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Abstract
<p class="first" id="d999542e90">Congenital adrenal hyperplasia is a group of autosomal
recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol
biosynthesis. Depending on the type and severity of steroid block, patients can have
various alterations in glucocorticoid, mineralocorticoid, and sex steroid production
that require hormone replacement therapy. Presentations vary from neonatal salt wasting
and atypical genitalia, to adult presentation of hirsutism and irregular menses. Screening
of neonates with elevated 17-hydroxyprogesterone concentrations for classic (severe)
21-hydroxylase deficiency, the most common type of congenital adrenal hyperplasia,
is in place in many countries, however cosyntropin stimulation testing might be needed
to confirm the diagnosis or establish non-classic (milder) subtypes. Challenges in
the treatment of congenital adrenal hyperplasia include avoidance of glucocorticoid
overtreatment and control of sex hormone imbalances. Long-term complications include
abnormal growth and development, adverse effects on bone and the cardiovascular system,
and infertility. Novel treatments aim to reduce glucocorticoid exposure, improve excess
hormone control, and mimic physiological hormone patterns.
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