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Epididymal cyst

MedGen UID:
1778106
Concept ID:
C5442141
Anatomical Abnormality
Synonyms: Cyst, Epididymal; Cysts, Epididymal; Epididymal Cyst; Epididymal Cysts
SNOMED CT: Cyst of epididymis (43077002); Epididymal cyst (43077002)
 
HPO: HP:0030424

Definition

A smooth, extratesticular, spherical cyst in the head of the epididymis. [from HPO]

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).

Professional guidelines

PubMed

Zhao L, Yu Z, Zhang Z
J Vis Exp 2023 Mar 31;(193) doi: 10.3791/64083. PMID: 37067264
Hou Y, Zhang Y, Li G, Wang W, Li H
Urology 2018 Dec;122:97-103. Epub 2018 Aug 22 doi: 10.1016/j.urology.2018.08.007. PMID: 30142407
Yang B, Zhang J, Qi Y, Wang P, Jiang R, Li H
Am J Mens Health 2017 May;11(3):767-774. Epub 2017 Feb 1 doi: 10.1177/1557988317695901. PMID: 28413943Free PMC Article

Recent clinical studies

Etiology

Trenti E, Palermo SM, D'Elia C, Comploj E, Pycha A, Carella R, Pycha A
Arch Ital Urol Androl 2018 Sep 30;90(3):212-214. doi: 10.4081/aiua.2018.3.212. PMID: 30362690
Hou Y, Zhang Y, Li G, Wang W, Li H
Urology 2018 Dec;122:97-103. Epub 2018 Aug 22 doi: 10.1016/j.urology.2018.08.007. PMID: 30142407
Yang JR, Wei YB, Yan B, Yin Z, Gao YL, Wang Z, Zhou KQ
Urology 2015 Jun;85(6):1510-4. Epub 2015 Apr 11 doi: 10.1016/j.urology.2015.03.003. PMID: 25868737
Artas H, Orhan I
J Ultrasound Med 2007 Dec;26(12):1775-9. doi: 10.7863/jum.2007.26.12.1775. PMID: 18029930
Sigurdsson T, Johansson JE, Jahnson S, Helgesen F, Andersson SO
J Urol 1994 Apr;151(4):898-901. doi: 10.1016/s0022-5347(17)35117-0. PMID: 8126821

Diagnosis

Zhao L, Yu Z, Zhang Z
J Vis Exp 2023 Mar 31;(193) doi: 10.3791/64083. PMID: 37067264
Boscarelli A, Bellini T
Eur J Pediatr 2021 Sep;180(9):2723-2729. Epub 2021 Apr 14 doi: 10.1007/s00431-021-04080-5. PMID: 33851241
Sarmah PB, Sarmah BD, Ibrahim H, Panting J
Clin Teach 2017 Dec;14(6):432-436. Epub 2017 Feb 2 doi: 10.1111/tct.12606. PMID: 28150382
Artas H, Orhan I
J Ultrasound Med 2007 Dec;26(12):1775-9. doi: 10.7863/jum.2007.26.12.1775. PMID: 18029930
Behre HM, Kliesch S, Schädel F, Nieschlag E
Int J Androl 1995 Dec;18 Suppl 2:27-31. PMID: 8719855

Therapy

Hou Y, Zhang Y, Li G, Wang W, Li H
Urology 2018 Dec;122:97-103. Epub 2018 Aug 22 doi: 10.1016/j.urology.2018.08.007. PMID: 30142407
Hicks N, Gupta S
Scand J Urol 2016 Dec;50(6):468-471. Epub 2016 Jul 15 doi: 10.1080/21681805.2016.1204622. PMID: 27421073
Yang JR, Wei YB, Yan B, Yin Z, Gao YL, Wang Z, Zhou KQ
Urology 2015 Jun;85(6):1510-4. Epub 2015 Apr 11 doi: 10.1016/j.urology.2015.03.003. PMID: 25868737
Daehlin L, Tønder B, Kapstad L
Br J Urol 1997 Sep;80(3):468-71. doi: 10.1046/j.1464-410x.1997.00358.x. PMID: 9313670
Sigurdsson T, Johansson JE, Jahnson S, Helgesen F, Andersson SO
J Urol 1994 Apr;151(4):898-901. doi: 10.1016/s0022-5347(17)35117-0. PMID: 8126821

Prognosis

Zhao L, Yu Z, Zhang Z
J Vis Exp 2023 Mar 31;(193) doi: 10.3791/64083. PMID: 37067264
Trenti E, Palermo SM, D'Elia C, Comploj E, Pycha A, Carella R, Pycha A
Arch Ital Urol Androl 2018 Sep 30;90(3):212-214. doi: 10.4081/aiua.2018.3.212. PMID: 30362690
Hou Y, Zhang Y, Li G, Wang W, Li H
Urology 2018 Dec;122:97-103. Epub 2018 Aug 22 doi: 10.1016/j.urology.2018.08.007. PMID: 30142407
Artas H, Orhan I
J Ultrasound Med 2007 Dec;26(12):1775-9. doi: 10.7863/jum.2007.26.12.1775. PMID: 18029930
Sigurdsson T, Johansson JE, Jahnson S, Helgesen F, Andersson SO
J Urol 1994 Apr;151(4):898-901. doi: 10.1016/s0022-5347(17)35117-0. PMID: 8126821

Clinical prediction guides

Welliver C, Cardona-Grau D, Elebyjian L, Feustel PJ, Kogan BA
J Pediatr Urol 2019 Aug;15(4):386.e1-386.e6. Epub 2019 Apr 19 doi: 10.1016/j.jpurol.2019.04.016. PMID: 31104998
Hou Y, Zhang Y, Li G, Wang W, Li H
Urology 2018 Dec;122:97-103. Epub 2018 Aug 22 doi: 10.1016/j.urology.2018.08.007. PMID: 30142407
Hicks N, Gupta S
Scand J Urol 2016 Dec;50(6):468-471. Epub 2016 Jul 15 doi: 10.1080/21681805.2016.1204622. PMID: 27421073
Yang JR, Wei YB, Yan B, Yin Z, Gao YL, Wang Z, Zhou KQ
Urology 2015 Jun;85(6):1510-4. Epub 2015 Apr 11 doi: 10.1016/j.urology.2015.03.003. PMID: 25868737
Sigurdsson T, Johansson JE, Jahnson S, Helgesen F, Andersson SO
J Urol 1994 Apr;151(4):898-901. doi: 10.1016/s0022-5347(17)35117-0. PMID: 8126821

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