hrp0082p2-d3-341 | Diabetes (2) | ESPE2014

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Hancili Suna , Guven Ayla , Apaydin Suheyla , Ardagil Aylin , Perez Diana Valverde

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

hrp0084p3-999 | Gonads | ESPE2015

Sertoli Cell Tumour in a Case of Androgen Insensitivity Syndrome

Erdeve Senay Savas , Aycan Zehra , Keskin Meliksah , Cetinkaya Semra , Karaman Ayse , Apaydin Sema , Cakmakci Emin

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...