hrp0084p2-298 | Diabetes | ESPE2015

Early Diagnostics of Wolfram Syndrome

Abdushelishvili Nino , Gordeladze Marina , Kheladze Nino

Background and aims: Wolfram syndrome is rare, progressive autosomal recessive disease with characteristic neurological and endocrine features. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report the family case of Wolfram syndrome with different phenotype variable.Case presentation: Patient 4 years and 4 months old girl with diabetes mellitus since the age of 2 years and 3 months. Born term, hea...

hrp0089p3-p026 | Adrenals and HPA Axis P3 | ESPE2018

Rare Case of Androgen Producing Tumor in 14 Month Old Girl

Kheladze Nino , Lundberg Elena , Totogashvili Nino , Tkeshelalashvili Tinatin

Background: Adrenocortical tumors (ACT) are rare in children. Mostly occurs in younger age, before 4 years and predominantly in girls. ACT represents 1.3% of all carcinomas in paediatric age group and 0.2% of all pediatric neoplasms.Case report: 14 month old girl presented with signs of progressive hirsutism started first few months of life. She was referred to our clinic due to suspect diagnosis of virilizing CAH. Physical exams showed virilization in c...