Tip of the iceberg

M. V. DERIABYN, P. G. HJORTH
2009 European journal of applied mathematics  
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of clinical syndromes; among these congenital adrenal hyperplasia (CAH),a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of
more » ... most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The impaired glucocorticoid feedback inhibition at the hypothalamic and anterior pituitary levels leads to increased secretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) respectively, adrenal hyperplasia, and increased production of adrenal androgens and steroid precursors prior to the enzymatic defect . The clinical spectrum of 21-hydroxylase deficiency is quite broad, ranging from the most severe to mild forms, depending on the degree of 21-hydroxylase. Here we report the case of a young woman affected by acne refractory to treatment as the only sign of CAH.
doi:10.1017/s0956792509007876 fatcat:hctpikorljdczcipgkfiujzsyy