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...

hrp0086p2-p397 | Gonads & DSD P2 | ESPE2016

A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

Alikasifoglu Ayfer , Buyukyilmaz Gonul , Nazli Gonc E. , Alev Ozon Z. , Kandemir Nurgun , Dundar Munis , Polat Seher , Pektas Emine , Dursun Ali , Sivri Serap , Tokatli Aysegul , Coskun Turgay

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

hrp0084p3-1218 | Thyroid | ESPE2015

Effects of Subclinically Hypothyroidism on Haemorheological Parameters in Paediatric Population

Balci Yasemin Isik , Agladioglu Sebahat Yilmaz , Agladioglu Kadir , Toprak Emine Kilic , Erkek Ozgen Kilic , Ozhan Bayram , Polat Aziz , Kucukatay Melek Bor

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

hrp0094p2-478 | Thyroid | ESPE2021

A child with anti-thyroid arthritis syndrome

Kilci Fatih , Sönmez Hafize Emine , Jones Jeremy , Közler Selen Hürmüzlü , Çizmecioğlu Jones Filiz Mine

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

hrp0094p2-25 | Adrenals and HPA Axis | ESPE2021

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Kurnaz Erdal , Baykan Emine Kartal , Turkyılmaz Ayberk , Yaralı Oğuzhan , Yavaş Abalı Zehra , Turan Serap , Bereket Abdullah , Cayır Atilla , Guran Tulay ,

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...

hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

hrp0094p2-121 | Diabetes and insulin | ESPE2021

The effect of glycemic variability on DNA damage in pediatric patients with type 1 Diabetes Mellitus

Gokmen Gokhan , Altincik Ayca , Kılıc Erkek Ozgen , Tunc Ata Melek , Kılınc Toprak Emine , Kucukatay Vural , Ozhan Bayram ,

Increased glycemic variability is an important risk factor in terms of complications independent of HbA1c. The aim of this study was; to investigate the relationship between continuous glucose monitoring system (CGMS) indices and clinical data, to investigate DNA damage in patients with diabetes and to evaluate the effect of glycemic variability on DNA damage. Fifty patients with T1DM, aged under 18 years old, who were followed up at least one year in Pediatric Endocrinology D...

hrp0098rfc8.2 | Adrenals and HPA Axis 2 | ESPE2024

A Novel Peroxisomal Cause of Primary Adrenal İnsufficiency: Pseudo-neonatal Adrenoleukodystrophy Due to ACOX1 Mutations.

Helvacioglu Didem , Tugba Canbaz Aylin , Tekmenuray-Unal Aysel , Yapici Özge , Genç Emine , Gurpinar Tosun Busra , Ozturk Hismi Burcu , Guran Tulay

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...

hrp0098p2-10 | Adrenals and HPA Axis | ESPE2024

Early Diagnosis of Adrenoleukodystrophy in Two Siblings

Karagöz Kıymet , Şeyma Eken Emine , Sadiye Karadeniz Cansu , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...

hrp0098p2-206 | Multisystem Endocrine Disorders | ESPE2024

A Case of Pediatric PTEN Hamartoma Tumor Syndrome Presenting with a Breast Mass

Bora Ulukapi Hasan , Seyma Eken Emine , Isakoca Mehmet , Ucan Berna , Ozbay Hosnut Ferda , Dere Gunal Yasemin , Keskin Meliksah , Asli Bala Keziban , Kurnaz Erdal , Yesil Sule , Savas Erdeve Senay

Introduction: Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene involved in the PI3K/AKT/mTOR pathway. Mutations in the PTEN gene are known to cause PTEN Hamartoma Tumor Syndrome (PHTS), an autosomal dominant disorder. This syndrome is characterized by proliferative lesions in various tissues, including the thyroid gland, breast, gastrointestinal system, kidneys, and endometrium. We present a patient who initially presented with a breast mass an...