Oncohema Key

OTHER GENETIC DISORDERS RELATED TO CONGENITAL ADRENAL HYPERPLASIA Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ Several other disorders involve adrenal steroid-synthesizing enzymes. Strictly speaking, the CMO deficiencies and other…

GENETICS Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ The autosomal recessive mode of inheritance of adrenal steroidogenic defects was recognized in the early 1950s.62,63 and 64 The linkage of…

TREATMENT Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ Patients with simple virilizing or salt-wasting classic 21-hydroxylase deficiency or those with 11β-hydroxylase, 17α-hydroxylase/17,20-lyase, and 3β-HSD deficiencies, as well as select…

DIAGNOSIS Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“ POSTNATAL DIAGNOSIS The diagnosis of 21-hydroxylase deficiency may be confirmed by administering an intravenous bolus of ACTH and measuring the resultant…

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…

TREATMENT Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ The treatment of adrenal insufficiency consists of replacing the missing hormones.45 The treatment of an adrenal crisis theoretically would require administration of…

DIAGNOSIS Part of “CHAPTER 76 – ADRENOCORTICAL INSUFFICIENCY“ The diagnosis of adrenal insufficiency requires the presence of both clinical and chemical abnormalities compatible with the known manifestations of the disorder….

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…