Young Syndrome

Alternative Names

  • Azoospermia, Obstructive, and Chronic Sinopulmonary Infections
  • Sinusitis-Infertility Syndrome
  • Barry-Perkins-Young Syndrome
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Diseases of male genital organs

OMIM Number

279000

Mode of Inheritance

Autosomal recessive

Description

Young Syndrome is a rare condition characterized by the association of obstructive azoospermia and recurrent sino-bronchial infections. The signs and symptoms of this condition are very similar to Cystic Fibrosis. In men, the condition is usually diagnosed when assessing for infertility. The azoospermia results from obstruction of the epididymides by inspissated secretions. These secretions are also responsible for bronchiectasis and rhinosinusitis. Respiratory function is usually normal.

As expected, the prime differential diagnosis involves cystic fibrosis. Young syndrome can be differentiated from Cystic Fibrosis based on normal sweat gland and pancreatic function in the former. Another condition with similar features to consider is Congenital Bilateral Absence of the Vas deferens (CBAVD) and Immotile Cilia Syndrome. Thus, a proper diagnosis is made on the basis of occurrence of chronic sinopulmonary infections, persistent azoospermia, normal spermatogenesis, and characteristic epididymal findings, as well as exclusion of the other syndromes.

The condition can be managed effectively by prompt treatment of sinus and pulmonary infections. Infertility due to Young Syndrome can be resolved using techniques such as vasoepididymostomy and intracytoplasmic sperm injection.

Molecular Genetics

There has been some evidence to show that hereditary forms of Young Syndrome may be inherited in an autosomal recessive manner. However, the exact genetic locus involved is unclear. No mutations in the CFTR gene have detected in patients with Young Syndrome.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Khan et al. (1987) described two cases from Saudi Arabia, one in a Yemeni man and the other in a Somalian man. Both presented in their early twenties with a history of chronic sinopulmonary infections and both were married but had primary infertility with normal libido, potency, puberty, and shaving frequency. They had normal-sized gonads with distended epididymal heads.

Somalia

[See: Saudi Arabia > Khan et al., 1987].

Yemen

[See: Saudi Arabia > Khan et al., 1987].

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