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Sertoli cell-only phenotype

MedGen UID:: 1815061
•Concept ID:: C5706155
•: Finding

HPO:	HP:0034299

Definition

A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSertoli cell-only phenotype

Abnormality of the genitourinary system
- Abnormality of the genital system
  - Abnormal reproductive system morphology
    - Abnormality of the male genitalia
      - Abnormal male external genitalia morphology
        Abnormal testis morphology
        Sertoli cell-only phenotype

Conditions with this feature

Congenital absence of germinal epithelium of testes

MedGen UID:: 235163
•Concept ID:: C1384583
•: Disease or Syndrome

A condition in which the seminiferous tubules are lined only by Sertoli cells.

See: Condition Record

Spermatogenic failure 32

MedGen UID:: 1648444
•Concept ID:: C4748253
•: Disease or Syndrome

Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.

See: Condition Record

Spermatogenic failure 71

MedGen UID:: 1801153
•Concept ID:: C5676963
•: Disease or Syndrome

Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia (Alhathal et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

See: Condition Record

Congenital absence of germinal epithelium of testes

Spermatogenic failure 32

Spermatogenic failure 71

Professional guidelines

PubMed

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

Management of males with 45,X/46,XY gonadal dysgenesis.

Müller J, Ritzén EM, Ivarsson SA, Rajpert-De Meyts E, Norjavaara E, Skakkebaek NE
Horm Res 1999;52(1):11-4. doi: 10.1159/000023425. PMID: 10640893

See all (2)

Recent clinical studies

Etiology

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.

Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926 Free PMC Article

Identification of two hidden clinical subgroups among men with idiopathic cryptozoospermia.

Schülke LC, Wistuba J, Nordhoff V, Behre HM, Cremers JF, Kliesch S, Di Persio S, Neuhaus N
Hum Reprod 2024 May 2;39(5):892-901. doi: 10.1093/humrep/deae013. PMID: 38365879 Free PMC Article

Analysis of copy number variation in men with non-obstructive azoospermia.

Wyrwoll MJ, Wabschke R, Röpke A, Wöste M, Ruckert C, Perrey S, Rotte N, Hardy J, Astica L, Lupiáñez DG, Wistuba J, Westernströer B, Schlatt S, Berman AJ, Müller AM, Kliesch S, Yatsenko AN, Tüttelmann F, Friedrich C
Andrology 2022 Nov;10(8):1593-1604. Epub 2022 Sep 23 doi: 10.1111/andr.13267. PMID: 36041235 Free PMC Article

Aberrant methylation of the TDMR of the GTF2A1L promoter does not affect fertilisation rates via TESE in patients with hypospermatogenesis.

Sugimoto K, Koh E, Iijima M, Taya M, Maeda Y, Namiki M
Asian J Androl 2013 Sep;15(5):634-9. Epub 2013 Jun 17 doi: 10.1038/aja.2013.56. PMID: 23770943 Free PMC Article

Claudin-11 and connexin-43 display altered spatial patterns of organization in men with primary seminiferous tubule failure compared with controls.

Haverfield JT, Meachem SJ, O'Bryan MK, McLachlan RI, Stanton PG
Fertil Steril 2013 Sep;100(3):658-66. Epub 2013 May 23 doi: 10.1016/j.fertnstert.2013.04.034. PMID: 23706332

See all (5)

Diagnosis

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.

Dicke AK, Pilatz A, Wyrwoll MJ, Punab M, Ruckert C, Nagirnaja L, Aston KI, Conrad DF, Di Persio S, Neuhaus N, Fietz D, Laan M, Stallmeyer B, Tüttelmann F
Commun Biol 2023 Mar 31;6(1):350. doi: 10.1038/s42003-023-04714-4. PMID: 36997603 Free PMC Article

Analysis of copy number variation in men with non-obstructive azoospermia.

See all (3)

Therapy

Identification of two hidden clinical subgroups among men with idiopathic cryptozoospermia.

Schülke LC, Wistuba J, Nordhoff V, Behre HM, Cremers JF, Kliesch S, Di Persio S, Neuhaus N
Hum Reprod 2024 May 2;39(5):892-901. doi: 10.1093/humrep/deae013. PMID: 38365879 Free PMC Article

See all (1)

Prognosis

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.

See all (1)

Clinical prediction guides

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.

Xenotransplantation exposes the etiology of azoospermia factor (AZF) induced male sterility.

Barr J, Gordon D, Schedl P, Deshpande G
Bioessays 2015 Mar;37(3):278-83. Epub 2014 Dec 18 doi: 10.1002/bies.201400134. PMID: 25524208 Free PMC Article

Claudin-11 and connexin-43 display altered spatial patterns of organization in men with primary seminiferous tubule failure compared with controls.

Haverfield JT, Meachem SJ, O'Bryan MK, McLachlan RI, Stanton PG
Fertil Steril 2013 Sep;100(3):658-66. Epub 2013 May 23 doi: 10.1016/j.fertnstert.2013.04.034. PMID: 23706332

Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype.

Choi J, Koh E, Suzuki H, Maeda Y, Yoshida A, Namiki M
Int J Urol 2007 May;14(5):431-5. doi: 10.1111/j.1442-2042.2007.01741.x. PMID: 17511727

Transgenic male mice expressing human hydroxysteroid dehydrogenase 2 indicate a role for the enzyme independent of its action on sex steroids.

Zhongyi S, Rantakari P, Lamminen T, Toppari J, Poutanen M
Endocrinology 2007 Aug;148(8):3827-36. Epub 2007 May 17 doi: 10.1210/en.2007-0365. PMID: 17510238

See all (7)

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Sertoli cell-only phenotype

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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