Primrose syndrome may be associated with a number of laboratory findings and metabolic disorders.

Genetic defect: mutation in ZBTB20


Laboratory findings:

(1) anemia

(2) elevated serum AFP, more noticeable during childhood

(3) elevated serum calcitonin

(4) elevated markers of osteoporosis

(5) increased urinary excretion of organic acids (dicarboxylic acid, ethylmalonic acid, glutaric acid), suggesting disturbed mitochondrial fatty acid oxidation


Metabolic disorders:

(1) diabetes (reduced glucose tolerance)

(2) hypothyroidism, which may be congenital

(3) delayed puberty

(4) growth hormone deficiency


Other disorders:

(1) immunodeficiency

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