hrp0089p2-p386 | Thyroid P2 | ESPE2018

Triac Treatment Response to Thyroid Hormone Resistantance

Cinaz Peyami , Uğurlu Aylin Kılınc , Doğer Esra , Akbaş Emine Demet , Bideci Aysun , Camurdan Orhun

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

hrp0089p3-p366 | Thyroid P3 | ESPE2018

Clinical Features in Childhood Graves’ Disease

Kılınc Uğurlu Aylin , Doğer Esra , Demet Akbaş Emine , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

Introduction: Hyperthyroidism is a disorder of the thyroid function in childhood that causes symptoms such as low school performance, headache, hyperactivity, palpitation, systolic hypertension, heat intolerance, diarrhea, weight loss inspite of tremendous appetite and tremor. Hyperthyroidism is very rare in childhood. Graves’ disease is responsible for 84% of pediatric cases and is the most common cause.Method: The demographic characteristics, refe...

hrp0094fc5.6 | Sex Development and Gender Incongruence | ESPE2021

Investigation of The Molecular Genetic Causes Of Non-Syndromic Premature Ovarian Failure By Next Generation Sequence Analysis

Er Eren , Aşıkovalı Semih , Ozışık Hatice , Gokşen Damla , Onay Huseyin , Saygılı Fusun , Darcan Şukran , Ozen Samim ,

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

hrp0094p2-141 | Diabetes and insulin | ESPE2021

Glycated Hemoglobin Variability and Microvascular Complications in Patients with Type 1 Diabetes Mellitus

Er Eren , Ata Aysun , Evin Ferda , Atik Altınok Yasemin , Demir Gunay , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

hrp0097rfc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Molecular genetic diagnosis in children with Idiopathic Short Stature: Single Center Experience

Arslan Emrullah , Ece Solmaz Aslı , Avci Enise , Gul Balkı Hanife , Ozalp Kızılay Deniz , Jalilova Arzu , Er Eren , Goksen Damla , Ozen Samim , Darcan Sukran

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...

hrp0098p1-103 | Thyroid 1 | ESPE2024

The Relationship Between Antiepileptic Drug Use and Central and Peripheral Thyroid Hormone Sensitivity

Ali Oktay Mehmet , Tuğçe Tunca Küçükali Elif , Döğer Esra , Arhan Ebru , Demir Ercan , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: There is a complex and multifaceted relationship between antiepileptic drugs (AEDs) and the neuroendocrine system. Thyroid hormone (TH) sensitivity reflects thyroid homeostasis more comprehensively than serum hormone levels. It is clear whether TH sensitivity is associated with the use of AEDs. In this study, the evaluation of thyroid hormone sensitivity is aimed in euthyroid cases treated with antiepileptic drug therapy. In this study, the evalu...

hrp0098p2-107 | Fat, Metabolism and Obesity | ESPE2024

Xq27.3-q28 Duplication Containing FMR1 Gene: Case Presentation and Literature Review of Familial X-linked Hypogonadism, Gynecomastia, Short Stature, Intellectual Disability and Obesity Syndrome

Ali Oktay Mehmet , Tuğçe Tunca Küçükali Elif , Kayhan Gülsüm , Döğer Esra , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Syndromic obesities are characterized by malformations, dysmorphic features, and/or neurodevelopmental disorders. This paper reports the clinical characterization of a duplication showing familial transmission in the Xq27.3q28 region containing the FMR1 gene, presenting symptoms such as obesity, hypogonadism, gynecomastia, short stature, and intellectual disability.Case Presentation: A 17-year-old male pati...

hrp0098p2-179 | Growth and Syndromes | ESPE2024

An Uncommon Cause of Short Stature: 18q Deletion

Tuğçe Tunca Küçükali Elif , Ali Oktay Mehmet , Kayhan Gülsüm , Döğer Esra , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 18q deletion is one of the rare causes of short stature, characterized by intellectual disability, short stature, hypotonia, hearing loss, and foot deformities. Patients with this condition are also found to have an increased susceptibility to autoimmune diseases, which can lead to associated endocrinopathies. Here, we present a case diagnosed with 18q deletion and followed in our clinic due to short stature.Case:</...

hrp0098p2-253 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A Rarely Detected Variant in 46,XX Disorders of Sex Development: Recurrent p.Arg92Trp Variant in NR5A1

Ali Oktay Mehmet , Akın Agah , Döğer Esra , Kayhan Gülsüm , Eşme Kocaman Gizem , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

hrp0098p3-139 | GH and IGFs | ESPE2024

Growth Hormone Therapy in Congenital Tufting Enteropathy: A Case Report and Literature Review

Ali Oktay Mehmet , Orhun Çamurdan Mahmut , Eğritaş Gürkan Ödül , Alan Tehçi Başak , Döğer Esra , Bideci Aysun

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.Case Presentation: A 13-year-old girl with...