Endocrine Abstracts

Introduction: Wolfram syndrome is characterized by diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy and sensorineural deafness. DM is the first manifestation and optic atrophy also onsets in the first decade of life. The onsets of DI and sensorineural deafness are in the second decade, urinary tract abnormalities are in the third decade and neurologic abnormalities are in the fourth decade respectively. Hypogonadotrophic hypogonadism is a usual manifestation of the syndrome, however, as in our case, hypergonadotrophic hypogonadism can be rarely seen.

Case report: A 24- year old male patient admitted to our clinic with the complaints of mouth dryness, polyuria and polydipsia. The onset of polyuria, polydipsia, and blurred vision was at the age of six. He was diagnosed with tip 1 DM at the age of seven and intensive insulin therapy was instituted subsequently. It was noticed that despite the good glycemic control, the daily liquid intake of the patient was 10 liter, and the urine output was 9.5 l. The visual complaints of the patient were thought to be related to myopia and diabetic retinopathy. Our patient had complaints of loss of libido, impotence, erectile and ejaculatory dysfunction for the last 6 months. The insulin therapy was started as insulin aspart 4 unit tid and insulin detemir 12 unit per day. In the physical examination; bilateral grade 3 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: 3.83 ng/ml (N:3–10 ng/ml), free testosterone: 2.15 pg/ml (N:12,00–30,00 pg/ml). In the bone mineral densitometry, the Z scores were −2.3 S.D. and revealed low bone mass for chronologic age. Spermiogram was reported as azoospermia. In the cytogenetic studies male karyotype 46, XY was confirmed. 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 diagnosed. In the audiogram, the hearing loss with high-frequency sounds which considered to be related to sensorineural deafness was observed. As the primary treatment of primary hypogonadism, testosterone was started. Because of the minimal regression of bilateral gynecomastia with testosterone therapy, the patient was consulted with plastic and reconstructive surgery.

Conclusion: As in our case, the patients diagnosed with Wolfram syndrome requires long-term follow-up. Early diagnosis and appropriate hormone replacement improve the quality of patients life.