Young syndrome
Synonyms: Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Young syndrome | Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome |
| fr | Syndrome de Young | Syndrome d'azoospermie-infections pulmonaires-sinusite · Syndrome de sinusite-infertilité |
| de | Young-Syndrom | Azoospermie-sinopulmonale Infektionen-Syndrom · Syndrom der Sinusitis und Unfruchtbarkeit |
| es | Síndrome de Young | Síndrome de azoospermia-infecciones sinopulmonares · Síndrome de sinusitis-infertilidad |
| it | Sindrome di Young | Sindrome azoospermia-infezioni sinopolmonari · Sindrome sinusite-infertilità |
| nl | Syndroom van Young | Azoöspermie - sinopulmonale infecties-syndroom · Sinusitis - infertiliteit-syndroom |
| pt | Síndrome Young | Síndrome de azoospermia-infeções sinopulmonares · Síndrome de sinusite-infertilidade |
| pl | Zespół Younga | Azoospermia - infekcje zatoki płuc |
| cs | Youngův syndrom | Syndrom zahrnující azoospermii a sinopulmonární infekci |
| uk | Синдром Юнга | Синдром азооспермії та синьо-легеневих інфекцій · Синдром синуситу-безпліддя |
| zh | Young 综合征 | 无精子症-窦肺感染综合征 |
| tr | Young sendromu | Azospermi-sinopulmoner enfeksiyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 279000 | E | validated | |
| ICD-10 | N46 | NTBT | attributed | validated |
| ICD-11 | CB40.1 | E | specific | validated |
| MONDO | 0010220 | E | validated | |
| MeSH | C536718 | E | validated | |
| UMLS | C0340037 | E | validated | |
| GARD | 341 | E | validated | |
| MedDRA | 10063689 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:399824Rare disorder with obstructive azoospermia
rare infertility disorders - ORPHA:400003Rare genetic disorder with obstructive azoospermia
rare genetic diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1301Bronchiectasis-oligospermia syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2025-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000144 | Decreased fertility | |
| HP:0011962 | Obstructive azoospermia | |
| HP:0002837 | Recurrent bronchitis | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| Frequent (79-30%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0002110 | Bronchiectasis | |
| HP:0034315 | Chronic cough | |
| HP:0002257 | Chronic rhinitis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0100582 | Nasal polyposis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0032341 | Reduced forced vital capacity | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0003251 | Male infertility | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30969689[PMID]_36196705[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3471
- This record as JSON: /data/d/3471.json