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Spermatogenic failure 25(SPGF25)

MedGen UID:
1646677
•Concept ID:
C4693765
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 25; SPGF25
 
Gene (location): TEX15 (8p12)
 
Monarch Initiative: MONDO:0054729
OMIM®: 617960

Definition

Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic 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
Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
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
Spermatocyte maturation arrest
MedGen UID:
1372736
•Concept ID:
C4476925
•
Finding
A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.
See: Feature record | Search on this feature

Professional guidelines

PubMed

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

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.
Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis PC
Int J Androl 2002 Jun;25(3):153-8. doi: 10.1046/j.1365-2605.2002.00340.x. PMID: 12031043

Diagnosis

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free 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
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.
Cannarella R, Condorelli RA, Paolacci S, Barbagallo F, Guerri G, Bertelli M, La Vignera S, Calogero AE
Asian J Androl 2021 Jan-Feb;23(1):24-29. doi: 10.4103/aja.aja_25_20. PMID: 32655042Free PMC Article
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062

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
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

Prognosis

Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.
Sharma H, Mavuduru RS, Singh SK, Prasad R
Gene 2014 Sep 10;548(1):43-7. Epub 2014 Jul 7 doi: 10.1016/j.gene.2014.07.005. PMID: 25010724
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
Krausz C, Quintana-Murci L, McElreavey K
Hum Reprod 2000 Jul;15(7):1431-4. doi: 10.1093/humrep/15.7.1431. PMID: 10875846
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

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free 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
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article

Recent systematic reviews

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article

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    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
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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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