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Young's 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 syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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)
 
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

Azoospermia
MedGen UID:
504308
Concept ID:
CN000028
Finding
Absence of any measurable level of sperm in his semen.
Decreased fertility
MedGen UID:
504364
Concept ID:
CN000140
Finding
Recurrent bronchitis
MedGen UID:
505369
Concept ID:
CN002562
Finding
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Abnormality of the pancreas
MedGen UID:
427891
Concept ID:
CN001576
Finding
An abnormality of the pancreas.
Recurrent sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Bronchiectasis
MedGen UID:
505109
Concept ID:
CN001911
Finding
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent bronchitis
MedGen UID:
505369
Concept ID:
CN002562
Finding
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Congenital cystic adenomatoid malformation of the lung
MedGen UID:
506423
Concept ID:
CN116692
Finding
Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.
Recurrent sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Recurrent bronchitis
MedGen UID:
505369
Concept ID:
CN002562
Finding
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGYoung's syndrome
Follow this link to review classifications for Young's syndrome in Orphanet.

Recent clinical studies

Etiology

Tsujimura A, Matsumiya K, Koga M, Miura H, Nishimura K, Kitamura M, Kondoh N, Takeyama M, Takahara S, Okuyama A
Arch Androl 2002 Jan-Feb;48(1):29-36. PMID: 11789680
Lissens W, Mercier B, Tournaye H, Bonduelle M, Férec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I
Hum Reprod 1996 Dec;11 Suppl 4:55-78; discussion 79-80. PMID: 9147111
Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY
Hum Reprod 1995 Feb;10(2):338-41. PMID: 7539448
Hendry WF, A'Hern RP, Cole PJ
BMJ 1993 Dec 18-25;307(6919):1579-82. PMID: 8292944Free PMC Article
Verra F, Escudier E, Bignon J, Pinchon MC, Boucherat M, Bernaudin JF, de Cremoux H
Eur Respir J 1991 Sep;4(8):937-44. PMID: 1783084

Diagnosis

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. [Epub ahead of print] PMID: 19954857
Arya AK, Beer HL, Benton J, Lewis-Jones I, Swift AC
J Laryngol Otol 2009 May;123(5):477-81. Epub 2009 Jan 8 doi: 10.1017/S0022215109004307. [Epub ahead of print] PMID: 19128521
Armengot M, Juan G, Carda C, Montalt J, Basterra J
Rhinology 1996 Mar;34(1):35-7. PMID: 8739867
Hasegawa A, Ohe M, Yamazaki K, Kobayashi S, Fujita M, Munakata M, Kawakami Y
Intern Med 1994 Oct;33(10):649-53. PMID: 7827385
Handelsman DJ, Conway AJ, Boylan LM, Turtle JR
N Engl J Med 1984 Jan 5;310(1):3-9. doi: 10.1056/NEJM198401053100102. PMID: 6689737

Therapy

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. [Epub ahead of print] PMID: 19954857
Hirsh AV, Mills C, Bekir J, Dean N, Yovich JL, Tan SL
Hum Reprod 1994 Sep;9(9):1710-6. PMID: 7836523
Clarke SW
Eur Respir J Suppl 1989 Jul;7:599s-603s. PMID: 2679608
Currie DC, Greenstone M, Pavia D, Agnew JE, Pellow P, Clarke SW, Hendry WF, Cole PJ
Thorax 1988 Jun;43(6):480-1. PMID: 3047900Free PMC Article

Prognosis

Pasteur MC, Helliwell SM, Houghton SJ, Webb SC, Foweraker JE, Coulden RA, Flower CD, Bilton D, Keogan MT
Am J Respir Crit Care Med 2000 Oct;162(4 Pt 1):1277-84. doi: 10.1164/ajrccm.162.4.9906120. PMID: 11029331
Nistal M, Riestra ML, Galmés-Belmonte I, Paniagua R
Am J Surg Pathol 1999 Dec;23(12):1546-54. PMID: 10584709
Hendry WF, A'Hern RP, Cole PJ
BMJ 1993 Dec 18-25;307(6919):1579-82. PMID: 8292944Free PMC Article

Clinical prediction guides

Pasteur MC, Helliwell SM, Houghton SJ, Webb SC, Foweraker JE, Coulden RA, Flower CD, Bilton D, Keogan MT
Am J Respir Crit Care Med 2000 Oct;162(4 Pt 1):1277-84. doi: 10.1164/ajrccm.162.4.9906120. PMID: 11029331
Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY
Hum Reprod 1995 Feb;10(2):338-41. PMID: 7539448
Hendry WF, A'Hern RP, Cole PJ
BMJ 1993 Dec 18-25;307(6919):1579-82. PMID: 8292944Free PMC Article
Verra F, Escudier E, Bignon J, Pinchon MC, Boucherat M, Bernaudin JF, de Cremoux H
Eur Respir J 1991 Sep;4(8):937-44. PMID: 1783084
Hughes TM 3rd, Skolnick JL, Belker AM
J Urol 1987 Jun;137(6):1238-40. PMID: 3586166

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