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Generalized glucocorticoid resistance syndrome

Disease definition

A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.

ORPHA:786

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: All ages
  • ICD-10: E25.8
  • OMIM: 615962
  • UMLS: C1841972
  • MeSH: -
  • GARD: 2499
  • MedDRA: -
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