Orphanet: X linked adrenal hypoplasia congenita due to a NR0B1 point mutation

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X-linked adrenal hypoplasia congenita due to a NR0B1 point mutation

Disease definition

A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.


Classification level: Disorder
  • Synonym(s):
    • X-linked AHC due to a NR0B1 point mutation
    • X-linked congenital adrenal hypoplasia due to a NR0B1 point mutation
  • Prevalence: -
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E27.1
  • OMIM: 202155  300200
  • UMLS: C0220766  C0342482
  • MeSH: -
  • GARD: 555
  • MedDRA: -

Detailed information


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