Isolated follicle stimulating hormone deficiency
Synonyms: Isolated FSH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated follicle stimulating hormone deficiency | Isolated FSH deficiency |
| fr | Déficit isolé en hormone folliculo-stimulante | Déficit isolé en FSH |
| de | Follicle-Stimulating Hormone (FSH)-Mangel, isolierter | Follikelstimulierendes-Hormon-Mangel, isolierter |
| es | Deficiencia aislada de hormona folículo-estimulante | |
| it | Deficit isolato dell'ormone follicolo-stimolante (FSH) | |
| nl | Geïsoleerde deficiëntie van follikelstimulerend hormoon | Geïsoleerde FSH-deficiëntie |
| pt | Deficiência de hormona foliculo-estimulante isolada | |
| pl | Izolowany Niedobór hormonów stymulujących pęcherzyki | Izolowany Niedobór FSH |
| cs | Izolovaný deficit folikulostimulačního hormonu | Izolovaný deficit FSH |
| uk | Ізольований дефіцит фолікулостимулюючого гормону | Ізольований дефіцит ФСГ |
| zh | 孤立型促卵泡激素缺乏症 | 孤立型FSH缺乏症 |
| tr | İzole folikül uyarıcı hormon eksikliği | İzole FSH eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229070 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0009239 | E | validated | |
| MONDO | 9239 | E | validated | |
| MeSH | C537070 | E | validated | |
| UMLS | C1856716 | E | validated | |
| GARD | 10128 | 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 (2):
- ORPHA:174590Congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:400011Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FSHB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3964 | ENSG00000131808 | 136530 | 11p14.1 | follicle stimulating hormone subunit beta | 15705395[PMID] |
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
22 annotations · validated 2016-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000134 | Female hypogonadism | |
| HP:0008213 | Gonadotropin deficiency | |
| HP:0000026 | Male hypogonadism | |
| Very frequent (99-80%) | ||
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0012569 | Delayed menarche | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000786 | Primary amenorrhea | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| Frequent (79-30%) | ||
| HP:0012864 | Abnormal sperm morphology | |
| HP:0000027 | Azoospermia | |
| HP:0012814 | Bilateral breast hypoplasia | |
| HP:0030018 | Decreased female libido | |
| HP:0010791 | Hyperplasia of the Leydig cells | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000798 | Oligozoospermia | |
| HP:0000029 | Testicular atrophy | |
| Excluded (0%) | ||
| HP:0000458 | Anosmia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 4344039[PMID]_9280841[PMID]_8220432[PMID]_9271483[PMID]_11041762[PMID]_19966036[PMID]_15705395[PMID]_1092710[PMID]_90239[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52901
- This record as JSON: /data/d/52901.json