hrp0086p2-p302 | Diabetes P2 | ESPE2016

Long-Term Follow-Up of Non-Diabetic Obese Children and Adolescents Treated with Metformin

Keskin Melikşah , Cetinkaya Semra , Aycan Zehra

Introduction: Childhood obesity is an important public health problem with increasing prevalence. Type 2 diabetes (T2DM) is strongly associated with obesity and metabolic syndrome. Adressing obesity and insulin resistance by drug treatment represents a rational strategy for the prevention of T2DM.Aim: The aim of our study was to evaluate the one year metformin treatment’s long-term effectiveness in children and adolescent.Meth...

hrp0086p2-p856 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Rare Cause of Short Stature: Patient with 3M Syndrome Revealed a New Mutation in Osbl1 Gene

Keskin Melikşah , Sahin Nursel Muratoglu , Kurnaz Erdal , Bayramoglu Elvan , Erdeve Senay Savas , Aycan Zehra , Cetinkaya Semra

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...

hrp0094p2-85 | Bone, growth plate and mineral metabolism | ESPE2021

One gene, two diseases: osteogenesis imperfecta, or Bruck syndrome?

Arı Hasan , Cetinkaya Semra , Guleray Lafcı Naz , Şakar Merve , Karacan Kucukali Gulin , Keskin Melikşah , Muratoğlu Şahin Nursel , Savaş Erdeve Şenay ,

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by diffuse osteoporosis, recurrent fractures, and resulting deformities. Bruck syndrome (BS) is a rare autosomal recessive disease that manifests with many symptoms of OI. In addition to the deficiency of type I collagen in OI, congenital joint contractures also occur in BS. BS is caused by mutations of FKBP10 (BS type 1) and PLOD2 (BS type 2) genes encoding the chaperone-collagen com...

hrp0094p2-94 | Bone, growth plate and mineral metabolism | ESPE2021

A Rare Cause of Familial Hypomagnesemia: A Case with Trpm6 Mutation

Şakar Merve , Cetinkaya Semra , Karacan Kucukali Gulin , Ozalkak Şervan , Elmaoğulları Selin , Muratoğlu Şahin Nursel , Keskin Melikşah , Lafcı Naz Guleray , Savaş Erdeve Şenay ,

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...