17 Alpha-Hydroxylase Deficiency (17OHD ... the diverse clinical manifestations of 17OHD and the implications for patient management. For instance, one study identified eight different mutations ...
Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...
A patient may have pituitary deficiency subsequent to severe head trauma, for example, or precocious puberty due to exposure to exogenous hormones. Cancers of endocrine tissues, which may be due ...