Obstructive azoospermia secondary to bilateral epididymal cystadenomas in a patient with von Hippel-Lindau

Gomella, Patrick T.; Shin, Paul; Srinivasan, Ramaprasad; Linehan, W. Marston; Ball, Mark W.

doi:10.1016/j.eucr.2019.100922

Cited by 6 publications

(4 citation statements)

References 5 publications

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“…Because men affected by VHL can experience reduced fertility due to epididymal cysts, a fertility specialist may be consulted 32 . Although limited data on the effects of pregnancy on female patients with VHL do not indicate significant risk, careful observation is warranted.…”

Section: Resultsmentioning

confidence: 99%

“…Because men affected by VHL can experience reduced fertility due to epididymal cysts, a fertility specialist may be consulted. 32 Although limited data on the effects of pregnancy on female patients with VHL do not indicate significant risk, careful observation is warranted. All scenarios should be discussed, and patients should be supported in their decision with consideration of their cultural/religious backgrounds.…”

Section: Family Planningmentioning

confidence: 99%

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Multidisciplinary integrated care pathway for von Hippel–Lindau disease

Wolters

Dreijerink

Giles

et al. 2022

Cancer

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BACKGROUND: Clinical pathways are care plans established to describe essential steps in the care of patients with a specific clinical problem. They translate (inter)national guidelines into local applicable protocols and clinical practice. The purpose of this article is to establish a multidisciplinary integrated care pathway for specialists and allied health care professionals in caring for individuals with von Hippel-Lindau (VHL) disease. METHODS: Using a modified Delphi consensus-making process, a multidisciplinary panel from 5 Dutch University Medical Centers produced an integrated care pathway relating to the provision of care for patients with VHL by medical specialists, specialized nurses, and associated health care professionals. Patient representatives cocreated the pathway and contributed quality criteria from the patients' perspective. RESULTS: The panel agreed on recommendations for the optimal quality of care for individuals with a VHL gene mutation. These items were the starting point for the development of a patient care pathway. With international medical guidelines addressing the different VHL-related disorders, this article presents a patient care pathway as a flowchart that can be incorporated into VHL expertise clinics or nonacademic treatment clinics. CONCLUSIONS: Medical specialists (internists, urologists, neurosurgeons, ophthalmologists, geneticists, medical oncologists, neurologists, gastroenterologists, pediatricians, and ear-nose-throat specialists) together with specialized nurses play a vital role alongside health care professionals in providing care to people affected by VHL and their families. This article presents a set of consensus recommendations, supported by organ-specific guidelines, for the roles of these practitioners in order to provide optimal VHL care. This care pathway can form the basis for the development of comprehensive, integrated pathways for multiple neoplasia syndromes.

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Section: Resultsmentioning

confidence: 99%

Section: Family Planningmentioning

confidence: 99%

Multidisciplinary integrated care pathway for von Hippel–Lindau disease

Wolters

Dreijerink

Giles

et al. 2022

Cancer

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“…Regarding the infertility problem in this specific setting, standard approaches to obstructive azoospermia, which include sperm retrieval via percutaneous or open biopsy of the testes, are the preferred management strategies (15). Symptomatic PCE, instead, when feasible, is usually treated with testicle-sparing surgical…”

Section: Discussionmentioning

confidence: 99%

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

Scafa,

Merico,

Ferrara

et al. 2023

Front. Oncol.

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We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the VHL gene was tested, and a known pathogenetic variant (c.464-1G>A; p.)? was found. Screening for other Von Hippel-Lindau disease-associated neoplasms revealed bilateral retinal capillary hemangioblastomas, clear cell renal cell carcinoma, and multiple pancreatic cysts. In this case, an accurate diagnostic workup for male infertility allowed the detection of a rare life-threatening syndrome, already presenting with several silent neoplasms. For this reason, this case report may be useful for reproductive medicine specialists in the management of male infertility.

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“…Regarding renal lesions in VHL, kidney may develop thousands of microscopic or large lesions that are solid or cystic with each lesion having malignant potential. The average age for an initial lesion is the 4th decade of life, but many showing lesions much earlier [ 21 , 22 , 23 , 23 ]. However, one study described a cohort where the median age of onset for an initial lesion was age 28, with a median life expectancy of 66.…”

Section: Von Hippel–lindau Syndrome (Vhl)mentioning

confidence: 99%

Tumorigenesis Mechanisms Found in Hereditary Renal Cell Carcinoma: A Review

Webster

Gopal

Ball

2022

Genes

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Renal cell carcinoma is a heterogenous cancer composed of an increasing number of unique subtypes each with their own cellular and tumor behavior. The study of hereditary renal cell carcinoma, which composes just 5% of all types of tumor cases, has allowed for the elucidation of subtype-specific tumorigenesis mechanisms that can also be applied to their sporadic counterparts. This review will focus on the major forms of hereditary renal cell carcinoma and the genetic alterations contributing to their tumorigenesis, including von Hippel Lindau syndrome, Hereditary Papillary Renal Cell Carcinoma, Succinate Dehydrogenase-Deficient Renal Cell Carcinoma, Hereditary Leiomyomatosis and Renal Cell Carcinoma, BRCA Associated Protein 1 Tumor Predisposition Syndrome, Tuberous Sclerosis, Birt–Hogg–Dubé Syndrome and Translocation RCC. The mechanisms for tumorigenesis described in this review are beginning to be exploited via the utilization of novel targets to treat renal cell carcinoma in a subtype-specific fashion.

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Obstructive azoospermia secondary to bilateral epididymal cystadenomas in a patient with von Hippel-Lindau

Cited by 6 publications

References 5 publications

Multidisciplinary integrated care pathway for von Hippel–Lindau disease

Multidisciplinary integrated care pathway for von Hippel–Lindau disease

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

Tumorigenesis Mechanisms Found in Hereditary Renal Cell Carcinoma: A Review

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