Wolfram syndrome (WS) is a form of monogenic diabetes that typically presents with diabetes mellitus in childhood and optic atrophy by the age of 16. Many individuals with WS eventually develop diabetes insipidus and deafness, hence the acronym, DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Additional morbidities include hypogonadism, infertility, hypopituitarism [4], cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract problems . WS is the result of autosomal recessive mutations affecting the WFS1 gene, which is implicated in endoplasmic reticulum (ER) function. #WOLFRAMSYNDROME #SUMMARY #ENDOCRINOLOGY #POSTERIOR PITUITARY
