hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

hrp0097rfc6.2 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Psychosocial Evaluation of Girls with Rapidly Progressive Puberty Presenting with Early Menarche

Yüksek Acinikli Kübra , Besci Ozge , Akın Kağızmanlı Gözde , Gündoğan Nazan , Unutmaz Güldal , Berkay Esen Ahmet , Alşen Güney Sevay , Korcan Demir Korcan , Böber Ece , Abacı Ayhan

Key words: early puberty, mood change, GnRH analogueIntroduction-Aim: In cases with early puberty, neuroendocrine, physical, and psychological changes are considered to result in several mood disorders. The aim of this research was to assess the mental problems of pubertal girls with rapidly progressive puberty (RPP) with menarche before the 10 years of age. To the best of our knowledge, there is no similar prospective c...

hrp0097p1-34 | Diabetes and Insulin | ESPE2023

Evaluation of Mitochondrial Bioenergetic Function in Mitochondrial and Type 1 Diabetes

Gurpinar Tosun Busra , Francisco Annelise , D. C. Navarro Claudia , Seven Menevse Tuba , Polat Hamza , Ozturk Hismi Burcu , Kahveci Ahmet , Turan Serap , Haliloglu Belma , Mine Yilmaz Ayse , Karademir Yilmaz Betul , Bereket Abdullah , F. Castilho Roger , Guran Tulay

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

hrp0097p1-315 | Growth and Syndromes | ESPE2023

Which Method is More Effective in Predicting Adult Height in Pubertal Girls Treated with Gonadotropin-Releasing Hormone Agonist?

Akın Kağızmanlı Gözde , Deveci Sevim Reyhan , Besci Özge , Yüksek Acinikli Kübra , Hazal Buran Ayşen , Mert Erbaş İbrahim , Böber Ece , Demir Korcan , Anık Ahmet , Abacı Ayhan

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

hrp0097p1-383 | Thyroid | ESPE2023

Clinical and molecular characteristics of 147 patients with primary congenital hypothyroidism: A single-center experience

Yavaş Abalı Zehra , Alavanda Ceren , Eltan Mehmet , Arslan Ateş Esra , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt İlknur , Keleştemur Elif , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

hrp0098p1-177 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Androgen Receptor Cag Repeat Polymorphism Might Be A Possible Cause of Familial Constitutional Delay in Growth and Puberty

Akın Kağızmanlı Gözde , Deveci Sevim Reyhan , Manyas Hayrullah , Paketçi Ahu , Demir Korcan , Böber Ece , Çatlı Gönül , Anık Ahmet , Abacı Ayhan

Background: Being able to induce puberty through a short course of low-dose testosterone therapy in boys with constitutional delay of growth and puberty (CDGP) indicates a crucial interaction between testosterone and androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at the onset of puberty. Previous studies have indicated an inverse association between the CAG repeat length and the transactivation function o...

hrp0098p1-238 | Fat, Metabolism and Obesity 4 | ESPE2024

Predictive Value of Impulse Oscillometry and Hepatic Fat Content for Obstructive Sleep Apnea Syndrome in Obese Children and Adolescents

Öztürk Sercan , Oğan Akyıldız Utku , Gök Mustafa , Eryılmaz Aylin , Erge Duygu , Ünüvar Tolga , Deveci Sevim Reyhan , Güneş Sebla , Anık Ahmet

Objective: This study aims to assess the potential predictive value of impulse oscillometry (IOS) and hepatic fat content as an alternative diagnostic tools to polysomnography (PSG) for obstructive sleep apnea syndrome (OSAS) in obese children and adolescents.Method: The study included obese children with a body mass index (BMI) above the 95th percentile. OSAS was assessed via PSG in obese children. Hypopnea was defined ...

hrp0098p2-73 | Diabetes and Insulin | ESPE2024

Neonatal Diabetes Due to Insulin Gene Mutation

Liv Çanga Betül , Karagöz Kıymet , Şeyma Eken Emine , Korkmaz Vural Meltem , Yağmur Baş Ahmet , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Kolkıran Abdulkerim , Sezer Abdullah , Savaş Erdeve Şenay

Introduction: Neonatal diabetes mellitus (NDM) is a rare monogenic disease associated with genetic defects in pancreatic beta cell number and/or function. It can be divided into two forms: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM is usually diagnosed within the first month after birth and usually regresses before the age of one year, but may reappear during adolescence. In contrast, PNDM is a lifelong di...

hrp0098p2-282 | Thyroid | ESPE2024

Thyroid hormone profile and autoimmunity in down syndrome

Günay Aylin , Helvacıoğlu Didem , Yavaş Abalı Zehra , Gürpınar Tosun Büşra , Kahveci Ahmet , Kurt İlknur , Keleştemur Elif , Tuğba Canbaz Aylin , Haliloğlu Belma , Güran Tülay , Bereket Abdullah , Turan Serap

Down syndrome (DS) is the most common chromosomal disorder in live births (1/1500-1/700) and caused by a meiotic nondisjunction (trisomy 21). DS is associated with an increased risk of thyroid disorders in addition to other systemic problems. In this study, we aim ed to investigate the thyroid hormone profiles and associated autoimmune diseases in DS.Material and Method: DS patients, aged 0-18 years, who were followed for thyroid problem...

hrp0098p2-285 | Thyroid | ESPE2024

Levothyroxine poisoning in children is usually benign: A multi-center experience from Turkey

Şen Küçük Kübra , Demir Şule , Deveci Sevim Reyhan , Akgül Fatma , Yalçın Gülşen , Eser Öznur , Bal Alkan , Ergün Elif , Öztürk Sercan , Anık Ahmet

Objective: The objective of this study was to investigate the clinical presentations, laboratory findings, treatment modalities, follow-up strategies employed for children with levothyroxine (LT4) poisoning.Materials-Methods: The study encompassed patients admitted to the respective centers between 2010-2023, who fulfilled the predefined study criteria. Findings were presented as percentages (%), median values with inter...