CAH diagnosis is based on family medical history, genetic tests to determine the sex of the newborn, as well as laboratory tests to measure the levels of aldosterone and cortisol, as well as 17-OH progesterone, serum electrolytes, 17-ketosteroids or 17-hydroxycorticosteroids; x-ray exams to determine bone age.
El diagnóstico de HSRC se basa en antecedentes heredofamiliares, prueba genética, para determinar el sexo del niño así como exámenes de laboratorio donde se mide la cantidad de aldosterona y cortisol, 17-OH progesterona = electrolitos séricos, examen de orina, 17-cetosteroides ó 17-hidroxicorticoesteroides. Exámenes radiográficos, determinan la edad ósea.