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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.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.

Term Hierarchy

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

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

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
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
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: 36814036Free PMC Article
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
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

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
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
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
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
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

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
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
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
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
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

Clinical prediction guides

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
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
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
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
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

Recent systematic reviews

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
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
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
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
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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