ESPE Abstracts

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

Introduction: In children with Type 1 diabetes, the insulin dose administered to, fasting blood sugar, the amount of food,contents and glycemic index can affect the postprandial blood sugar. Despite the intensive insulin therapy and carbohydrate (CHO) counting the expected improvements in glycemic control is not observed. Compared to other fast affecting analogues, Insulin glulisine has a faster onset of effect and a shorter duration. It has previously been reported that, in c...

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...