Estrogen resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Estrogen resistance syndrome | |
| fr | Syndrome de résistance aux récepteurs des oestrogènes | |
| de | Östrogen-Resistenz-Syndrom | |
| es | Síndrome de resistencia a estrógenos | |
| it | Sindrome da resistenza agli estrogeni | |
| nl | Oestrogeenresistentiesyndroom | |
| pt | Síndrome resistência aos estrogéneos | |
| pl | Zespół niewrażliwości na estrogeny | |
| cs | Syndrom rezistence na estrogen | |
| uk | Синдром резистентності до естрогенів | |
| zh | 雌激素抵抗综合征 | |
| tr | Östrojen direnci sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615363 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | 5A90 | E | specific | validated |
| MONDO | 0014148 | E | validated | |
| UMLS | C4510972 | 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 (6):
- ORPHA:180208Anomaly of puberty or/and menstrual cycle
rare gynecological and obstetric diseases - ORPHA:202940Anomaly of puberty or/and menstrual cycle of genetic origin
rare genetic diseases - ORPHA:97978Rare endocrine disease
rare endocrine diseases - ORPHA:399831Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:400011Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases - ORPHA:156638Rare genetic endocrine disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ESR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3467 | ENSG00000091831 | 133430 | 6q25.1-q25.2 | estrogen receptor 1 | 8090165[PMID]_23841731[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8090165[PMID]_23841731[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8090165[PMID]_23841731[PMID] |
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
24 annotations · validated 2016-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003117 | Abnormality of circulating hormone level | |
| HP:0008197 | Absence of pubertal development | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0003187 | Breast hypoplasia | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0003799 | Marked delay in bone age | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0001548 | Overgrowth | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0001061 | Acne | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0010679 | Elevated tissue non-specific alkaline phosphatase | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0001952 | Glucose intolerance | |
| HP:0000842 | Hyperinsulinemia | |
| Excluded (0%) | ||
| HP:0030087 | Abnormal testosterone level | |
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0100133 | Abnormality of the pubic hair | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27754803[PMID]_24152274[PMID]_8090165[PMID]_9396482[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/785
- This record as JSON: /data/d/785.json