ESTROGEN RESISTANCE

General Information (adopted from Orphanet):

Synonyms, Signs: ESTROGEN INSENSITIVITY
ESTRR
Number of Symptoms 24
OrphanetNr:
OMIM Id: 615363
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0000842) Hyperinsulinemia 39 / 7739
3
(HPO:0002750) Delayed skeletal maturation 250 / 7739
4
(HPO:0000938) Osteopenia 138 / 7739
5
(HPO:0001216) Delayed ossification of carpal bones 30 / 7739
6
(HPO:0000833) Glucose intolerance 20 / 7739
7
(OMIM) Elevated serum estrone (in male and female patients) 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Decreased bone mineral density of lumbar spine (in male patient) 1 / 7739
10
(OMIM) Large multicystic ovaries 1 / 7739
11
(OMIM) Continued growth into adulthood (in male and female patients) 1 / 7739
12
(OMIM) Low cortical volumetric bone density (in male patient) 1 / 7739
13
(OMIM) Breast development unresponsive to oral estrogen 1 / 7739
14
(OMIM) Elevated serum luteinizing hormone (in male and female patients) 1 / 7739
15
(OMIM) Elevated serum follicle-stimulating hormone (in male and female patients) 1 / 7739
16
(OMIM) Small uterus 4 / 7739
17
(OMIM) Severe facial acne (in female patient) 1 / 7739
18
(OMIM) Tanner stage 4 pubic hair 1 / 7739
19
(OMIM) Elevated serum estradiol (in male and female patients) 1 / 7739
20
(OMIM) Low trabecular volumetric bone density (in male patient) 1 / 7739
21
(OMIM) Incomplete epiphyseal closures in adulthood (in male and female patients) 1 / 7739
22
(OMIM) Acanthosis nigricans, axillary (in male patient) 1 / 7739
23
(OMIM) Early atherosclerosis of coronary artery (in male patient) 1 / 7739
24
(OMIM) Absent breast development 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Smith et al. (1994) described a 28-year-old man with estrogen resistance. He was 204 cm tall and had incomplete epiphyseal closure, with a history of continued linear growth into adulthood despite otherwise normal pubertal development. He was normally ...
Molecular genetics OMIM In a 28-year-old man with estrogen resistance, Smith et al. (1994) performed single-strand conformation polymorphism analysis of the ESR1 gene (133430) and observed a variant banding pattern in exon 2. Direct sequencing revealed a homozygous nonsense mutation (R157X; ...