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Abstract
Congenital adrenal hyperplasia refers to a group of 7 autosomal diseases responsible for disorders originating in adrenal steroidogenesis. The pathophysiology is associated with the hypothalamic-pituitary-adrenal feedback system, which is mediated through the circulating level of plasma cortisol by negative feedback of cortisol on the secretion of corticotropin-releasing factor and adrenocorticotropic hormone, resulting in insufficiency of glucocorticoids and excess of adrenal androgens. Methodology: This is a case report of a patient treated at the Maria Aparecida Pedrossian University Hospital. Case: Patient, male phenotype, appears for investigation of hypodevelopment of the external genitalia. After clinical evaluation and laboratory tests, he was diagnosed with a female genotype (46XX karyotype), with classic congenital adrenal hyperplasia in the non-salt wasting form. After discontinuity in follow-up, he returned at the age of 13, presenting stage V virilization on physical examination according to the Prader virilization scale. Pelvic ultrasound, urethrocystrocystography and computed tomography (CT) of the abdomen and pelvis with retrograde contrast injection were performed. Discussion: The most common cause of patients with the 46XX genotype who present with sexual development disorder is 21-OH congenital adrenal hyperplasia, which is responsible for excess androgens, resulting in virilization and ambiguous genitalia. The internal genitalia are generally normal. The presence of prostate tissue in 46XX patients has been described in a limited number of cases. Conclusion: Congenital adrenal hyperplasia in the classic non-salt-wasting form is a rare pathology, normally presenting with changes in the adrenal glands on imaging examination. Although the method of choice (MRI) was not available, the meticulous analysis of radiological examinations with retrograde contrast allowed the understanding and description of the urogenital changes in the reported patient.
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