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...

hrp0086p1-p559 | Perinatal Endocrinology P1 | ESPE2016

Recognition of the Fetal and Perinatal Features of the Prader-Willi Syndrome is Required to Avoid Delay in Diagnosis

Cizmecioglu Filiz Mine , Jones Jeremy Huw , Paterson Wendy Forsyth , Kherra Sakina , Kourime Mariam , Shaikh M Guftar , Donaldson Malcolm

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

hrp0084p3-608 | Adrenals | ESPE2015

A Prospective Evaluation of Anthropometric and Metabolic Profile Premature Adrenarche Patients

Karabulut Gulcan Seymen , Imal Murat , Cizmecioglu Filiz Mine , Hatun Sukru

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair before 8 years in girls and 9 years in boys.Objective and hypotheses: We aimed to evaluate the anthropometric measures, hormonal values of children with PA at time of diagnosis, distinguishing the patients with late onset congenital adrenal hyperplasia and to analyse the components of insulin resistance, obesity, hyperlipidemia, metabolic syndrome, menstrual ...

hrp0098p2-242 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Single Centre Experience in the Management of Childhood Prolactinoma

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

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

hrp0092fc9.5 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Iodine Status of Pregnant Women and Their Newborns in the UK – the MABY Study

Bouga Maira , Redway Martha , Çizmecioglu Filiz Mine , Fletcher Suzanne , Sharif Sahar , H. Jones Jeremy , Donaldson Malcolm , Combet Emilie

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

hrp0082p3-d1-928 | Puberty and Neuroendocrinology | ESPE2014

Characteristics of Children Treated with Leuprolide Acetate

Karabulut Gulcan Seymen , Yuksel Aysegul , Ozsu Elif , Mutlu Gul Yesiltepe , Cizmecioglu Filiz Mine , Hatun Sukru

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

hrp0084p2-548 | Puberty | ESPE2015

Sensitivity of Measured Parental Height and Target Range in the Diagnosis of Turner Syndrome

Ouarezki Yasmine , Cizmecioglu Filiz , Mansour Chourouk , Jones Jeremy , Gault Emma Jane , Mason Avril , Donaldson Malcolm

Background: Girls with Turner syndrome (TS) are inappropriately short for their parentsÂ’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

hrp0094p1-79 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Concurrent hyperinsulinism and hypopituitarism in a 22 month old child due to a novel FOXA2 mutation

Kilci Fatih , Hurmuzlu Kozler Selen , Jones Jeremy , Ceylaner Serdar , Mine Cizmecioğlu Jones Filiz ,

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

hrp0094p2-474 | Thyroid | ESPE2021

Recurrent fractures in a child with Graves' disease

Kilci Fatih , Jones Jeremy , Çizmecioğlu Jones Filiz Mine

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...

hrp0094p2-165 | Diabetes and insulin | ESPE2021

Co-existence of new onset diabetic ketoacidosis with severe hypertriglyceridemia in a 9 year old girl.

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Cizmecioğlu Jones Filiz Mine ,

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...