Estrogen Resistance Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Estrogen Resistance Syndrome

  • Pain
  • Delayed skeletal maturation
  • Osteoporosis
  • Abdominal pain
  • Osteopenia
  • Amenorrhea
  • Overgrowth
  • Epidermal acanthosis
  • Primary amenorrhea
  • Tall stature

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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.

Alternative names

Estrogen Resistance Syndrome Is also known as estrogen insensitivity.

Researches and researchers

Currently, 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.


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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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