Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM（2013）
关键词
positive placental alkaline phosphatase and octamer binding,already at 1 yr of age,results: all affected individuals three xy,five xx presented neo- natally with undetectable adrenocortical hormones and are respond- ingtoreplacementtherapy.onlytwosistershadneurodevelopmental deficits. histopathological findings of excised xy gonads included accumulation of fat in leydig cells. significantly
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