hrp0086p1-p125 | Bone & Mineral Metabolism P1 | ESPE2016

Spectrum of the Genetic Defects in Hypophosphatemic Rickets in A Group of Turkish Children

Acar Sezer , Al-Rijjal Roua A. , Demir Korcan , Kattan Walaa E. , Catli Gonul , BinEssa Huda , Abaci Ayhan , Dundar Bumin , Zou Minjing , Kavukcu Salih , Meyer Brian , Bober Ece , Shi Yufei

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

hrp0082p3-d3-752 | Diabetes (4) | ESPE2014

The Psychological Impact of Diabetes on Glycaemic Control in Affected Saudi Children at Different Developmental Age Groups

Babiker Amir , El Rashid Mona , Al Jurayyan Nasir , Druce Maralyn , Bahebri Aban , El Ahmedi Mohamed , Errasoul Ahmed H , Gasim Hala , Coppack Simon

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...

hrp0094fc6.4 | Bone and Mineral Metabolism | ESPE2021

Use of Aids, Assistive Devices and Adaptations (AADAs) by Individuals Aged <25 Years with Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Results from a Global Natural History Study (NHS)

Hsiao Edward C. , Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

hrp0094p1-51 | Bone B | ESPE2021

A Global Natural History Study (NHS) of Fibrodysplasia Ossificans Progressiva (FOP): Normal Long Bone Growth and Abnormalities in Younger Patients over 36 Months

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , Cunto Carmen De , Hsiao Edward C. , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

hrp0094p2-278 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of growth hormone therapy on serum concentrations of IGF-1 in patients with Turner syndrome: High IGF-1 concentrations despite optimal dose?

Karakilic Ozturan Esin , Karagoz Nurinisa , Ceylaner Serdar , Pinar Ozturk Ayse , Derya Kardelen Al Aslı , Yavas Abali Zehra , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza ,

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

hrp0097p1-126 | Growth and Syndromes | ESPE2023

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

Bayrak Demirel Özge , Karakılıç Özturan Esin , Derya Kardelen Al Aslı , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

hrp0097p2-79 | Adrenals and HPA Axis | ESPE2023

Final Adult Height in Saudi patients with Congenital Adrenal Hyperplasia

Al Alwan Ibrahim , Shafaay Edi , Aldriweesh Mohammed , Aljahdali Ghadeer , Alomar Abdulrahman , Alharbi Khulood , Aldalaan Haneen , Alenazi Ahmed , Alsagheir Afaf , S. Alangari Abdulaziz , Babiker Amir

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

hrp0098fc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Defect in C-terminal alpha-amidation during Kisspeptin synthesis: a new mechanism of hypogonadotropic hypogonadism

Hung NGuyen Viet , Al Amir Ahmad Issam , Ben Rhaiem Ines , Maugenre Svetlana , Leprince Jérome , Carel Jeaan-Claude , de Roux Nicolas

The synthesis of many peptides involves several post-translational steps which converts precursors into bioactive peptide. One of these steps results in the α-amidation of the C-terminal from a glycine through a bifunctional enzyme called the peptidylglycine α-amidating monooxygenase (PAM). Although the physiological role of Kisspeptin (KP) in the control of GnRH secretion is well known, the exact molecular form of the bioactive hypothalamic KP remains elusive. By ...

hrp0098t12 | Top 20 Posters | ESPE2024

Investigating the Effects of Familial Mediterranean Fever on Growth and Puberty: Does the Duration of Puberty Change?

Bayrak Demirel Ozge , Duygu Arik Selen , Kandemir Tugce , Akgun Ozlem , Derya Kardelen Al Asli , Yildiz Melek , Poyrazoglu Sukran , Aktay Ayaz Nuray , Bas Firdevs , Darendeliler Feyza

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

hrp0098p1-35 | Diabetes and Insulin 2 | ESPE2024

Diabetes Mellitus in Woodhouse -Sakati syndrome

Amin Rasha , Khalifa Amel , Petrovski Goran , Mohammed Elwaseila , Dauleh Hajar , Haris Basma , Chirayath Shiga , Mohamadsalih Ghassan , Al Bureshad Khalid , Ibrahim Marwa , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Diabetes mellitus is one endocrine manifestation but there are no comprehensive data on the epidemiology, clinical features, underlying mechanisms, and management, particularly within the Qatari population.Methods: This retrospective study wa...