Familial adrenal hypoplasia syndromes

Ioannis Kyrou, C. Tsigos

Research output: Chapter in Book/Published conference outputOther chapter contribution


The adrenal cortex secretes steroid hormones, including glucocorticoids and mineralocorticoids. Glucocorticoids control body homeostasis, stress, and immune responses, while mineralocorticoids regulate the water and electrolyte balance. A spectrum of genetic defects can disrupt the normal adrenal development, causing adrenal hypoplasia and various forms of adrenal insufficiency, which usually present in infancy or childhood with or without mineralocorticoid deficiency and with or without gonadal dysfunction. The genetic causes of adrenal hypoplasia can be broadly categorized into adrenal hypoplasia due to adrenocorticotropic hormone resistance syndromes (i.e., familial glucocorticoid deficiency and triple A syndrome) and adrenal hypoplasia due to primary defects in the development of the adrenal glands (i.e., X-linked adrenal hypoplasia congenita and primary adrenal hypoplasia caused by steroidogenic factor 1 mutations).
Original languageEnglish
Title of host publicationReference module in biomedical sciences
EditorsMichael Caplan
Number of pages4
ISBN (Print)978-0-12-801238-3
Publication statusPublished - 2016


  • ACTH
  • ACTH resistance
  • DAX1
  • familial adrenal hypoplasia syndromes
  • familial glucocorticoid deficiency
  • triple A syndrome
  • x-linked adrenal hypoplasia congenita


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