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.
|Title of host publication||Maternal-Fetal and Neonatal Endocrinology|
|Subtitle of host publication||Physiology, Pathophysiology, and Clinical Management|
|Number of pages||27|
|State||Published - 9 Oct 2019|
- Adrenal insufficiency