Case 127

Medical history

The parents of a 3-year and 8-month-old male child, presented to a medical appointment complaining of aggressive behavior, growth of pubic hair, enlarged penis and episodes of penile erection. Physical examination: 50.9 kg (112,22 lb.) of weight (z-score: > +3), 119,5 cm (3ft and 11 in) of height (z-score: > +3). Presence of hyperpigmented skin spots on the patient’s neck, hands and buttocks and significant testicular asymmetry (left: 8 ml, right: 25 ml). Previous exam results were brought: FSH < 0.66 mIU/mL (RV: 1.55-9.74 mIU/mL), LH < 0.216 MLU/mL (RV: 0.833-15.5 mIU/mL), total testosterone 327.0 ng/dL (RV 20 to 49 years: 132-813 ng/dL). Radiographic and scintigraphic evaluations were also performed and their results are herein attached.

According to the clinical history and the images presented, which is the most likely diagnosis?

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