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Young syndrome

MedGen UID:
137934
•Concept ID:
C0340037
•
Disease or Syndrome
Synonyms: Azoospermia obstructive and chronic sinopulmonary infections; Barry Perkins Young syndrome; Sinusitis-infertility syndrome; Young's syndrome
SNOMED CT: Young syndrome (233666007); Young's syndrome (233666007); Azoospermia, obstructive and chronic sinopulmonary infections (233666007); Sinusitis-infertility syndrome (233666007); Barry-Perkins-Young syndrome (233666007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010220
OMIM®: 279000
Orphanet: ORPHA3471

Definition

Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984). [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
See: Feature record | Search on this feature
Bronchiectasis
MedGen UID:
14234
•Concept ID:
C0006267
•
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
Recurrent sinopulmonary infections
MedGen UID:
339549
•Concept ID:
C1846546
•
Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
See: Feature record | Search on this feature
Congenital pulmonary airway malformation
MedGen UID:
8225
•Concept ID:
C0010668
•
Congenital Abnormality
Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVYoung syndrome
Follow this link to review classifications for Young syndrome in Orphanet.

Professional guidelines

PubMed

Diagnostic value of differential quantification of spermatids in obstructive azoospermia.
Nistal M, González-Peramato P, Paniagua R
J Androl 2003 Sep-Oct;24(5):721-6. doi: 10.1002/j.1939-4640.2003.tb02733.x. PMID: 12954664

Recent clinical studies

Etiology

Impact on using cryopreservation of testicular or epididymal sperm upon intracytoplasmic sperm injection outcome in men with obstructive azoospermia: a systematic review and meta-analysis.
Liu H, Xie Y, Gao L, Sun X, Liang X, Deng C, Gao Y, Liu G
J Assist Reprod Genet 2020 Nov;37(11):2643-2651. Epub 2020 Sep 15 doi: 10.1007/s10815-020-01940-1. PMID: 32935172Free PMC Article

Diagnosis

Young's syndrome, a rare syndrome that can cause infertility and mimics cystic fibrosis and immotile-cilia syndrome: a case report.
Cihanbeylerden M, Kurt B
Eur Rev Med Pharmacol Sci 2022 Sep;26(18):6569-6571. doi: 10.26355/eurrev_202209_29755. PMID: 36196705
Aetiology of bronchiectasis in Guangzhou, southern China.
Guan WJ, Gao YH, Xu G, Lin ZY, Tang Y, Li HM, Lin ZM, Zheng JP, Chen RC, Zhong NS
Respirology 2015 Jul;20(5):739-48. Epub 2015 Mar 26 doi: 10.1111/resp.12528. PMID: 25819403
The combination of Young's syndrome and small cell lung cancer-A spiky connection?
Forster M, Enting D, Nicholson AG, O'Brien M, Popat S
Lung Cancer 2010 Mar;67(3):372-5. Epub 2009 Dec 1 doi: 10.1016/j.lungcan.2009.10.011. PMID: 19954857
Diagnostic value of differential quantification of spermatids in obstructive azoospermia.
Nistal M, González-Peramato P, Paniagua R
J Androl 2003 Sep-Oct;24(5):721-6. doi: 10.1002/j.1939-4640.2003.tb02733.x. PMID: 12954664
Epidemiology of nasal polyps.
Settipane GA
Allergy Asthma Proc 1996 Sep-Oct;17(5):231-6. doi: 10.2500/108854196778662246. PMID: 8922141

Therapy

Aetiology of bronchiectasis in Guangzhou, southern China.
Guan WJ, Gao YH, Xu G, Lin ZY, Tang Y, Li HM, Lin ZM, Zheng JP, Chen RC, Zhong NS
Respirology 2015 Jul;20(5):739-48. Epub 2015 Mar 26 doi: 10.1111/resp.12528. PMID: 25819403
The combination of Young's syndrome and small cell lung cancer-A spiky connection?
Forster M, Enting D, Nicholson AG, O'Brien M, Popat S
Lung Cancer 2010 Mar;67(3):372-5. Epub 2009 Dec 1 doi: 10.1016/j.lungcan.2009.10.011. PMID: 19954857
Tuberculosis, bronchiectasis, and infertility: what ailed George Orwell?
Ross JJ
Clin Infect Dis 2005 Dec 1;41(11):1599-603. Epub 2005 Oct 19 doi: 10.1086/497838. PMID: 16267732

Prognosis

Screening Young syndrome patients for CFTR mutations.
Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR
Am J Respir Crit Care Med 1995 Oct;152(4 Pt 1):1353-7. doi: 10.1164/ajrccm.152.4.7551394. PMID: 7551394

Clinical prediction guides

Young's syndrome, a rare syndrome that can cause infertility and mimics cystic fibrosis and immotile-cilia syndrome: a case report.
Cihanbeylerden M, Kurt B
Eur Rev Med Pharmacol Sci 2022 Sep;26(18):6569-6571. doi: 10.26355/eurrev_202209_29755. PMID: 36196705
Diagnostic value of differential quantification of spermatids in obstructive azoospermia.
Nistal M, González-Peramato P, Paniagua R
J Androl 2003 Sep-Oct;24(5):721-6. doi: 10.1002/j.1939-4640.2003.tb02733.x. PMID: 12954664
Screening Young syndrome patients for CFTR mutations.
Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR
Am J Respir Crit Care Med 1995 Oct;152(4 Pt 1):1353-7. doi: 10.1164/ajrccm.152.4.7551394. PMID: 7551394

Recent systematic reviews

Impact on using cryopreservation of testicular or epididymal sperm upon intracytoplasmic sperm injection outcome in men with obstructive azoospermia: a systematic review and meta-analysis.
Liu H, Xie Y, Gao L, Sun X, Liang X, Deng C, Gao Y, Liu G
J Assist Reprod Genet 2020 Nov;37(11):2643-2651. Epub 2020 Sep 15 doi: 10.1007/s10815-020-01940-1. PMID: 32935172Free PMC Article

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