Young’s syndrome is named after Dr. Donald Young, who first observed the clinical signs of this syndrome in a group of male patients showing infertility associated with recurrent respiratory problems. It is also called as Barry-Perkins-Young syndrome, named after his first two patients.
What is Young’s Syndrome?
Young’s syndrome (YS) is a well-known disease observed in the early age of young males. It is a rare medical condition, characterized by a triad of symptoms such as bronchiectasis, sinusitis and obstructive azoospermia. It shows similarity to cystic fibrosis. Young’s syndrome is an autosomal recessive inherited genetic defect.
Symptoms of Young’s Syndrome
Symptoms of Young’s syndrome include:
- Bronchiectasis or bronchitis
- Obstructive Azoospermia: In this condition, there is an obstruction to the transport of sperms down to the genital tract because of the problem in epididymis. Due to this, although sperms are formed they do not mix with semen. Sperms are usually hypomotile and show decrease in the sperm count which leads to infertility.
- Lung Infections: Lungs perform normal functions but produce mucus of very high viscosity as a result of infection.
- Clubbing of fingers and toes.
Generally, symptoms of sinusitis disappear during adolescence; while other symptoms of Young’s Syndrome persist.
Epidemiology of Young’s Syndrome
Young’s syndrome was very common in 1980. An estimated 1 in 500 males were found to be affected by young’s syndrome. It was suggested to be caused by exposure to mercury. At the present time, the use of mercury has been restricted, it has resulted in drastic reduction of young’s syndrome making it a rare disorder.
Prognosis of Young’s Syndrome
Since there is lack of specific treatment, symptoms of Young’s syndrome persist throughout the patient’s life. With some non-specific treatment for bronchitis and pulmonary infection, the symptoms do subside to give temporary relief.
Causes of Young’s Syndrome
Although there are speculations that young’s syndrome is caused due to defects in ciliary motility, it is still not clear. More studies are required to reveal the etiology of young’s syndrome.
Risk Factors of Young’s Syndrome
Several studies have shown that young’s syndrome is caused due to exposure to mercury. Earlier, Mercurous chloride was used in toothpastes and worm medications in UK.
Complications of Young’s Syndrome
When young’s syndrome is not detected and treated in time, it leads to complications in the form of severe bronchiectasis and pulmonary problems. This eventually makes the lungs weak and affects their normal functions.
Diagnosis of Young’s Syndrome
Clinical diagnosis of Young’s syndrome is as follows:
- Patients showing symptoms of both sinusitis and infertility are well examined.
- Patients with prolonged mucociliary clearance are evaluated. Saccharine placed over inferior turbinate takes double time than normal to reach nasopharynx and posterior 1/3rd of the tongue.
- Pulmonary function test to check if air passes through lungs in a smooth or obstructed way.
- Semen sample is collected to check for the sperm motility and structural abnormalities.
- Imaging methods such as X-ray and Computed tomography scans are used to look for lung infection and sinus malformations.
Treatment of Young’s Syndrome
There is no specific treatment for Young’s Syndrome. However, the condition is managed in the following method:
- Control of infections with antibiotics and bronchodilators.
- Hormonal supplementation for treatment of azoospermia.
- Microsurgical techniques are used to restore fertility in these patients; however, it has shown limited success.
Lifestyle and Coping with Young’s Syndrome
Few men who suffer from young’s syndrome lead a very difficult life. Hence, they need both medical treatment to alleviate the symptoms and an emotional support to cope up with the emotional ups and downs in everyday life.
Young’s syndrome is a rare genetic disorder and there is still no cure for it. Further research is required to understand the mechanism underlying its pathogenesis which will enable to develop effective treatment strategy.