Disorders of the Adrenal Cortex in the Fetus and Neonate

Ahmed Khattab, Mithra L. Narasimhan, Anne Macdonald, Gertrude Costin, Maria New

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations


The clinical signs, symptoms, and hormonal abnormalities of adrenal cortex disorder are dictated by the degree of involvement of the mineralocorticoid, glucocorticoid, and sex hormone pathways secreted by the zona glomerulosa, zona fasciculata, and zona reticularis, respectively. The causal genetic mutations leading to many adrenal disorders have been identified. Careful interpretation of clinical, hormonal, and genetic data assists in reaching an accurate diagnosis. This chapter describes genetic adrenocortical disorders of neonatal and fetal onset, including syndromic adrenal disorders.

Original languageEnglish
Title of host publicationMaternal-Fetal and Neonatal Endocrinology
Subtitle of host publicationPhysiology, Pathophysiology, and Clinical Management
Number of pages27
ISBN (Electronic)9780128148235
ISBN (Print)9780128148242
StatePublished - 1 Jan 2020


  • Adrenal insufficiency
  • Androgens
  • Genetics
  • Glucocorticoid
  • Mineralocorticoid


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