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Congenital absence of germinal epithelium of testes(SPGFX1)

MedGen UID:
235163
•Concept ID:
C1384583
•
Disease or Syndrome
Synonyms: Del Castillo syndrome; Germinal cell aplasia; Sertoli Cell-Only Syndrome
SNOMED CT: Congenital absence of germinal epithelium of testes (73465006); Germinal aplasia (73465006); Sertoli-cell-only syndrome (73465006); Germinal cell absence (73465006); AZF - Azoospermia factor (73465006); Azoospermia factor (73465006); Gene deletion in AZF region of Y chromosome (73465006)
 
Monarch Initiative: MONDO:0010595
OMIM®: 305700

Definition

A condition in which the seminiferous tubules are lined only by Sertoli cells. [from NCI]

Clinical features

From HPO
Sertoli cell-only phenotype
MedGen UID:
1815061
•Concept ID:
C5706155
•
Finding
A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.
See: Feature record | Search on this feature
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Gynecomastia
MedGen UID:
6694
•Concept ID:
C0018418
•
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of germinal epithelium of testes

Professional guidelines

PubMed

Sertoli cell-only syndrome: etiology and clinical management.
Ghanami Gashti N, Sadighi Gilani MA, Abbasi M
J Assist Reprod Genet 2021 Mar;38(3):559-572. Epub 2021 Jan 11 doi: 10.1007/s10815-021-02063-x. PMID: 33428073Free PMC Article
Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility.
Olesen IA, Andersson AM, Aksglaede L, Skakkebaek NE, Rajpert-de Meyts E, Joergensen N, Juul A
Fertil Steril 2017 Jan;107(1):74-82.e7. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.09.015. PMID: 27793385
Biotechnological approaches to the treatment of aspermatogenic men.
Aponte PM, Schlatt S, Franca LR
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):157-67. doi: 10.6061/clinics/2013(sup01)18. PMID: 23503966Free PMC Article

Recent clinical studies

Etiology

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region.
Deng CY, Zhang Z, Tang WH, Jiang H
Asian J Androl 2023 Jan-Feb;25(1):5-12. doi: 10.4103/aja2021130. PMID: 35259786Free PMC Article
A systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities.
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
microRNAs in the pathogenesis of non-obstructive azoospermia: the underlying mechanisms and therapeutic potentials.
Rastgar Rezaei Y, Zarezadeh R, Nikanfar S, Oghbaei H, Nazdikbin N, Bahrami-Asl Z, Zarghami N, Ahmadi Y, Fattahi A, Nouri M, Dittrich R
Syst Biol Reprod Med 2021 Oct;67(5):337-353. Epub 2021 Aug 6 doi: 10.1080/19396368.2021.1951890. PMID: 34355990
Expression and localization of Septin 14 gene and protein in infertile men testis.
Vahabi Barzi N, Kakavand K, Sodeifi N, Ghezelayagh Z, Sabbaghian M
Reprod Biol 2020 Jun;20(2):164-168. Epub 2020 Apr 3 doi: 10.1016/j.repbio.2020.03.007. PMID: 32249155
Investigation of CD133 and CD24 as candidate azoospermia markers and their relationship with spermatogenesis defects.
Yukselten Y, Aydos OSE, Sunguroglu A, Aydos K
Gene 2019 Jul 20;706:211-221. Epub 2019 May 1 doi: 10.1016/j.gene.2019.04.028. PMID: 31054360

Diagnosis

Proteomics of azoospermia: Towards the discovery of reliable markers for non-invasive diagnosis.
Rusevski A, Plaseska-Karanfilska D, Davalieva K
Proteomics Clin Appl 2023 Jan;17(1):e2200060. Epub 2022 Oct 9 doi: 10.1002/prca.202200060. PMID: 36177695
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.
Tang D, Li K, Geng H, Xu C, Lv M, Gao Y, Wang G, Yu H, Shao Z, Shen Q, Jiang H, Zhang X, He X, Cao Y
Reprod Biol Endocrinol 2022 Apr 2;20(1):63. doi: 10.1186/s12958-022-00936-z. PMID: 35366911Free PMC Article
Sertoli cell-only syndrome: etiology and clinical management.
Ghanami Gashti N, Sadighi Gilani MA, Abbasi M
J Assist Reprod Genet 2021 Mar;38(3):559-572. Epub 2021 Jan 11 doi: 10.1007/s10815-021-02063-x. PMID: 33428073Free 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
MicroRNAs in Sertoli cells: implications for spermatogenesis and fertility.
Procópio MS, de Avelar GF, Costa GMJ, Lacerda SMSN, Resende RR, de França LR
Cell Tissue Res 2017 Dec;370(3):335-346. Epub 2017 Aug 4 doi: 10.1007/s00441-017-2667-z. PMID: 28779347

Therapy

Spermatogenesis Abnormalities following Hormonal Therapy in Transwomen.
Jindarak S, Nilprapha K, Atikankul T, Angspatt A, Pungrasmi P, Iamphongsai S, Promniyom P, Suwajo P, Selvaggi G, Tiewtranon P
Biomed Res Int 2018;2018:7919481. Epub 2018 Apr 2 doi: 10.1155/2018/7919481. PMID: 29808166Free PMC Article
Possible fetal determinants of male infertility.
Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review.
Deruyver Y, Vanderschueren D, Van der Aa F
Andrology 2014 Jan;2(1):20-4. Epub 2013 Nov 6 doi: 10.1111/j.2047-2927.2013.00148.x. PMID: 24193894
Testicular dysgenesis syndrome: foetal origin of adult reproductive problems.
Wohlfahrt-Veje C, Main KM, Skakkebaek NE
Clin Endocrinol (Oxf) 2009 Oct;71(4):459-65. Epub 2009 Feb 16 doi: 10.1111/j.1365-2265.2009.03545.x. PMID: 19222487
Which is the best sperm retrieval technique for non-obstructive azoospermia? A systematic review.
Donoso P, Tournaye H, Devroey P
Hum Reprod Update 2007 Nov-Dec;13(6):539-49. Epub 2007 Sep 24 doi: 10.1093/humupd/dmm029. PMID: 17895238

Prognosis

Proteomics of azoospermia: Towards the discovery of reliable markers for non-invasive diagnosis.
Rusevski A, Plaseska-Karanfilska D, Davalieva K
Proteomics Clin Appl 2023 Jan;17(1):e2200060. Epub 2022 Oct 9 doi: 10.1002/prca.202200060. PMID: 36177695
Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome.
Chen T, Wang Y, Tian L, Guo X, Xia J, Wang Z, Song N
Front Immunol 2022;13:821010. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.821010. PMID: 35833143Free PMC Article
A systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities.
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.
Kleiman SE, Yogev L, Lehavi O, Yavetz H, Hauser R
J Assist Reprod Genet 2016 Jun;33(6):807-14. Epub 2016 Mar 19 doi: 10.1007/s10815-016-0698-0. PMID: 26995389Free PMC Article

Clinical prediction guides

Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome.
Chen T, Wang Y, Tian L, Guo X, Xia J, Wang Z, Song N
Front Immunol 2022;13:821010. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.821010. PMID: 35833143Free PMC Article
A systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities.
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
Immunohistochemical measurement and expression of Mcl-1 in infertile testes.
Hegazy R, Hegazy A, Ammar M, Salem E
Front Med 2015 Sep;9(3):361-7. Epub 2015 Jun 17 doi: 10.1007/s11684-015-0395-x. PMID: 26085468
Developmental expression and function of DKKL1/Dkkl1 in humans and mice.
Yan Q, Wu X, Chen C, Diao R, Lai Y, Huang J, Chen J, Yu Z, Gui Y, Tang A, Cai Z
Reprod Biol Endocrinol 2012 Jul 21;10:51. doi: 10.1186/1477-7827-10-51. PMID: 22817830Free PMC Article

Recent systematic reviews

Proteomics of azoospermia: Towards the discovery of reliable markers for non-invasive diagnosis.
Rusevski A, Plaseska-Karanfilska D, Davalieva K
Proteomics Clin Appl 2023 Jan;17(1):e2200060. Epub 2022 Oct 9 doi: 10.1002/prca.202200060. PMID: 36177695
A systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities.
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H
Andrologia 2022 Apr;54(3):e14303. Epub 2021 Nov 2 doi: 10.1111/and.14303. PMID: 34729809
Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review.
Deruyver Y, Vanderschueren D, Van der Aa F
Andrology 2014 Jan;2(1):20-4. Epub 2013 Nov 6 doi: 10.1111/j.2047-2927.2013.00148.x. PMID: 24193894
Which is the best sperm retrieval technique for non-obstructive azoospermia? A systematic review.
Donoso P, Tournaye H, Devroey P
Hum Reprod Update 2007 Nov-Dec;13(6):539-49. Epub 2007 Sep 24 doi: 10.1093/humupd/dmm029. PMID: 17895238

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