hrp0095p1-526 | Growth and Syndromes | ESPE2022

A Case of Short Stature Presenting with Multiple Exocytosis

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

hrp0086p1-p453 | Fat Metabolism and Obesity P1 | ESPE2016

The Effect of Subclinical Hypothyroidism (SH) and Treatment of SH with L-T4 on Basal Metabolic Rate in Obese Children: A Prospective Study

Muzafferova Nigar , Bas Serpil , Atay Zeynep , Bereket Abdullah , Turan Serap

Introduction: Subclinical hypothyroidism (SH) is reported up to 20% of obese population and thyroid hormone replacement in these individuals are controversial. In this study, we aimed to determine the effect of thyroid hormones on basal metabolic rate (BMR) in obesity and, thyroid hormone replacement on BMH and weight in obese patients with SH.Method: The study was conducted in 31 obese children (15 of them had subclinical hypothyroidism) admitted to our...

hrp0092p3-80 | Diabetes and Insulin | ESPE2019

A Real-Life Experience with a New Insulin Co-Formulation Degludec/Aspart for one Year in Poorly Controlled Children and Adolescents with Type 1 Diabetes

kirkgoz tarik , Eltan Mehmet , Betul Kaygusuz Sare , yavas abali Zehra , Guran Tulay , Bereket Abdullah , Turan Serap

Achieving optimal metabolic control can be extremely challenging in some children and adolescents with T1DM. The adherence to multiple injections/day is among the leading causes of suboptimal control. Recently insulin degludec/aspart co-formulation (70%IDeg+30%IAsp: IDegAsp) has become available. Because of the longer-duration of IDeg, and retained individual pharmacokinetics of IDeg and IAsp, we wanted to test insulin IDegAsp's efficacy in our patients with po...

hrp0089p1-p016 | Adrenals and HPA Axis P1 | ESPE2018

Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

Abali Zehra Yavas , Yesil Gozde , Kirkgoz Tarik , Kaygusuz Sare Betul , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

hrp0089p3-p030 | Adrenals and HPA Axis P3 | ESPE2018

Delayed Diagnosis of a Patient with Antley-Bixler Syndrome

Kirkgoz Tarik , Bas Serpil , Yavas Abali Zehra , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Antley-Bixler syndrome Type 1 (ABS1) is a rare form of craniosynostosis characterized by multiple dysmorphic features, radio-humeral synostosis and urogenital abnormalities due to P450 oxidoreductase (POR) gene mutations. ABS is also associated with adrenal and gonadal failure which are sometimes underrecognized due to predominance of skeletal findings in various clinics. We report a female patient with very characteristic skeletal and facial features of AB...

hrp0089p2-p057 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Cause of Short Stature

Betul Kaygusuz Sare , Atay Zeynep , Kirkgoz Tarik , Guran Tulay , Bereket Abdullah , Turan Serap

Objectives: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions with immune dysfunction and neurologic involvement which is caused by mutations in ACP5 gene encoding tartrate resistant acid phosphatase 5. Here, we report a three year old girl presented with primary hypothyroidism, developmental delay and thrombocytopenia and diagnosed as SPENCDI.<p class="abstext"...

hrp0089p1-p254 | Thyroid P1 | ESPE2018

Isolated Congenital Central Hypothyroidism due to a Novel Mutation in TSH Beta Subunit Gene

Kirkgoz Tarik , Ozhan Bayram , Cetin Ozan , Kaygusuz Sare Betul , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

hrp0086p1-p756 | Pituitary and Neuroendocrinology P1 | ESPE2016

β-hCG from an Occult Source Causing Peripheral Precocious Puberty: Identification of the Tumour 6 Years After Presentation

Ekberzade Azad , Abali Saygin , Atay Zeynep , Bas Serpil , Gurbanov Ziya , Turan Serap , Guran Tulay , Bereket Abdullah

Background: β-hCG secreting germ-cell tumors (β-hCG-ST) are rare causes of Peripheral precocious puberty (PPP) in boys and usually located in intracranial region. Liver, retroperitoneum, testis and mediastinal cavity are the other localizations reflecting embryonic germ cell sites.Objective and hypotheses: We present a patient with PPP due to elevated β-hCG levels, but extensive efforts to find the source of elevated β-hCG was unrevea...

hrp0082p2-d2-336 | Diabetes (1) | ESPE2014

GAD Antibody Positivity is Associated with Higher Prevalence of Autoimmune Thyroiditis in Children with Type 1 Diabetes Mellitus

Abali Saygin , Celik Enes , Haliloglu Belma , Bas Serpil , Atay Zeynep , Turan Serap , Bereket Abdullah

Background: The prevalence of autoimmune thyroid disease is higher in children with type 1 diabetes mellitus (T1DM).Objective and hypotheses: The aim of this study is to compare the frequency of autoimmune thyroiditis in children with T1DM according to the presence of diabetes autoantibodies.Method: This study included 533 (49% female) children with T1DM based on hospital records from a single center. Frequency of glutamic acid dec...

hrp0082p2-d3-358 | Diabetes (2) | ESPE2014

Is There a Change in the Presentation of Childhood Type-1 Diabetes Mellitus in the Last 15 Years? Data from a Tertiary Care Center in Turkey

Abali Saygin , Celik Enes , Haliloglu Belma , Bas Serpil , Atay Zeynep , Turan Serap , Bereket Abdullah

Objective and hypotheses: To answer the question of whether the age of diabetes onset is shifting to younger ages and whether the rate of DKA at presentation has changed over the 15 years in children with T1DM.Method: Patients with T1DM from a single center for Pediatric Endocrinology and Diabetes in Turkey since 1999 were included. In a period of 15 years, 517 patients (249 females) were divided into three groups due to the year of diabetes diagnosed (g...