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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.
See: Condition Record
Isolated microphthalmia 4

Professional guidelines

PubMed

Challenges in Diagnosis and Treatment of Male Hypogonadism.
Purnamasari D
Acta Med Indones 2024 Jan;56(1):1-2. PMID: 38561883
Differential Diagnosis of Acute Scrotum in Childhood and Adolescence with High-Resolution Duplex Sonography.
Deeg KH
Ultraschall Med 2021 Feb;42(1):10-38. Epub 2021 Feb 2 doi: 10.1055/a-1325-1834. PMID: 33530122
Testicular microlithiasis and carcinoma in situ overview and proposed clinical guideline.
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

Recent clinical studies

Etiology

Contralateral testicular hypertrophy is associated with a higher incidence of absent testis in children with non-palpable testis.
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
Testicular hypertrophy as predictor of contralateral nonpalpable testis among Chinese boys: An 18-year retrospective study.
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
Histological examination of solitary contralateral descended testis in congenital absence of testis.
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
Optimal cutoff value of contralateral testicular size for prediction of absent testis in Japanese boys with nonpalpable testis.
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
The single testis: paternity after presentation as unilateral cryptorchidism.
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

Ipsilateral and contralateral patent processus vaginalis in pediatric patients with a unilateral nonpalpable testis.
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
Surgical exploration for impalpable testis: Which should be first, inguinal exploration or laparoscopic abdominal exploration?
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
Novel Surgical Approach to Giant Abdominoscrotal Hydrocele-Video.
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
Crossed Testicular Ectopia.
Pradhan A, Panta OB, Karki DB, Gurung G
JNMA J Nepal Med Assoc 2014 Jul-Sep;52(195):943-5. PMID: 26982671
The absent cryptorchid testis: surgical findings and their implications for diagnosis and etiology.
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

Histological examination of solitary contralateral descended testis in congenital absence of testis.
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

Contralateral testicular hypertrophy is associated with a higher incidence of absent testis in children with non-palpable testis.
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
Testicular hypertrophy as predictor of contralateral nonpalpable testis among Chinese boys: An 18-year retrospective study.
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
Optimal cutoff value of contralateral testicular size for prediction of absent testis in Japanese boys with nonpalpable testis.
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
The single testis: paternity after presentation as unilateral cryptorchidism.
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
The vanishing testis: anatomical and histological findings.
Merry C, Sweeney B, Puri P
Eur Urol 1997;31(1):65-7. doi: 10.1159/000474420. PMID: 9032537

Clinical prediction guides

Contralateral testicular hypertrophy is associated with a higher incidence of absent testis in children with non-palpable testis.
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
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
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
Testicular hypertrophy as predictor of contralateral nonpalpable testis among Chinese boys: An 18-year retrospective study.
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
Congenital abdominal wall defects and testicular maldescent--a 10-year single-center experience.
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
Optimal cutoff value of contralateral testicular size for prediction of absent testis in Japanese boys with nonpalpable testis.
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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