hrp0092fc10.6 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Evaluation of Basal and GNRH-stimulated AMH Levels in Central Precocious Puberty, Peripheral Precocious Puberty and Premature Thelarche

Sahin Nursel Muratoglu , Yilmaz Aslihan Arasli , Erdeve Senay Savas , Cetinkaya Semra , Aycan Zehra

Objective: AMH decreases by 30% in the first two years following puberty. Although it is known that AMH is associated with FSH and LH, the AMH response to rapid changes in GnRH is not known clearly in puberty. It has been shown that AMH levels in central precocious puberty (CPP) are lower than in premature thelarche (PT), but the levels of AMH in peripheral precocious puberty (PPP) have not been evaluated. The aim of this study was to evaluate the basal an...

hrp0092p1-284 | Thyroid (1) | ESPE2019

Different Endocrine Affects in DICER-1 Syndrome

Yilmaz Aslihan Arasli , Aycan Zehra , Erdeve Senay Savas , Çetinkaya Semra

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...

hrp0092p1-342 | Fat, Metabolism and Obesity (2) | ESPE2019

Can Increased First Hour Glucose Concentration in OGTT Be a New Indicator in Projecting Metabolic Profile?

Sahin Nursel Muratoglu , Yilmaz Aslihan Arasli , Özalkak Servan , Aycan Zehra

Aim: Recent studies have shown that the first hour glucose concentration of ≥155 mg / dL in the oral glucose tolerance test (OGTT) in adults with normal glucose tolerance (NGT) may be a strong marker for the development of diabetes, and also an increase in subclinical inflammation, insulin resistance, dyslipidemia and serum transaminases. These results indicate that adults with NGT have increased risk of developing cardiovascular disease and non-alcoholi...

hrp0092p2-198 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Evaluation of Diagnosis, Follow-up and Treatment Results of Growth Hormone in Rare Diseases; 10 Year Single Center Experience

Aycan Zehra , Arasli Yilmaz Aslihan , Yel Servet , Savas Erdeve Senay , Çetinkaya Semra

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...

hrp0086p2-p157 | Bone & Mineral Metabolism P2 | ESPE2016

A Case with Lethal Perinatal Hypophosphatasia

Ucakturk Seyit Ahmet , Demirel Fatma , Gonulal Deniz , Elmaogullari Selin , Yilmaz Aslihan , Unal Sevim

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

hrp0094p2-473 | Thyroid | ESPE2021

A rare cause of congenital hypothyroidism: Brain-lung-thyroid syndrome

Yilmaz Aslihan Arasli , Erdeve Senay Savas , Yuksel Deniz , Oztoprak Ulkuhan , Cetinkaya Semra

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hy...

hrp0095p1-584 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Late Reperfused Ovarian Torsion Diagnosed as Acute Appendicitis in a Prepubertal Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Ozkaya Donmez Beyhan , Karaman Ibrahim , Uner Çigdem , Savas Erdeve Senay , Cetinkaya Semra

Introduction: Ovarian torsion (OT) occurs with partial or complete obstruction of blood flow as a result of rotation of the ovary around the infundibulopelvic ligament and/or utero-ovarian ligament. OT is very rare in the pediatric population. Although the most common form of presentation is abdominal pain, the unclear symptom profile in children can often result in missed diagnosis or late diagnosis. For the preservation of ovarian functions and future fertil...

hrp0092p1-348 | Fat, Metabolism and Obesity (2) | ESPE2019

Evaluation of the Relationship Between Serum Uric Acid Level and Cardiometabolic Risk in Obese Children and Adolescents

Yilmaz Aslihan Arasli , Sahin Nursel Muratoglu , Bayramoglu Elvan , Özalkak Servan , Erdeve Senay Savas , Çetinkaya Semra , Aycan Zehra

Background: In adult studies, serum uric acid level (SUA) has been shown to be associated with cardiometabolic anomalies of metabolic syndrome such as insulin resistance, hypertension, increased carotid intima thickness, and hyperuricemia is considered as an independent risk factor for atherosclerosis and cardiovascular disease. Early cardiovascular changes in obese children and studies on the relationship between metabolic syndrome and hyperuricemia are quite...

hrp0086p2-p312 | Diabetes P2 | ESPE2016

A Novel Glucokinase Gen Mutation: Mody Type-2 Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Demirel Fatma , Tayfun Meltem , Ahmet Ucakturk Seyit , Gurbuz Fatih , Kemal Topaloglu Ali

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...