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...

hrp0082p3-d1-769 | Fat Metabolism & Obesity | ESPE2014

The Importance of Weight for Height for Prediction of Metabolic Syndrome in Obese Children and Adolescents: Impact of Gender and Pubertal Status

Ozhan Bayram , Ersoy Betul , Kiremitci Seniha

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...

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...

hrp0089p2-p374 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Evaluation of Serum Anti-Mullerian Hormone and Androstenedione Levels in Adolescents Girls with Menstrual Irregularities

Ersoy Betul , Hanedan Nurcan , Hanedan Candost , Taneli Fatma

Aim: Oligo- or amenorrhea is one of the most important features of polycystic ovary syndrome (PCOS). Anti-Mullerien Hormone (AMH) plays an inhibitory role in follicular development and contributes to hyperandrogenism in PCOS. Our aim was to assess differences in serum AMH and androstenedione levels, and clinical characteristics between adolescent girls with and without oligomenorrhea.Participants and methods: Sixty-eight adolescent girls with oligomenorr...

hrp0086p2-p162 | Bone & Mineral Metabolism P2 | ESPE2016

Effects of Socioeconomic Status on Bone Mineral Density and Vitamin D Concentrations in Healthy Female College Students

Ersoy Betul , Kizilay Deniz Ozalp , Gumuser Gul , Taneli Fatma

Background: Skeletal mass approximately doubles at the end of adolescence. Socioeconomic Status (SES) and Vitamin D status may play a role in the development of bone mass.Objective and hypotheses: The aim of the present study is to examine the effects of different socioeconomic conditions on bone mineral density (BMD) and vitamin D status in healthy female college students and to determine the possible association between Vitamin D status and BMD.<p ...

hrp0082p3-d1-926 | Puberty and Neuroendocrinology | ESPE2014

The Significance of GnRH Stimulation Test, Leptin, and Pelvic Ultrasound Findings for Differentiating Idiopathic Central Precocious Puberty from Premature Telarche

Ersoy Betul , Yazici Pinar , Onur Ece , Ozkol Mine

Background: We aimed to investigate the differences of serum leptin, gonadotropin hormones levels on GnRH stimulation test, and pelvic ultrasound (US) findings between girls with idiopathic central precocious puberty (ICPP) and premature telarche (PT). Additionally, we aimed to determine correlations between leptin and other parameters.Method: Thirty-nine girls who had the breast budding before the age of 8 years and 19 healthy age-matched pre-pubertal g...

hrp0098p3-21 | Adrenals and HPA Axis | ESPE2024

Pitfalls of Diagnosing 11-OHD in Limited Settings

Betul Kaygusuz Sare , Bugrul Fuat , Cıtlı Rumeysa , Gokoglu Mustafa

Background: 11β-hydroxylase deficiency (11βOHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by biallelic mutations in the CYP11B1 gene. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females, and hypertension. The clinical manifestations sometimes similar to those of 21-hydroxylase deficiency, and can cause confusion especially in limited settings. We presented three patients initially diagnose...

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...

hrp0089p2-p057 | Bone, Growth Plate &amp; 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"...