Congenital Adrenal Hyperplasia-When Clinical Symptoms Are Missing

Congenital adrenal hyperplasia is an autossomic recessive condition. The most common mutation is in the CYP21A2 gene situated in chromosome 6, leading to a 21-hydroxylase deficiency. Clinical presentation ranges from light hyperandrogenism to potentially fatal adrenal salt-losing crisis. In this study, we describe a case of congenital adrenal hyperplasia in a male newborn.

A male newborn was brought to the emergency department owing to an episode of regurgitation after feeding, followed by pallor of the skin and decreased activity. In physical examination, he was hypotonic with irregular respiratory pattern. Heart rate was 180 beats per minute, blood pressure levels were 93/63 mm Hg, and peripheral oxygen saturation was 80% to 84% associated with a sine wave pattern in the electrocardiogram. No scrotal hyperpigmentation was present. The venous blood gas analysis showed a metabolic acidosis (pH, 7.28; pCO2, 41 mmHg; sodium bicarbonate, 18.2 mmol/L; and base excess of -7), hyperkalemia (9.3 mmol/L), and hyponatremia (112 mmol/L). Based on these findings, the most probable diagnosis was a salt wasting form of congenital adrenal hyperplasia. Treatment of hyperkalemia and sodium deficit correction were initiated, as well as glycorticoid therapy. The concentration of 17-hydroxyprogesterone in dried blood spot confirmed the diagnosis.

Because of the severity of this disease and the risk for rapid hemodynamical collapse, clinicians should be aware of this condition. In this specific case, we highlight the absence of testicular hyperpigmentation, which is a hallmark of this condition.