hrp0095p1-159 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height and bone mineral density of the children who were treated with gonadotropin releasing hormone analogues near the age eight

Bahar Semra , Tolga Ozgen Ilker

Aim: Central precocious puberty (CPP) is defined as premature activation of the hypothalamic–pituitary–gonadal (HPG) axis before the age 8 in girls. Precocious puberty starting at a very young age causes a severe loss in height potential and should be treated with gonadotropin releasing hormone agonists (GnRHa). However, there are controversial results about the benefit of the GnRHa treatment in girls whose CPP is initiated near the age 8. This stu...

hrp0095p1-495 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

A case report of hyperinsulinemic hypoglycemia caused by a heterozygous novel mutation in the insulin receptor gene

Tolga Ozgen Ilker , Bahar Semra , Uyanik Bulent

Introduction: Mutations in the insulin receptor (INSR) gene usually progress with insulin resistance and hyperglycemia. However, rare heterozygous INSR gene mutations that cause hyperinsulinemic hypoglycemia (HH) have also been described. A case with hyperinsulinemic hypoglycemia due to a new variant mutation in the INSR gene, is presented.Case: A 13-month-old male patient was referred to us with complaints of contractio...

hrp0095p1-537 | Multisystem Endocrine Disorders | ESPE2022

A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

Bahar Semra , Tolga Ozgen Ilker , Uyanik Bulent

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland characterized by the absence or thinness of the pituitary stalk, an ectopic posterior pituitary gland and a hypoplastic or aplastic anterior pituitary gland. Our case is an example of this rare syndrome.Case: A 12-month-old male patient was referred to us by pediatric urology for micropenis and undescended testis. He ...

hrp0095p2-49 | Diabetes and Insulin | ESPE2022

A case of diabetes and deafness with heteroplasmic mutations in the mitochondrial DNT1 gene

Tolga Ozgen Ilker , Bahar Semra , Uyanik Bulent

Introduction: Diabetes mellitus can develop as a result different etiology. Mitochondrial diseases may also cause diabetes mellitus. However, mitochondrial mutations are generally thought to be accompanied by a severe clinical finding. We present a patient who is determined 80% heteroplasmic deletion in the MT-DNT1 gene, with hearing loss and mitochondrial diabetes, which is quite different from the classical phenotype.Case:</str...

hrp0095p1-302 | GH and IGFs | ESPE2022

A novel heterozygous STAT5B variant in a patient with resistant atopic dermatitis and short stature.

Bahar Semra , Tolga Ozgen Ilker , Uyanık Bulent

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...

hrp0086p2-p545 | Fat Metabolism and Obesity P2 | ESPE2016

Prevalence of Acanthosis Nigricans and Related Factors in Iranian Obese Children

Sayarifard Fatemeh , Allahverdi Bahar , Sayarifard Azadeh , Ipakchi Sara , Motlaghzadeh Yasaman

Background: Obesity is one of health problems worldwide. Acanthosis nigricans has been considered as a symptom of hyperinsulinemia in children.Objective and hypotheses: We designed this study to evaluate and compare clinical and laboratory findings in Iranian obese children with and without acanthosis nigricans.Material: Seventy-one obese children enrolled. Fasting blood sugar, total cholesterol, triglycerides, alanine aminotransfe...

hrp0082p2-d2-272 | Adrenals &amp; HP Axis (1) | ESPE2014

Timing of precocious pubarche in girls: Does a contemporary subgroup exist?

Tahmiscioglu Feride , Ercan Oya , Ozcabi Bahar , Evliyaoglu Olcay

Background: In 2012, a phenomenon of early isolated gonadotropin-independent thelarche among contemporary girls was reported.Objective and hypotheses: We wanted to evaluate whether a contemporary isolated early pubarche also exists. One way of looking into this is by investigating the age of pubarche in a group of girls with premature pubarche (PP) over time. If some girls had earlier pubarche, then, we would expect a subgroup (i.e. those younger than 8 ...

hrp0082p2-d2-597 | Thyroid (1) | ESPE2014

Thyroid Nodules in Childhood and Adolescence; Clinical, Radiologic and Etiological Evaluation

Evliyaoglu Olcay , Ozcabi Bahar , Tekin Ayse , Bucak Feride , Ercan Oya

Background: Thyroid nodules are less common in childhood but it has higher risk of malignancy. In this study, we aimed to evaluate children and adolescents with thyroid nodules, clinically, radiologically and histopathologically to determine etiologic distrubution.Method: Seventy-one patients (46 females) with the mean age of 10.41±5.03 (0.04–21) years with thyroid nodules were involved in this study. Patients were evaluated by their complaints...

hrp0084p3-884 | Fat | ESPE2015

Vitamin D Status in Iranian Obese and Non-obese Children

Sayarifard Fatemeh , Motlaghzadeh Yasaman , Sayarifard Azadeh , Allahverdi Bahar

Background: Vitamin D deficiency is now a critical issue due to its high prevalence and side effects.Objective and hypotheses:: We assessed the serum vitamin D status of obese and non-obese children and comparing their therapeutic response to identical oral vitamin D consumption in Iran.Method: This study was performed in children aged 2–14 years at Children Medical Center of Tehran in Iran. At first, the serum 25-hydroxy vita...

hrp0089p1-p110 | Fat, Metabolism and Obesity P1 | ESPE2018

Lipid Accumulation Product is a Predictor of Non-alcoholic Fatty Liver Disease in Childhood Obesity

Ozcabi Bahar , Demirhan Salih , Akyol Mesut , Akay Hatice Ozturkmen , Guven Ayla

Objectives: We aimed to evaluate the performance of lipid accumulation product (LAP) to predict non-alcoholic fatty liver disease (NAFLD) in obese children.Methods: Eighty obese chidren (39 girl) were included in this study (6–18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure (n=28), fasting glucose, fasting insulin, HOMA-IR, alanine aminotransferase (ALT), aspartate aminotransferase (...