Young Syndrome


Article Author:
Sohaib Mohammed


Article Editor:
Arif Jan


Editors In Chief:
Linda Lindsay


Managing Editors:
Avais Raja
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Khalid Alsayouri
Trevor Nezwek
Radia Jamil
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beata Beatty
Beenish Sohail
Nazia Sadiq
Hajira Basit
Phillip Hynes


Updated:
3/10/2019 12:41:59 PM

Introduction

Young syndrome, also named sinusitis-infertility syndrome, is named after urologist Dr. Donald Young who first observed this condition. It is a rare inherited syndrome similar to Kartagener syndrome and often presents in middle-aged men with chronic rhinosinusitis, reduced fertility due to azoospermia, and bronchiectasis. Its prevalence is comparable to Klinefelter syndrome and is one of the causes of both chronic sinopulmonary infections and azoospermia. Spermatogenesis is normal, and the reduced fertility is due to obstruction of sperm transport down the genital tract.[1]  Individuals born with this disorder have normally functioning lungs but tend to produce thick, viscous mucus which also traps sperms in epididymis affecting their movement. The azoospermia is due to functional obstruction of sperm transportation down the epididymis.[2]

Etiology

The exact cause of Young syndrome is not known, but in addition to a genetic cause, some researchers speculate that it could be due to mercury exposure.[3]

Epidemiology

Young syndrome is a rare inherited syndrome. It has associations with mercury exposure. Since the restrictions on mercury use, the incidence of Young syndrome has also declined.

Pathophysiology

Pathophysiology is not well known. While it resembles Kartagener syndrome, it is still not clear if ciliary dysfunction is the primary abnormality.

History and Physical

As always, a complete and thorough history and physical exam are necessary. Clinical features involving different organ systems are[4][5][6][7][8][9]:

  • Pulmonary: Newborns may suffer from respiratory distress, but the primary manifestations of bronchiectasis present in later life
  • Rhinosinusitis: Nasal polyps and chronic sinusitis, which may also present with chronic cough
  • Chronic otitis media with recurrent acute otitis media is present in childhood and adolescence
  • Fertility: Men often have living but immotile spermatozoa, which results in infertility, although some have motile spermatozoa and immotile cilia, while others are azoospermic - women may also have decreased fertility, with fewer than 50 percent successful pregnancy completions

Evaluation

Evaluation again is based on the presenting complaint and a high index of suspicion. The chest X-ray may show hyperinflated lungs with peribronchial thickening, and bronchiectasis in the lower bases. However, a CT scan is more sensitive than a chest x-ray to assess the lung and may reveal alveolar damage and cystic bronchiectasis, which are more significant in the lower lung fields. Plain x-rays of maxillary and frontal sinuses may show central opacification.

Pulmonary function tests will reveal mild airflow obstruction in the smaller airways. In a patient with compatible clinical features, confirmation of the diagnosis is possible with genetic testing that shows homozygosity or compound heterozygosity.

Young syndrome requires differentiation from cystic fibrosis (CF) which can present with similar features. While Young syndrome more often presents in males, CF presents equally in either sex. In Young syndrome, chronic sinusitis is the predominant pulmonary abnormality while in CF there is progressive bronchiectasis due to recurrent lung Infections and colonization, especially with Pseudomonas. Spermatogenesis is affected in CF patients with abnormal sperm histology.

The diagnostic basis is on the occurrence of recurrent sinopulmonary infections, persistent azoospermia but normal spermatogenesis, and the exclusion of cystic fibrosis and immotile-cilia syndrome.

Treatment / Management

There is no cure for Young syndrome, and the treatment is to control bacterial infection with antibiotics.  Inhaled albuterol and hypertonic saline may be used to help open the blocked airway and loosen mucus in it. 

The precise management of the sequelae of the disease is not known, so recommendations are based on experience in treating patients with cystic fibrosis and other similar conditions. The treatment must be individualized depending upon the clinical course of a given patient.[10][11]

Bronchiectasis — Clearing the secretions and reducing the microbial load with the help of antibiotics are the mainstay of preventive therapy.  Daily chest physiotherapy is important in compensating for the diminished or absent mucociliary clearance; additionally, other airway clearance techniques available merit consideration. Antitussive and mucolytic agents are useful for cough and sputum.[11][12][13] Vaccination against influenza and pneumococcus is advisable.

Surgical intervention to remove an area of bronchiectasis is very rarely recommended due to the risks of the procedure and possibility of development of bronchiectasis in other lung areas.[14]

Chronic rhinosinusitis and nasal polyposis: Medical management of these conditions is by antibiotic therapy, nasal saline lavage, and intranasal glucocorticoids for nasal polyposis.

Surgical interventions for chronic sinusitis and nasal polyposis may be recommended in a subset of patients not responding to medical management.

Otitis media with effusion (OME): Chronic OME is common in children and adolescents which can lead to hearing loss.[11][15] Tympanostomy tubes improve the hearing loss, at least temporarily.[16] Conductive hearing loss and associated speech delays should undergo assessment in childhood, and hearing aids prescribed if necessary.[15]

Impaired fertility: Semen analysis should be offered to the patient. In-vitro fertilization techniques, principally intracytoplasmic sperm injection, have been shown effective in this setting.

Female patients in child-bearing age should be informed about the possibility of reduced fertility and rarely increased the risk of ectopic pregnancy.[17]

Chest radiographs(CXR) help evaluate changes in respiratory symptoms but are relatively insensitive measures of bronchiectasis.

High-resolution computed tomography (HRCT) is more sensitive than conventional CXR for detecting early airway and lung parenchymal changes. It is typically performed in advanced and worsening disease not responding to initial management.[18]

Differential Diagnosis

  • Cystic fibrosis
  • Bronchiectasis
  • Kartagener syndrome
  • COPD

Prognosis

Patients with Young syndrome generally live an active life with a normal lifespan. The rate of lung function decline is slower than with cystic fibrosis. However, repeated infections like sinusitis may prove frustrating and negatively influence the quality of life. The lung function variation is not related to the age at the time of diagnosis.[19][20]

Complications

  • Chronic and/or recurrent respiratory, sinus, and ear infections
  • Infertility

Deterrence and Patient Education

Smoking cessation is of paramount importance to prevent lung parenchymal damage, and the patient should receive rigorous counseling to stop this habit if present.

Pearls and Other Issues

In the last several years, microsurgical techniques have been developed to restore fertility in patients with Young syndrome. The blockage in the epididymis is removed and followed by an anastomosis. Unfortunately, even with meticulous surgery, the thick, viscous secretions slow down sperm movement.

Enhancing Healthcare Team Outcomes

Young syndrome is a rare disorder with a classic presentation. A multidisciplinary team that includes a pulmonologist, urologist, internist, gynecologist, infectious disease expert, geneticist, and nurse practitioner, is ideal for the management of these patients. Because of recurrent infections, these patients need long term follow-up. 

It is important to diagnose the disorder promptly to prevent complications and close follow up of the patient is essential. It is also highly advised to provide genetic counseling to other family members.


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Young Syndrome - Questions

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Young syndrome is most often diagnosed in which of the following groups of people?



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A 68-year-old male presents with a long history of a chronic wet cough, mild shortness of breath, and infertility. He had been told that he had normal sperm but for some unknown reason, he could not have any children. He has been treated with bronchodilators and antibiotics for his lung problems. Over the years he has developed decreased exercise endurance and often develops chest discomfort. The physical exam is not productive but there is clubbing. In order to differentiate the diagnosis from cystic fibrosis, what study should be ordered?



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Young syndrome is associated with which urological disorder?



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A 28-year-old male with a past medical history of recurrent sinus infections came to the fertility clinic and complained that he is unable to conceive. He also reports recurrent pulmonary infections. He denies any other medical conditions. On investigation, he had bronchiectasis. The other labs were normal except for no semen in the seminal fluid. Sweat chloride test was negative. What is the most likely diagnosis of the patient?



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A 29-year-old male with a past medical history of recurrent sinopulmonary infections and type 1 DM, presents with a complaint of abnormal fertility. Based on his history and labs Young's syndrome was diagnosed. Which is the most important to rule out before the diagnosis is established?



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A young couple presents to the infertility clinic for the treatment of infertility. The male partner is 24-years old with a past medical history of recurrent sinopulmonary infections. He denies any other medical conditions. On investigation he had bronchiectasis, and other labs were normal except for no semen in the seminal fluid. Sweat chloride test was negative. What is the best way to manage infertility in this couple?



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A 25-year-old male with a past medical history of recurrent sino-pulmonary infections came to the fertility clinic and complained of infertility. On investigation he had bronchiectasis, and other labs were normal except for no semen in the seminal fluid. Sweat chloride test was negative. Besides treating his fertility, what are the other important things to manage in these patients?



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Young Syndrome - References

References

Handelsman DJ,Conway AJ,Boylan LM,Turtle JR, Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. The New England journal of medicine. 1984 Jan 5;     [PubMed]
Hamada AJ,Esteves SC,Agarwal A, A comprehensive review of genetics and genetic testing in azoospermia. Clinics (Sao Paulo, Brazil). 2013;     [PubMed]
Knowles MR,Daniels LA,Davis SD,Zariwala MA,Leigh MW, Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. American journal of respiratory and critical care medicine. 2013 Oct 15;     [PubMed]
Leigh MW,Pittman JE,Carson JL,Ferkol TW,Dell SD,Davis SD,Knowles MR,Zariwala MA, Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genetics in medicine : official journal of the American College of Medical Genetics. 2009 Jul;     [PubMed]
Pifferi M,Bush A,Caramella D,Di Cicco M,Zangani M,Chinellato I,Macchia P,Boner AL, Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia. The European respiratory journal. 2011 Mar;     [PubMed]
Greenstone MA,Jones RW,Dewar A,Neville BG,Cole PJ, Hydrocephalus and primary ciliary dyskinesia. Archives of disease in childhood. 1984 May;     [PubMed]
Jonsson MS,McCormick JR,Gillies CG,Gondos B, Kartagener's syndrome with motile spermatozoa. The New England journal of medicine. 1982 Oct 28;     [PubMed]
Munro NC,Currie DC,Lindsay KS,Ryder TA,Rutman A,Dewar A,Greenstone MA,Hendry WF,Cole PJ, Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax. 1994 Jul;     [PubMed]
Greenstone M,Rutman A,Dewar A,Mackay I,Cole PJ, Primary ciliary dyskinesia: cytological and clinical features. The Quarterly journal of medicine. 1988 May;     [PubMed]
Barbato A,Frischer T,Kuehni CE,Snijders D,Azevedo I,Baktai G,Bartoloni L,Eber E,Escribano A,Haarman E,Hesselmar B,Hogg C,Jorissen M,Lucas J,Nielsen KG,O'Callaghan C,Omran H,Pohunek P,Strippoli MP,Bush A, Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. The European respiratory journal. 2009 Dec;     [PubMed]
ten Berge M,Brinkhorst G,Kroon AA,de Jongste JC, DNase treatment in primary ciliary dyskinesia--assessment by nocturnal pulse oximetry. Pediatric pulmonology. 1999 Jan;     [PubMed]
Stafanger G,Garne S,Howitz P,Morkassel E,Koch C, The clinical effect and the effect on the ciliary motility of oral N-acetylcysteine in patients with cystic fibrosis and primary ciliary dyskinesia. The European respiratory journal. 1988 Feb;     [PubMed]
Smit HJ,Schreurs AJ,Van den Bosch JM,Westermann CJ, Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia? Chest. 1996 Jun;     [PubMed]
Prulière-Escabasse V,Coste A,Chauvin P,Fauroux B,Tamalet A,Garabedian EN,Escudier E,Roger G, Otologic features in children with primary ciliary dyskinesia. Archives of otolaryngology--head     [PubMed]
Campbell R, Managing upper respiratory tract complications of primary ciliary dyskinesia in children. Current opinion in allergy and clinical immunology. 2012 Feb;     [PubMed]
von Zumbusch A,Fiedler K,Mayerhofer A,Jessberger B,Ring J,Vogt HJ, Birth of healthy children after intracytoplasmic sperm injection in two couples with male Kartagener's syndrome. Fertility and sterility. 1998 Oct;     [PubMed]
Kennedy MP,Noone PG,Leigh MW,Zariwala MA,Minnix SL,Knowles MR,Molina PL, High-resolution CT of patients with primary ciliary dyskinesia. AJR. American journal of roentgenology. 2007 May;     [PubMed]
Davis SD,Rosenfeld M,Lee HS,Ferkol TW,Sagel SD,Dell SD,Milla C,Pittman JE,Shapiro AJ,Sullivan KM,Nykamp KR,Krischer JP,Zariwala MA,Knowles MR,Leigh MW, Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. American journal of respiratory and critical care medicine. 2019 Jan 15;     [PubMed]
Marthin JK,Petersen N,Skovgaard LT,Nielsen KG, Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. American journal of respiratory and critical care medicine. 2010 Jun 1;     [PubMed]
Hendry WF,A'Hern RP,Cole PJ, Was Young's syndrome caused by exposure to mercury in childhood? BMJ (Clinical research ed.). 1993 Dec 18-25     [PubMed]

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