U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Testicular dysgenesis syndrome

MedGen UID:
754060
•Concept ID:
C2919755
•
Disease or Syndrome
Synonym: testicular dysgenesis syndrome
SNOMED CT: Testicular dysgenesis syndrome (445338005)
 
Monarch Initiative: MONDO:0005437

Definition

A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. [from MONDO]

Professional guidelines

PubMed

Testicular microlithiasis: Systematic review and Clinical guidelines.
Aoun F, Slaoui A, Naoum E, Hassan T, Albisinni S, Azzo JM, Kallas-Chemaly A, Assenmacher G, Peltier A, Roumeguère T
Prog Urol 2019 Sep;29(10):465-473. Epub 2019 Aug 2 doi: 10.1016/j.purol.2019.07.001. PMID: 31383508
Is testicular dysgenesis syndrome a genetic, endocrine, or environmental disease, or an unexplained reproductive disorder?
Xing JS, Bai ZM
Life Sci 2018 Feb 1;194:120-129. Epub 2017 Nov 26 doi: 10.1016/j.lfs.2017.11.039. PMID: 29183799
Hypogonadism and fertility issues following primary treatment for testicular cancer.
Oldenburg J
Urol Oncol 2015 Sep;33(9):407-12. Epub 2015 Feb 24 doi: 10.1016/j.urolonc.2015.01.014. PMID: 25736189

Recent clinical studies

Etiology

Association between testicular cancer and microlithiasis.
Betancourt Sevilla MD, Granda González DF
Actas Urol Esp (Engl Ed) 2022 Dec;46(10):587-599. Epub 2022 Jul 29 doi: 10.1016/j.acuroe.2022.07.002. PMID: 36216765
Endocrine disruptors and testicular function.
Lymperi S, Giwercman A
Metabolism 2018 Sep;86:79-90. Epub 2018 Mar 29 doi: 10.1016/j.metabol.2018.03.022. PMID: 29605435
Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility.
Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, Ziebe S, Priskorn L, Juul A
Physiol Rev 2016 Jan;96(1):55-97. doi: 10.1152/physrev.00017.2015. PMID: 26582516Free PMC Article
Cryptorchidism --disease or symptom?
Toppari J, Rodprasert W, Virtanen HE
Ann Endocrinol (Paris) 2014 May;75(2):72-6. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.010. PMID: 24786701
Testicular dysgenesis syndrome.
Skakkebaek NE
Horm Res 2003;60 Suppl 3:49. doi: 10.1159/000074499. PMID: 14671395

Diagnosis

Male Infertility and the Risk of Developing Testicular Cancer: A Critical Contemporary Literature Review.
Maiolino G, Fernández-Pascual E, Ochoa Arvizo MA, Vishwakarma R, Martínez-Salamanca JI
Medicina (Kaunas) 2023 Jul 14;59(7) doi: 10.3390/medicina59071305. PMID: 37512119Free PMC Article
Testicular microlithiasis and testicular cancer: review of the literature.
Pedersen MR, Rafaelsen SR, Møller H, Vedsted P, Osther PJ
Int Urol Nephrol 2016 Jul;48(7):1079-86. Epub 2016 Mar 23 doi: 10.1007/s11255-016-1267-2. PMID: 27007613
Anogenital distance as a marker of androgen exposure in humans.
Thankamony A, Pasterski V, Ong KK, Acerini CL, Hughes IA
Andrology 2016 Jul;4(4):616-25. Epub 2016 Feb 4 doi: 10.1111/andr.12156. PMID: 26846869Free PMC Article
Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility.
Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, Ziebe S, Priskorn L, Juul A
Physiol Rev 2016 Jan;96(1):55-97. doi: 10.1152/physrev.00017.2015. PMID: 26582516Free PMC Article
Cryptorchidism --disease or symptom?
Toppari J, Rodprasert W, Virtanen HE
Ann Endocrinol (Paris) 2014 May;75(2):72-6. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.010. PMID: 24786701

Therapy

Bisphenols and Leydig Cell Development and Function.
Li X, Wen Z, Wang Y, Mo J, Zhong Y, Ge RS
Front Endocrinol (Lausanne) 2020;11:447. Epub 2020 Jul 31 doi: 10.3389/fendo.2020.00447. PMID: 32849262Free PMC Article
Is testicular dysgenesis syndrome a genetic, endocrine, or environmental disease, or an unexplained reproductive disorder?
Xing JS, Bai ZM
Life Sci 2018 Feb 1;194:120-129. Epub 2017 Nov 26 doi: 10.1016/j.lfs.2017.11.039. PMID: 29183799
Cryptorchidism --disease or symptom?
Toppari J, Rodprasert W, Virtanen HE
Ann Endocrinol (Paris) 2014 May;75(2):72-6. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.010. PMID: 24786701
Metabolism of phthalates in humans.
Frederiksen H, Skakkebaek NE, Andersson AM
Mol Nutr Food Res 2007 Jul;51(7):899-911. doi: 10.1002/mnfr.200600243. PMID: 17604388
Testicular cancer and male infertility.
Paduch DA
Curr Opin Urol 2006 Nov;16(6):419-27. doi: 10.1097/01.mou.0000250282.37366.d2. PMID: 17053522

Prognosis

Androgens and the masculinization programming window: human-rodent differences.
Sharpe RM
Biochem Soc Trans 2020 Aug 28;48(4):1725-1735. doi: 10.1042/BST20200200. PMID: 32779695Free PMC Article
Effects of testicular dysgenesis syndrome components on testicular germ cell tumor prognosis and oncological outcomes.
Selvi I, Ozturk E, Yikilmaz TN, Sarikaya S, Basar H
Int Braz J Urol 2020 Sep-Oct;46(5):725-740. doi: 10.1590/S1677-5538.IBJU.2019.0387. PMID: 32648412Free PMC Article
Testicular microlithiasis and testicular cancer: review of the literature.
Pedersen MR, Rafaelsen SR, Møller H, Vedsted P, Osther PJ
Int Urol Nephrol 2016 Jul;48(7):1079-86. Epub 2016 Mar 23 doi: 10.1007/s11255-016-1267-2. PMID: 27007613
Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility.
Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, Ziebe S, Priskorn L, Juul A
Physiol Rev 2016 Jan;96(1):55-97. doi: 10.1152/physrev.00017.2015. PMID: 26582516Free PMC Article
What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis.
Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM
J Pediatr Surg 2010 Oct;45(10):2074-86. doi: 10.1016/j.jpedsurg.2010.07.030. PMID: 20920735

Clinical prediction guides

Androgens and the masculinization programming window: human-rodent differences.
Sharpe RM
Biochem Soc Trans 2020 Aug 28;48(4):1725-1735. doi: 10.1042/BST20200200. PMID: 32779695Free PMC Article
Testicular microlithiasis: Systematic review and Clinical guidelines.
Aoun F, Slaoui A, Naoum E, Hassan T, Albisinni S, Azzo JM, Kallas-Chemaly A, Assenmacher G, Peltier A, Roumeguère T
Prog Urol 2019 Sep;29(10):465-473. Epub 2019 Aug 2 doi: 10.1016/j.purol.2019.07.001. PMID: 31383508
Is testicular dysgenesis syndrome a genetic, endocrine, or environmental disease, or an unexplained reproductive disorder?
Xing JS, Bai ZM
Life Sci 2018 Feb 1;194:120-129. Epub 2017 Nov 26 doi: 10.1016/j.lfs.2017.11.039. PMID: 29183799
Anogenital distance as a marker of androgen exposure in humans.
Thankamony A, Pasterski V, Ong KK, Acerini CL, Hughes IA
Andrology 2016 Jul;4(4):616-25. Epub 2016 Feb 4 doi: 10.1111/andr.12156. PMID: 26846869Free PMC Article
Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility.
Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, Ziebe S, Priskorn L, Juul A
Physiol Rev 2016 Jan;96(1):55-97. doi: 10.1152/physrev.00017.2015. PMID: 26582516Free PMC Article

Recent systematic reviews

Testicular microlithiasis: Systematic review and Clinical guidelines.
Aoun F, Slaoui A, Naoum E, Hassan T, Albisinni S, Azzo JM, Kallas-Chemaly A, Assenmacher G, Peltier A, Roumeguère T
Prog Urol 2019 Sep;29(10):465-473. Epub 2019 Aug 2 doi: 10.1016/j.purol.2019.07.001. PMID: 31383508
Associations between hypospadias, cryptorchidism and anogenital distance: Systematic review and meta-analysis.
Hua XG, Hu R, Hu CY, Li FL, Jiang W, Zhang XJ
Andrologia 2018 Dec;50(10):e13152. Epub 2018 Sep 24 doi: 10.1111/and.13152. PMID: 30251425
Testicular microlithiasis and testicular cancer: review of the literature.
Pedersen MR, Rafaelsen SR, Møller H, Vedsted P, Osther PJ
Int Urol Nephrol 2016 Jul;48(7):1079-86. Epub 2016 Mar 23 doi: 10.1007/s11255-016-1267-2. PMID: 27007613

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...