2013, Number 4
Rev Endocrinol Nutr 2013; 21 (4)
Late onset of congenital adrenal hyperplasia. A case report
Martínez-Borja LM, Vergara-López A, Guillén-González MÁ
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Language: Spanish
References: 9
Page: 187-190
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ABSTRACT
The congenital adrenal hyperplasia (CAH) comprises a group of autosomal recesive disorders caused by deficient adrenal corticosteriod biosynthesis. We present the case seventeen years old woman who started since her menarche with oligomenorrea to amenorrea evolution, four years later, accompanied by acne, hirsutism, red-purple striae and obesity. In his secondment hospital, based on a negative 1 mg dexamethasone suppression test and high serum levels of adrenocorticotropine, Cushing´s disease (CD) was suspected. Transesfenoidal resection of a pituitary microadenoma was made with resolution of the symptoms only for 11 months, when urine cortisol was found to be elevated over 100 µ/d, so that she was referred for recurrence. The 17-hydroxyprogesterone levels were reported in 430 ng/dL, so CAH and Pseudocushing was diagnosed with exclusion of CD. Dexamethasone treatment was started. The main cause of CAH is 21-hydroxylase deficiency, but different clinical variants are identified, as the non-classical variant. By definition, CAH and hypercortisolism are mutually exclusive conditions, so, in this patient with both manifestations, other causes as cortisone reductase are necessary to be considered. The CAH diagnosis could be difficult and requires the thorough evaluation of the adrenal function, which highlights the importance of this case.REFERENCES