
Oligozoospermia
MedGen UID:
678638
•Concept ID:
C0868910
•
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
See: Feature record | Search on this feature
Multiflagellar spermatozoa
MedGen UID:
368862
•Concept ID:
C1968692
•
Finding
Spermatozoa with multiple flagella attached to the sperm head.
See: Feature record | Search on this feature
Abnormal circulating luteinizing hormone concentration
MedGen UID:
663319
•Concept ID:
C0580438
•
Finding
An anomaly of the circulating level of luteinizing hormone (LH).
See: Feature record | Search on this feature
Abnormal circulating testosterone concentration
MedGen UID:
663334
•Concept ID:
C0580454
•
Finding
An anomalous concentration of testosterone in the blood.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Comparison of intracytoplasmic sperm injection (ICSI) outcomes in infertile men with spermatogenic impairment of differing severity.
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
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study.
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY
Asian J Androl 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. PMID: 32362598Free PMC Article
Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
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
AZFc partial deletions in Chilean men with severe spermatogenic failure.
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365
Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure.
Lin YM, Lin YH, Teng YN, Hsu CC, Shinn-Nan Lin J, Kuo PL
Fertil Steril 2002 May;77(5):897-903. doi: 10.1016/s0015-0282(02)03059-5. PMID: 12009341

Diagnosis

AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article
AZFc partial deletions in Chilean men with severe spermatogenic failure.
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365

Prognosis

Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
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

Clinical prediction guides

AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article
Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
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
Y chromosome gr/gr subdeletion is associated with lower semen quality in young men from the general Japanese population but not in fertile Japanese Men.
Sato Y, Iwamoto T, Shinka T, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Yamauchi A, Nakahori Y
Biol Reprod 2014 Jun;90(6):116. Epub 2014 Apr 23 doi: 10.1095/biolreprod.114.118810. PMID: 24759788
AZFc partial deletions in Chilean men with severe spermatogenic failure.
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365
Leydig cell micronodules are a common finding in testicular biopsies from men with impaired spermatogenesis and are associated with decreased testosterone/LH ratio.
Holm M, Rajpert-De Meyts E, Andersson AM, Skakkebaek NE
J Pathol 2003 Mar;199(3):378-86. doi: 10.1002/path.1309. PMID: 12579540

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