ESPE Abstracts

Introduction: Syndromic and monogenic obesities are rare and may have different treatment challenges and options. Patients with POMC, PCSK1, and LEPR mutations can receive setmelanotide therapy. Setmelanotide acts on the melanocortin 4 receptor. Here, as a participant in the Rare Obesity Advanced Diagnosis Project, the results of our patient data are presented.Method: Patients who became obese before the age of 5 and/or ...

The monocarboxylate transporter 8 (MCT8) is essential for transporting thyroid hormones to the brain. MCT8 deficiency occurs in SLC16A2 gene variants; patients usually present with neurological symptoms and are diagnosed with cerebral palsy or central hypothyroidism. Recently, 3,3',5-triiodothyroacetic acid (Triac) is used in treatment. This study aimed to evaluate the diagnosis and follow-up processes of five MCT8 deficiency patients. Five patients with variants in the S...

Introduction: Central precocious puberty (CPP) is a condition characterized by early signs of sexual development. Mutations in the MKRN3 gene located on chromosome 15q11.2 are rare but are among the most common causes of familial precocious puberty. Early signs of puberty may occur due to the inability to produce this inhibitory protein normally or due to its malfunction resulting from mutations in the MKRN3 gene. Mutations in the MKRN3 gene follow autosomal d...

It is known that treatment reminder digital applications improve treatment compliance & response & healthcare expenses. Groconnect (mobile reminder) application is used by patients receiving growth hormone treatment (GHt), with its injection alarm/reminder/informative videos. Here, our three month preliminary data from our one-year follow-up study (aims to determine the effects of GroConnect use on treatment compliance & treatment response) is presented.<p clas...