HIGHLIGHTS
- who: DanielBravo Nieto from the (UNIVERSITY) have published the article: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, in the Journal: (JOURNAL)
- what: The authors report the case of a patient with symptoms of hypoaldosteronism.
SUMMARY
Objectives: Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations. Testing included very long chain fatty_acids to exclude adrenoleukodystrophy, the CYP11B2 gene (aldosterone synthase), and an MRI to screen for other morphological abnormalities. After cortisol deficiency . . .
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