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Condenital Adrenal Hyperplasia

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Key Points 2 ➤ All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. ➤ Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks. ➤ Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older. ➤ All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants. ➤ Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life. ➤ Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects. ➤ Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems.

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