Congenital Adrenal Hyperplasia and Growth Outcomes
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Congenital adrenal hyperplasia (CAH) is a disorder of adrenal gland cortisol biosynthesis caused by key enzyme deficiencies, the most common being 21-hydroxylase in 90–95% cases . Depending on the severity, there are two forms of CAH: classical (a severe enzymatic deficiency with onset in the neonatal period, infancy or childhood) and non-classical (a milder form manifesting in later life). Classical forms are further classified into salt-wasting (SW) (associated with mineralocorticoid deficiency and adrenal crisis) and simple-virilizing (SV) (normal/subclinical mineralocorticoid deficiency) types. The lack of cortisol stimulates pituitary adreno corticotropic hormone (ACTH) release that leads to adrenal hyperplasia and accumulation of cortisol precursors like 17-hydroxyprogesterone (17-OHP), which are shunted to the alternate metabolic pathway of androgen synthesis. High levels of androgens and testosterone manifest as genital virilization in girls and pseudo-precocious puberty in...
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- 1.Bonfig W. Growth and development in children with classic congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes. 2017;24:39–42.Google Scholar
- 3.Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society Clinical Practice. J Clin Endocrinol Metab. 2018;103:4043–88.Google Scholar
- 7.Maheshwari A, Khadilkar V, Gangodkar P, Khadilkar A. Long-term growth in congenital adrenal hyperplasia. Indian J Pediatr. 2018. https://doi.org/10.1007/s12098-018-2753-6.
- 8.Merke DP, Keil MF, Jones JV, Fields J, Hill S, Cutler GB Jr. Flutamide, testolactone, and reduced hydrocortisone dose maintain 665 normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2000;85:1114–20.CrossRefGoogle Scholar