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Absent testis

MedGen UID:
575082
Concept ID:
C0342526
Finding
Synonyms: Absence of palpable testicules; Absent testes; Aplasia of the testes
SNOMED CT: Absent testes (237804005)
 
HPO: HP:0010469

Definition

Testis not palpable in the scrotum or inguinal canal. [from HPO]

Conditions with this feature

Isolated microphthalmia 4
MedGen UID:
414346
Concept ID:
C2751307
Disease or Syndrome
Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.

Professional guidelines

PubMed

Deeg KH
Ultraschall Med 2021 Feb;42(1):10-38. Epub 2021 Feb 2 doi: 10.1055/a-1325-1834. PMID: 33530122
van Casteren NJ, Looijenga LH, Dohle GR
Int J Androl 2009 Aug;32(4):279-87. Epub 2008 Dec 22 doi: 10.1111/j.1365-2605.2008.00937.x. PMID: 19207616
Liang R
Clin Lymphoma 2000 Jun;1(1):33-7; discussion 38. doi: 10.3816/clm.2000.n.002. PMID: 11707809

Recent clinical studies

Etiology

Boehm K, Fischer ND, Qwaider M, Haferkamp A, Schröder A
J Pediatr Urol 2023 Apr;19(2):214.e1-214.e6. Epub 2022 Nov 13 doi: 10.1016/j.jpurol.2022.11.006. PMID: 36460587
Wei Y, Yu C, Zhou Y, Zhao TX, Lin T, He D, Wu SD, Wei GH
Arch Pediatr 2020 Nov;27(8):456-463. Epub 2020 Oct 1 doi: 10.1016/j.arcped.2020.08.006. PMID: 33011030
Kraft KH, Bhargava N, Schast AW, Canning DA, Kolon TF
J Urol 2012 Feb;187(2):676-80. Epub 2011 Dec 16 doi: 10.1016/j.juro.2011.10.021. PMID: 22177918
Shibata Y, Kojima Y, Mizuno K, Nakane A, Kato T, Kamisawa H, Kohri K, Hayashi Y
Urology 2010 Jul;76(1):78-81. Epub 2010 May 15 doi: 10.1016/j.urology.2010.02.043. PMID: 20472272
Lee PA, Coughlin MT
J Urol 2002 Oct;168(4 Pt 2):1680-2; discussion 1682-3. doi: 10.1097/01.ju.0000028222.74363.ad. PMID: 12352333

Diagnosis

Yu MM, Xie H, Huang YC, Lv YQ, Chen F, Li XX
Asian J Androl 2023 Nov 1;25(6):695-698. Epub 2023 Jul 21 doi: 10.4103/aja202326. PMID: 37488835Free PMC Article
Igarashi A, Kikuchi K, Ogushi K, Hasegawa M, Hatanaka M, Fujino J, Kishi Y, Ikeda H
J Pediatr Surg 2018 Sep;53(9):1766-1769. Epub 2017 Oct 16 doi: 10.1016/j.jpedsurg.2017.10.046. PMID: 29132799
Zu'bi F, Ming J, Farhat W
Urology 2017 Mar;101:123-125. Epub 2016 Sep 7 doi: 10.1016/j.urology.2016.08.039. PMID: 27614118
Pradhan A, Panta OB, Karki DB, Gurung G
JNMA J Nepal Med Assoc 2014 Jul-Sep;52(195):943-5. PMID: 26982671
Turek PJ, Ewalt DH, Snyder HM 3rd, Stampfers D, Blyth B, Huff DS, Duckett JW
J Urol 1994 Mar;151(3):718-20; discussion 720-1. doi: 10.1016/s0022-5347(17)35069-3. PMID: 7905931

Therapy

Kraft KH, Bhargava N, Schast AW, Canning DA, Kolon TF
J Urol 2012 Feb;187(2):676-80. Epub 2011 Dec 16 doi: 10.1016/j.juro.2011.10.021. PMID: 22177918

Prognosis

Boehm K, Fischer ND, Qwaider M, Haferkamp A, Schröder A
J Pediatr Urol 2023 Apr;19(2):214.e1-214.e6. Epub 2022 Nov 13 doi: 10.1016/j.jpurol.2022.11.006. PMID: 36460587
Wei Y, Yu C, Zhou Y, Zhao TX, Lin T, He D, Wu SD, Wei GH
Arch Pediatr 2020 Nov;27(8):456-463. Epub 2020 Oct 1 doi: 10.1016/j.arcped.2020.08.006. PMID: 33011030
Shibata Y, Kojima Y, Mizuno K, Nakane A, Kato T, Kamisawa H, Kohri K, Hayashi Y
Urology 2010 Jul;76(1):78-81. Epub 2010 May 15 doi: 10.1016/j.urology.2010.02.043. PMID: 20472272
Lee PA, Coughlin MT
J Urol 2002 Oct;168(4 Pt 2):1680-2; discussion 1682-3. doi: 10.1097/01.ju.0000028222.74363.ad. PMID: 12352333
Merry C, Sweeney B, Puri P
Eur Urol 1997;31(1):65-7. doi: 10.1159/000474420. PMID: 9032537

Clinical prediction guides

Boehm K, Fischer ND, Qwaider M, Haferkamp A, Schröder A
J Pediatr Urol 2023 Apr;19(2):214.e1-214.e6. Epub 2022 Nov 13 doi: 10.1016/j.jpurol.2022.11.006. PMID: 36460587
Al Qurashi M, Mustafa A, Aga SS, Ahmad A, El-Farra A, Shawli A, Al Hindi M, Hasosah M
BMC Med Genomics 2022 Mar 19;15(1):63. doi: 10.1186/s12920-022-01210-2. PMID: 35305621Free PMC Article
Wei Y, Yu C, Zhou Y, Zhao TX, Lin T, He D, Wu SD, Wei GH
Arch Pediatr 2020 Nov;27(8):456-463. Epub 2020 Oct 1 doi: 10.1016/j.arcped.2020.08.006. PMID: 33011030
Yardley IE, Bostock E, Jones MO, Turnock RR, Corbett HJ, Losty PD
J Pediatr Surg 2012 Jun;47(6):1118-22. doi: 10.1016/j.jpedsurg.2012.03.011. PMID: 22703780
Shibata Y, Kojima Y, Mizuno K, Nakane A, Kato T, Kamisawa H, Kohri K, Hayashi Y
Urology 2010 Jul;76(1):78-81. Epub 2010 May 15 doi: 10.1016/j.urology.2010.02.043. PMID: 20472272

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