Wolfram Syndrome with Primary Gonadal Insufficiency

A 24-year old male patient admitted to our clinic with the complaints of mouth dryness, polyuria, and polydipsia. He was diagnosed with tip 1 Diabetes Mellitus (DM) at the age of seven and intensive insulin therapy was instituted subsequently. Despite the stable blood glucose levels, the daily liquid intake of the patient was 10 liters, and the urine output was 9.5 liters. The patient also had complaints of loss of libido, impotence, erectile and ejaculatory dysfunction in the last 6 months. The insulin therapy was given as insulin aspart 4-unit t.i.d and insulin detemir 12 unit per day. In the physical examination, bilateral gynecomastia was observed. In the hormonal panel; FSH: 45 U/L (N:1.5-12.7), LH:28.4 U/L (N:1.7-8.6), total testosterone: 3.83ng/ml (N:3-10ng/ml), free testosterone: 2.15pg/ml (N:12,00-30,00pg/ml). Bone mineral densitometry revealed low bone mass for chronologic age with the Z score of -2.3 SD. Spermiogram revealed azoospermia. Male karyotype 46, XY was confirmed in the cytogenetic studies. The fluid deprivation test was done and according to the test results the patient was diagnosed with diabetes insipidus. In the fundus examination, bilateral optic atrophy was found out. In the audiogram, the hearing loss with high-frequency sounds was considered to be associated with sensorineural deafness. As the treatment of primary hypogonadism, testosterone was given. As in our case, the patients diagnosed with WS requires long-term follow-up. With early diagnosis and appropriate hormone replacement the quality of patient’s life and prognosis ameliorates