Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

Congenital adrenal hyperplasia: diagnosis, evaluation, and management.

1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administratio...

Adrenal rest tumours in congenital adrenal hyperplasia.

Congenital adrenal hyperplasia: management during critical illness.

BACKGROUND Little is known of the optimal dose and administration schedule of hydrocortisone in critically ill patients with congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. AIM To determine plasma cortisol concentrations after intravenous administration of hydrocortisone in children with CAH and to relate these to plasma cortisol concentrations achieved by endogenous...