Estrogen Resistance Syndrome
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.
Genes related to Estrogen Resistance Syndrome
Clinical FeaturesTop most frequent phenotypes and symptoms related to Estrogen Resistance Syndrome
- Delayed skeletal maturation
- Abdominal pain
- Epidermal acanthosis
- Primary amenorrhea
- Tall stature
And another 22 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Estrogen Resistance Syndrome Is also known as estrogen insensitivity.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Sources and references
You can check the following sources for additional information.OMIM ORPHANET Rare Disease Search Engine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NOONAN SYNDROME 7; NS7 LEBER CONGENITAL AMAUROSIS 2; LCA2 OCULOCUTANEOUS ALBINISM TYPE 1A GABRIELE-DE VRIES SYNDROME; GADEVS