hrp0095p2-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Long QT revealing hypoparathyroidism in a B thalassemic major

Khensal Sabrina , Bouhelassa Amina , Benmohammed Karima , Nouri Nassim

Introduction: Beta thalassemia major (BTM), a hereditary haemoglobinopathy due to a deficiency in the synthesis of beta-globin, leads in the homozygous state to severe anemia requiring regular transfusions associated with chelator treatment. The endocrine complications encountered in BTM, secondary to martial overload by direct damage to the glandular parenchyma, continue to be observed in our consultations, although early and well-managed chelation can reduce...

hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

hrp0092p1-306 | Adrenals and HPA Axis (2) | ESPE2019

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Cilsaat Gizem , Toksoy Guven , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Uyguner Oya , Basaran Seher , Altinoglu Umut , Darendeliler Feyza

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

hrp0094p2-69 | Bone, growth plate and mineral metabolism | ESPE2021

Evaluation of Admission Characteristics, Treatment and Follow-up Findings of Children with Primary Osteoporosis

Kizilcan Cetin Sirmen , Siklar Zeynep , Aycan Zehra , Ozsu Elif , Ceran Aysegul , Senyazar Gizem , Karaca Seda Erisen , Berberoglu Merih ,

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

hrp0094p2-89 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical Profile of Parathyroid Adenoma in Children and Adolescents: A single-center experience

Kizilcan Cetin Sirmen , Siklar Zeynep , Ozsu Elif , Aycan Zehra , Ceran Aysegul , Karaca Seda Erisen , Senyazar Gizem , Berberoglu Merih ,

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...

hrp0094p2-383 | Pituitary, neuroendocrinology and puberty | ESPE2021

Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

OKUR Iclal , ARI Hasan , Cetinkaya Semra , Emine Derinkuyu Betul , Caglar Gizem , Gokce Cinar Hasibe , Yesil Sule , Savas-Erdeve Senay ,

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...

hrp0097p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density in children and adolescents with Cystic Fibrosis: a follow-up study.

Tamer Gizem , G.M. Arets Hubertus , K. van der Ent Cornelis , M. van Santen Hanneke , J. van der Kamp Hetty

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

hrp0098p3-22 | Adrenals and HPA Axis | ESPE2024

X-linked adrenoleukodystrophy: a case series

Tugce Aygun Sibel , Hurmuzlu Kozler Selen , Boke Kocer Gizem , Huw Jones Jeremy , Kocyigit Esra , Gurpinar Gozde , Mine Cizmecioglu Jones Filiz

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...

hrp0098p3-141 | GH and IGFs | ESPE2024

A rare cause of short stature: ellis-van creveld syndrome

Esme Kocaman Gizem , Ozdemir Nilgun , Tugce Tunca Kucukali Elif , Kayhan Gulsum , Doger Esra , Orhun Camurdan Mahmut , Bideci Aysun

Introduction: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.Case: An 11 year and 5 m...

hrp0092p1-258 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Novel Pubertal References for Girls Using Ultrasound to Stage Breast Development. The Bergen Growth Study 2

Bruserud Ingvid S. , Roelants Mathieu , Oehme Ninnie HB , Madsen André , Eide Geir Egil , Rosendahl Karen , Júlíusson Pétur B.

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...