Introduction: Wolfram syndrome has characterized by central diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness. In this report we presented a Wolfram syndrome with hypergonadotropic hypogonadism.
Case: A 18-year-old girl who has diabetes for 6 years was hospitalized due to blood sugar irregularity. Her medical history revealed frequent urination and enuresis for 23 years and primary amenorrhea. Furthermore she had hear and visual decrease for 23 months. She did not finish primary school due to frequent hypoglycemia and learning disability. In physical examination blood pressure, pulse, height and weight were 110/70 mmHg, 72 beats/min, 143 cm and 43 kg respectively, breast development was Tanner stage 1, axillary and pubic hair were Tanner stages 12. In laboratory fasting blood glucose, HbA1c, creatinine, FSH, LH, estradiol and urine density were 275 mg/dl, 13.6%, 0.7 mg/dl, 49.91 mU/ml, 28.065 mU/ml, 25.24 pg/ml and 1004 respectively. In Abdomen ultrasound ovaries were not detected, uterus was hypoplasic. Intravenous pyelography revealed grade 3 hydroureteronephrosis in both kidney. After urodynamic and voiding tests neurogenic flask bladder diagnosis was established and intermittent catheterization was suggested to patient. Fluid restriction test was performed for low urine density and result was appropriate for central diabetes insipidus. Visual and auditory evaluation detected optic atrophy and mild bilateral sensorimotor hearing loss. The patient was diagnosed as Wolfram syndrome with DI, DM, optic atrophy, hypergonadotropic hypogonadism and urogenital abnormalities. After a family history evaluation one cousin was evaluated due to diabetes and hear loss and diagnosed as Wolfram syndrome as well.
Discussion: In Wolfram syndrome DM and optic atrophy develop in first decade, DI and sensorineural hear loss develop in second decade, urinary abnormalities develop in third decade and multiple neurologic abnormalities develop in fourth decade. Hypogonadism that seen in Wolfram syndrome is usually hypogonadotropic but rarely hypergonadotropic hypogonadism may be seen. Our patient had hypergonadotropic hypogonadism. All components of Wolfram syndrome was developed in our patient. It is important for early diagnosis and treatment to evaluate type 1 diabetes patients in terms of Wolfram syndrome components, this may prevent complications.
03 - 07 May 2014
European Society of Endocrinology