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...

hrp0097p1-412 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Juvenile Paget's Disease: Evaluation of Novel Mutation and Treatment Response

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

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...

hrp0095p1-11 | Adrenals and HPA Axis | ESPE2022

Low-dose ACTH Stimulation Test: Comparison of Cortisol Response at 30, 40, and 60 Minutes

Gurpinar Tosun Busra , Arikan Hazal , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

hrp0095p1-280 | Fat, Metabolism and Obesity | ESPE2022

A rare cause of monogenic obesity: Schaaf-Yang syndrome due to a novel MAGEL2 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

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...