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Spermatogenic failure 22(SPGF22)

MedGen UID:
1618089
•Concept ID:
C4540179
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 22; SPGF22
 
Gene (location): MEIOB (16p13.3)
 
Monarch Initiative: MONDO:0054726
OMIM®: 617706

Definition

Spermatogenic failure-22 (SPGF22) is characterized by male infertility due to spermatocyte maturation arrest resulting in cryptozoospermia or azoospermia (Gershoni et al., 2017). 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Recent clinical studies

Etiology

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
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
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
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
Lardone MC, Reyes IN, Ortiz E, Piottante A, Palma C, Ebensperger M, Castro A
Andrology 2021 Mar;9(2):657-664. Epub 2020 Dec 30 doi: 10.1111/andr.12950. PMID: 33290605
High serum FSH is not a risk factor for low bone mineral density in infertile men.
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

Undiagnosed RASopathies in infertile men.
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free 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
Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625

Therapy

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
Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.
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
Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities.
Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T
Hum Reprod 2007 May;22(5):1279-84. Epub 2007 Feb 5 doi: 10.1093/humrep/del513. PMID: 17283037
CAG repeat length in the androgen receptor gene and gonadotrophin suppression influence the effectiveness of hormonal male contraception.
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
Recovery of sperm production following the cessation of gossypol treatment: a two-centre study in China.
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

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
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
High serum FSH is not a risk factor for low bone mineral density in infertile men.
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
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Clinical prediction guides

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free 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
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
Lardone MC, Reyes IN, Ortiz E, Piottante A, Palma C, Ebensperger M, Castro A
Andrology 2021 Mar;9(2):657-664. Epub 2020 Dec 30 doi: 10.1111/andr.12950. PMID: 33290605
High serum FSH is not a risk factor for low bone mineral density in infertile men.
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
Mutations in the protamine locus: association with spermatogenic failure?
Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K
Mol Hum Reprod 2009 Nov;15(11):733-8. Epub 2009 Jul 14 doi: 10.1093/molehr/gap056. PMID: 19602509

Recent systematic reviews

A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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