Congenital Adrenal Hypoplasia (AHC) is a genetic disorder that results from a number of causes, ranging from deficiency in functioning of the Adrenocorticotropic Hormone (ACTH) to defects in the ACTH receptor. Primary Congenital Adrenal Hypoplasia is caused due to defects in the development and differentiation of the adrenal cortex. Affected children present with vomiting, feeding difficulties, dehydration, failure to thrive, salt wasting, hypoglycemic convulsions, and hyperpigmentation in the first months of life. They show no response to ACTH stimulation, and plasma concentrations of mineralocorticoids and glucocorticoids are decreased. Some patients have undescended testes, and may have micropenis, hypospadias or cryptorchidism. Histologically, the adrenal glands lack the definitive zone of the adrenal cortex and are characterized by large vacuolated cells resembling fetal adrenocortical cells.
Diagnosis of AHC can be made based on the clinical signs. Abdominal CT can be useful for diagnosis, except in the case of infants, since the fetal adrenal zone is preserved in them. In infants, abdominal ultrasound may be more useful. Early diagnosis of the condition is essential for effective management. Initial management involves stabilizing salt and glucose levels. Patients are treated with glucocorticoids and mineralocorticoids, and should have enough sodium and fluids in their diet. Some patients may develop hypogonadotropic hypogonadism, while some may develop sensorineural hearing loss.