Resumo

BENAVIDES, Juliana  e  VIVIANA GALVIS, Paula. Profile of a teenage boy with congenital adrenal hyperplasia. Acta Neurol Colomb. [online]. 2016, vol.32, n.2, pp.144-154. ISSN 0120-8748.

Congenital adrenal hyperplasia (CAH) is a genetic disorder that causes deficits in the synthesis of cortisol. This disease occurs in both genders, it can be diagnosed prenatally and treated from this stage. Physiologically presents ambiguity in the internal and external sex organs that affect the emotional and social development. In the cognitive level can be found two positions one where it is stated that in patients with CAH low scores are presented on IQ (IQ), especially (IQ) verbal and significant differences in patients who have not received treatment in initially time, the other believes that this disease does not affect cognitive processes. In this paper, a single case study of a 13-year HSC is performed in order to describe the cognitive profile of a teenage boy with congenital adrenal hyperplasia and compared with existing studies in the current literature. a cognitive profile was obtained through different neuropsychological tests, finding the patient moderate mental retardation (5Congenital adrenal hyperplasia (CAH) is a genetic disorder that causes deficits in the synthesis of cortisol. This disease occurs in both genders, it can be diagnosed prenatally and treated from this stage. Physiologically presents ambiguity in the internal and external sex organs that affect the emotional and social development. In the cognitive level can be found two positions one where it is stated that in patients with CAH low scores are presented on IQ (IQ), especially (CI) verbal and significant differences in patients who have not received treatment in time, the other believes that this disease does not affect cognitive processes. In this paper, a single case study of a 13-year HSC is performed in order to describe the cognitive profile of a teenage boy with congenital adrenal hyperplasia and compared with existing studies in the current literature. a cognitive profile was obtained through different neuropsychological tests, finding the patient moderate mental retardation and (50 IQ) with major disorders in language and learning.

Palavras-chave : congenital adrenal hyperplasia; cognitive functions; mental retard.

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