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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

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
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
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

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Testis cell pyroptosis mediated by CASP1 and CASP4: possible sertoli cell-only syndrome pathogenesis.
Liu W, Li X, Ma Q, Zhu Y, Zhao W, Yang Y, Xiao W, Huang D, Cai F, Chan DYL, Zhao S, Chu Q
Reprod Biol Endocrinol 2023 Jun 9;21(1):53. doi: 10.1186/s12958-023-01101-w. PMID: 37296437Free PMC Article
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
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

Diagnosis

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis.
Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.
Wang X, Liu X, Qu M, Li H
Cell Mol Life Sci 2023 Feb 23;80(3):67. doi: 10.1007/s00018-023-04723-w. PMID: 36814036
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
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

Therapy

Azoospermia factor c microdeletions and outcomes of assisted reproductive technology: a systematic review and meta-analysis.
Colaco S, Modi D
Fertil Steril 2024 Jan;121(1):63-71. Epub 2023 Nov 3 doi: 10.1016/j.fertnstert.2023.10.029. PMID: 37923163
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

Prognosis

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis.
Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
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
Volumetric apparent diffusion coefficient histogram analysis of the testes in nonobstructive azoospermia: a noninvasive fingerprint of impaired spermatogenesis?
Tsili AC, Astrakas LG, Goussia AC, Sofikitis N, Argyropoulou MI
Eur Radiol 2022 Nov;32(11):7522-7531. Epub 2022 Apr 29 doi: 10.1007/s00330-022-08817-0. PMID: 35484338
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

Clinical prediction guides

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis.
Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Testis cell pyroptosis mediated by CASP1 and CASP4: possible sertoli cell-only syndrome pathogenesis.
Liu W, Li X, Ma Q, Zhu Y, Zhao W, Yang Y, Xiao W, Huang D, Cai F, Chan DYL, Zhao S, Chu Q
Reprod Biol Endocrinol 2023 Jun 9;21(1):53. doi: 10.1186/s12958-023-01101-w. PMID: 37296437Free PMC Article
Morphology of the male rat gonad after in Utero exposure to immunosuppressants.
Freus M, Kabat-Koperska J, Frulenko I, Wiszniewska B, Kolasa A
Reprod Biol 2023 Jun;23(2):100757. Epub 2023 Apr 1 doi: 10.1016/j.repbio.2023.100757. PMID: 37011422
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
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

Azoospermia factor c microdeletions and outcomes of assisted reproductive technology: a systematic review and meta-analysis.
Colaco S, Modi D
Fertil Steril 2024 Jan;121(1):63-71. Epub 2023 Nov 3 doi: 10.1016/j.fertnstert.2023.10.029. PMID: 37923163
Predictors of successful salvage microdissection testicular sperm extraction (mTESE) after failed initial TESE in patients with non-obstructive azoospermia: A systematic review and meta-analysis.
Zhang F, Dai M, Yang X, Cheng Y, Ye L, Huang W, Chen X, Yin T, Sha Y
Andrology 2024 Jan;12(1):30-44. Epub 2023 May 22 doi: 10.1111/andr.13448. PMID: 37172416
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

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