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Spermatogenic failure 36(SPGF36)

MedGen UID:
1678385
•Concept ID:
C5193086
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 36; SPGF36
 
Gene (location): PPP2R3C (14q13.2)
 
Monarch Initiative: MONDO:0032739
OMIM®: 618420

Definition

Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019). For a general description and 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.
See: Feature record | Search on this feature
Abnormal sperm morphology
MedGen UID:
588677
•Concept ID:
C0403824
•
Finding
A structural anomaly of sperm.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
Paladhi P, Dutta S, Pal S, Bose G, Ghosh P, Chattopadhyay R, Chakravarty B, Saha I, Ghosh S
Reprod Sci 2022 Apr;29(4):1241-1261. Epub 2022 Jan 18 doi: 10.1007/s43032-021-00839-1. PMID: 35041134
Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
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
Quantitative histological analysis and ultrastructure of the aging human testis.
Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275
Deregulation of EZH2 expression in human spermatogenic disorders and testicular germ cell tumors.
Hinz S, Magheli A, Weikert S, Schulze W, Krause H, Schrader M, Miller K, Kempkensteffen C
World J Urol 2010 Oct;28(5):631-5. Epub 2009 Dec 31 doi: 10.1007/s00345-009-0498-6. PMID: 20043168
Y chromosome polymorphisms in medicine.
Krausz C, Quintana-Murci L, Forti G
Ann Med 2004;36(8):573-83. doi: 10.1080/07853890410018853. PMID: 15768829

Diagnosis

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
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
Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
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
Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure.
Hu M, Li L, Liu S, Lou Y, Wang L, Le F, Li H, Wang Q, Lou H, Wang N, Jin F
J Assist Reprod Genet 2020 Feb;37(2):331-340. Epub 2020 Jan 25 doi: 10.1007/s10815-019-01686-5. PMID: 31983050Free PMC Article
No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population.
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
Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

Therapy

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
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
Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
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
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847
Contraceptive efficacy of a depot progestin and androgen combination in men.
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

Prognosis

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
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
Consequences of Y chromosome microdeletions beyond male infertility.
Colaco S, Modi D
J Assist Reprod Genet 2019 Jul;36(7):1329-1337. Epub 2019 Jun 18 doi: 10.1007/s10815-019-01492-z. PMID: 31214882Free PMC Article
Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.
Jiang Y, Wang R, Li L, Xue L, Deng S, Liu R
Mol Med Rep 2017 Sep;16(3):3433-3438. Epub 2017 Jul 14 doi: 10.3892/mmr.2017.6981. PMID: 28713994

Clinical prediction guides

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
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
Ginsenoside Rg1 ameliorates reproductive function injury in C57BL/6J mice induced by di-N-butyl-phthalate.
Xu X, Qu Z, Qian H, Li Z, Sun X, Zhao X, Li H
Environ Toxicol 2021 May;36(5):789-799. Epub 2020 Dec 17 doi: 10.1002/tox.23081. PMID: 33331133
Meiotic arrest occurs most frequently at metaphase and is often incomplete in azoospermic men.
Enguita-Marruedo A, Sleddens-Linkels E, Ooms M, de Geus V, Wilke M, Blom E, Dohle GR, Looijenga LHJ, van Cappellen W, Baart EB, Baarends WM
Fertil Steril 2019 Dec;112(6):1059-1070.e3. Epub 2019 Nov 22 doi: 10.1016/j.fertnstert.2019.08.004. PMID: 31767154
Consequences of Y chromosome microdeletions beyond male infertility.
Colaco S, Modi D
J Assist Reprod Genet 2019 Jul;36(7):1329-1337. Epub 2019 Jun 18 doi: 10.1007/s10815-019-01492-z. PMID: 31214882Free PMC Article
Gonadotropin-regulated testicular RNA helicase (GRTH/DDX25): a multifunctional protein essential for spermatogenesis.
Tsai-Morris CH, Sheng Y, Gutti RK, Tang PZ, Dufau ML
J Androl 2010 Jan-Feb;31(1):45-52. Epub 2009 Oct 29 doi: 10.2164/jandrol.109.008219. PMID: 19875492Free PMC Article

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