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Non-acquired isolated growth hormone deficiency

Disease definition

A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.

ORPHA:631

Classification level: Disorder
  • Synonym(s):
    • Congenital IGHD
    • Congenital isolated GH deficiency
    • Congenital isolated growth hormone deficiency
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: E23.0
  • OMIM: 173100  262400  262650  300123  307200  612781
  • UMLS: C0013338  C0271561
  • MeSH: -
  • GARD: 12556
  • MedDRA: 10035083

Detailed information

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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.