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Non-acquired panhypopituitarism

Disease definition

A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.

ORPHA:90695

Classification level: Disorder
  • Synonym(s):
    • Genetic panhypopituitarism
  • Prevalence: -
  • Inheritance: X-linked recessive or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E23.0
  • ICD-11: 5A61.0
  • OMIM: 262600  312000
  • UMLS: C5680191
  • MeSH: -
  • GARD: -
  • MedDRA: 10033662

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.