hrp0092p1-330 | Diabetes and Insulin (2) | ESPE2019

Evaluation of Clinical, Laboratory and Therapeutic Features and Long Term Follow-up Results in 44 Cases with Genetic Diagnosis of MODY; Single Center Experience

Ozalkak Servan , Keskin Meliksah , Çetinkaya Semra , Erdeve Senay Savas , Bayramoglu Elvan , Aycan Zehra

Introduction-Aim: MODY;It is an autosomal dominant, rare type of diabetes that occurs in young people as a result of mutations of beta cell function and genes involved in insulin secretion. The cases may be misdiagnosed as Type1 and Type2 diabetes. Considering that MODY is clinically and genetically heterogeneous, the findings should be evaluated correctly. It is important to define the clinical-laboratory characteristics of diagnosis and follow-up of patients...

hrp0094p2-242 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Long-term follow-up in a case with congenital hyperinsulinemic hypoglycemia with a novel p.Ser1389Pro mutation in ABCC8 gene

Karacan Kucukali Gulin , Karacan Kucukali Gulin , Savas Erdeve Senay , Ozalkak Servan , Bayramoglu Elvan , Keskin Meliksah , Aycan Zehra , Cetinkaya Semra ,

Introduction: Hyperinsulinemic hypoglycemia is one of the most common causes of severe and persistent hypoglycemia in neonates and children. Early diagnosis and appropriate treatment prevent brain damage due to recurrent hypoglycemia. Genetic examination often can guide the treatment. The most common affected genes are the ABCC8 and KCNJ11 genes, which encode the SUR1 and Kir6.2 KATP channels, respectively. Here, a neonate with a novel variant in AB...

hrp0094p2-368 | Pituitary, neuroendocrinology and puberty | ESPE2021

Sterile Abscess Formation with Two Different GnRH Analogues: Three Case Reports

Karacan Kucukali Gulin , Ozalkak Şervan , Nur Peltek Kendirci Havva , Bostancı İlknur , Savas Erdeve Senay , Cetinkaya Semra ,

Introduction: Gonadotropin releasing hormone analogs(GnRHa) have been used safely for many years in the treatment of central precocious puberty(CPP).Although rare; pain, swelling, erythema at the injection site are known local side effects in patients receiving GnRHa treatment and are temporary.Sterile abscess(SA) development is also one of the rare local side effects.We presented three cases of treatment failure due to the development of SA after GnRHa therap...

hrp0094p2-314 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Shox Gene Pathologies In Children With Short Stature And Madelung Deformity

Şakar Merve , Muratoğlu Şahin Nursel , Cetinkaya Semra , Karacan Kucukali Gulin , Kurnaz Erdal , Guleray Lafcı Naz , Ozalkak Şervan , Aycan Zehra , Savaş Erdeve Şenay ,

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.<...

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...