Introduction: Wolfram syndrome, is a rare autosomal recessive genetic disorder that is characterized by diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy, and sensorineural deafness as well as various other possible disorders. 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. Hypogonadotropic hypogonadism is a usual manifestation of the syndrome; however, as in the present case, primary hypogonadism can be rarely seen. Herein, we aimed to present a case of Wolfram syndrome with primary hypogonadism.
Case report: A 25- year old male patient admitted to our clinic with complaints of polydipsia, polyuria, and mouth dryness. The onset of DI and optic atrophy was at the age of thirteen and started desmopressin therapy. He was diagnosed with DM at the age of fourteen, and intensive insulin therapy was instituted subsequently. His polyuria and polydipsia complaints continued even at times with oral desmopressin treatment when his blood glucose levels were at normal values. The patient’s laboratory tests revealed sodium:148 mEq/l (136–146) urine density:1005.In the hormonal panel; FSH: 33.4 IU/l (1.5–12.4), LH: 30.9 IU/l (1.7–8.6), total testosterone: 335 ng/dl (280–800). Serum IGF-1, ACTH, cortisol, TSH, free T4 levels were normal. Desmopressin (melt) dose was eventually titrated up to a 360 mg bid. Even with this dose, he was putting out 4 liters of urine daily. Therefore oral desmopressin therapy stopped, and desmopressin was started ten mg intranasally at three times a day. After intranasal desmopressin, his urine output decreased, and serum sodium gradually improved to 140 mmol/l. In the hypophysis MRI, gland dimensions were normal, and there were neither adenoma nor cystic lesions. In the scrotal ultrasonography, bilateral testicles were in the scrotum, and the sizes were slightly smaller than normal. Spermiogram analysis was revealed compatible with azoospermia. There were no trauma, surgery, infection, or cytogenetic defect history that could be related with primary hypogonadism. So primary hypogonadism was accepted as a component of Wolfram syndrome.
Discussion: As in the present case, the patients diagnosed with Wolfram syndrome requires long-term follow-up because of the various clinical disorders that can occur over the years. Primary hypogonadism should be kept in mind in case of symptoms and signs of hypogonadism at Wolfram syndrome.
05 Sep 2020 - 09 Sep 2020