Clinical Signs and Symptoms
ORPHA:785 Estrogen resistance syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of circulating hormone level HP:0003117
- Absence of pubertal development HP:0008197
- Absence of secondary sex characteristics HP:0008187
- Breast hypoplasia HP:0003187
- Delayed epiphyseal ossification HP:0002663
- Enlarged polycystic ovaries HP:0008675
- Hypoplasia of the uterus HP:0000013
- Increased circulating gonadotropin level HP:0000837
- Marked delay in bone age HP:0003799
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Overgrowth HP:0001548
- Primary amenorrhea HP:0000786
- Tall stature HP:0000098
Very frequent
- Acanthosis nigricans HP:0000956
- Acne HP:0001061
- Coronary atherosclerosis HP:0004929
- Elevated tissue non-specific alkaline phosphatase HP:0010679
- Episodic abdominal pain HP:0002574
- Glucose intolerance HP:0000833
- Hyperinsulinemia HP:0000842
Frequent
- Abnormal testosterone level HP:0030087
- Abnormality of the adrenal glands HP:0000834
- Abnormality of the pubic hair HP:0100133
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.