CLINICAL FEATURES Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ 21-HYDROXYLASE (P450C21) DEFICIENCY Patients with this commonly diagnosed enzyme deficiency cannot adequately synthesize cortisol. Insufficient cortisol synthesis results in overproduction…
EMBRYOLOGY Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ The fetal gonads remain undifferentiated until about the seventh week of gestation (see Chap. 90). At that time, in normal 46,XY…
CONGENITAL ADRENAL HYPERPLASIA Phyllis W. Speiser Congenital adrenal hyperplasia (CAH) is a group of inherited diseases caused by defective activity in one of five enzymes that contribute to the synthesis…
LABORATORY FINDINGS Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ The complete blood count can show a normocytic, normochromic anemia; neutropenia and eosinophilia (rarely >10%); and a relative lymphocytosis. Common chemical…
SYMPTOMS AND SIGNS Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ The symptoms and signs of primary and secondary adrenal insufficiency can be categorized as related to the chronic and acute…
SECONDARY ADRENAL INSUFFICIENCY Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ Secondary adrenal insufficiency has three causes: adrenal suppression after exogenous glucocorticoid or ACTH administration, adrenal suppression after the correction of…
PRIMARY ADRENAL INSUFFICIENCY Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ The two main causes of primary adrenal disease are tuberculosis and autoimmune adrenal destruction.1 The latter is a component of…
SYNDROMES OF ADRENAL INSUFFICIENCY Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ Related posts: REGULATION OF THE GROWTH HORMONE RECEPTOR AND BINDING PROTEIN GONADOTROPE ADENOMAS OF THE PITUITARY PROLACTIN HYPERSECRETION DEFINITIONS…
