Endocrine Abstracts

Introduction: Wolfram syndrome, a very rare condition, is a neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) which appear in childhood, hampering diagnosis and treatment. Others less frequent features as hypergonadotropic hypogonadism, microvascular disease and local fibromatosis are reported in a male patient diagnosed at the age of 18 years.

Case report: An 18-year-old male patient diagnosed with Wolfram syndrome at the age of 5 due to association of diabetes mellitus, deafness and diabetes insipidus is admitted to endocrinological clinic due to short stature and lack of secondary sexual characteristics. The clinical examination revealed a height at – 2.5 S.D., Tanner II puberty stage and palmar fibromatosis (Dupuytren’s contracture). Hormonal profile was normal for TSH, fT₄, cortisol and prolactine but suggestive for hypergonadotropic hypogonadisme due to high levels of FSH and LH in association with low levels of testosterone. On fundoscopic examination, he has bilateral optic atrophy and diabetic retinopathy. The urological exam. (ultrasound and urography) diagnosed bilateral hydroureteronephrosis and atonic bladder. Audiometry showed bilateral high frequency hearing loss. The cranial CT scan confirms the optic atrophy without other abnormalities.

Conclusion: The presence of diabetes insipidus and sensorineural deafness in the first decade not in the second, dilated renal outflow tracts in the second decade not in the third, the hypergonadotropic hypogonadism, diabetic retinopathy and palmar fibromatosis makes this case particular and emphasize the requirement of complete and complex evaluation of the patient with Wolfram syndrome regardless the age.