Does Young's syndrome exist?

Abstract

The prevalence of Young's syndrome is reported to be declining, and the level of evidence regarding sinus disease within this syndrome is limited to case series only. There is, in fact, little evidence to support Young's syndrome being a significant aetiological factor for sinus disease, nor indeed to support the existence of Young's syndrome as an entity in its own right. The only documented aetiological factor is mercury exposure in childhood, an event that is seldom currently encountered; this would support our theory of the extinction of the condition. As an incidental finding, we found that the term Young's syndrome refers to two different medical conditions.

Obstructive azoospermia: reconstructive techniques and results

“…Initially described in 1950 by Dr. David Young, the relative rarity of this condition in the modern era has caused some to call the existence of this syndrome into question (17). Mercury exposure is one proposed etiology for Young's syndrome, and in an elegant argument supporting this theory, Hendry et al demonstrated the decreasing incidence of Young's syndrome in men born after mercury-containing teething powder and worm medications were banned in the United Kingdom (18).…”

A comprehensive review of genetics and genetic testing in azoospermia

“…The estimated prevalence is unknown, with newly discovered cases being described as case reports. Unfortunately, the origin of this disease is also unknown, although childhood exposure to mercury and genetic etiologies have been suggested (48,49). Its familial incidence in one case and its association with medullary sponge kidney in another suggest its inheritability (50,51); however, mutations have not been identified.…”

“…Its familial incidence in one case and its association with medullary sponge kidney in another suggest its inheritability (50,51); however, mutations have not been identified. Male infertility is attributed to bilateral epididymal head dilatation and blockage by an expressible amorphous mass that is attributed to poor epididymal mucociliary clearance (49). The diagnosis of Young syndrome is made by the exclusion of the two other similar syndromes, namely, CF (screened for by testing for CFTR mutations) and immotile cilia syndrome, which is confirmed by prolonged nasal mucociliary clearance of the tested material (saccharine) (49,52).…”

“…Male infertility is attributed to bilateral epididymal head dilatation and blockage by an expressible amorphous mass that is attributed to poor epididymal mucociliary clearance (49). The diagnosis of Young syndrome is made by the exclusion of the two other similar syndromes, namely, CF (screened for by testing for CFTR mutations) and immotile cilia syndrome, which is confirmed by prolonged nasal mucociliary clearance of the tested material (saccharine) (49,52). Functional rather than subtle ultrastructural epididymal and nasal ciliary defects are considered to be the basic mechanism of the disease, and epididymal aspirations revealed motile spermatozoa (52).…”

Genetic Causes of Bronchiectasis

“…77 The decline in incidence has been noted since the elimination of mercury from teething powders in the United Kingdom and Australia, leading some to postulate a link to toxic mercury exposure. 85,86 In addition to elimination of a possible toxic environmental influence, the decline in the prevalence of Young syndrome may also be a result of further advances and improvements in the diagnosis of CF and PCD.…”