hrp0098p2-172 | Growth and Syndromes | ESPE2024

European Achondroplasia Forum: Are Current Outcome Measures for Achondroplasia Still Fit for Purpose in the Era of Medical Management?

Irving Melita , AlSayed Moeenaldeen , Baujat Genevieve , Ben-Omran Tawfeg , Boero Silvio , Cormier-Daire Valérie , Fauroux Brigitte , Fredwall Svein , Guillen-Navarro Encarna , Kunkel Phillip , Lampe Christian , Leiva-Gea Antonio , Maghnie Mohamad , Mohnike Klaus , Mortier Geert , Pejin Zagorka , Sessa Marco , Sousa Sérgio

Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, curr...

hrp0092p1-113 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Delayed Puberty in A 16-Year-Old Male Associated with Gamma Aminobutyric Acid Capsule Supplements

Blackburn James , Senniappan Senthil , Ahmed Syed Harris

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...

hrp0092p1-126 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Longitudinal Changes in External Masculinisation Scores in Boys with XY Disorder of Sex Development (DSD)

Alimussina Malika , Kraria Loubna , Ahmed S Faisal

Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.Methods: Ob...

hrp0092p3-74 | Diabetes and Insulin | ESPE2019

Does Metformin Therapy Prolong the Honeymoon Period in Obese Adolescent with Hybrid Diabetes?

Hamed Noor , Elawwa Ahmed , Soliman Ashraf

Introduction: Hybrid diabetes is a challenging form od diabetes that need to be more studied. We describe a case of hybrid diabetes with a prolonged honeymoon due to the use of metformin.Case: Our patient is a 10 year old female patient who was diagnosed as type 2 DM on September 2017 at the age of 8 years. She was obese with BMI = 29.8 Kg/ m^2 with marked acanthosis nigricans. She had a patch of vitiligo on the face...

hrp0092p3-138 | GH and IGFs | ESPE2019

Factors Affecting Growth Response to Growth Hormone (GH) Therapy in Children with Short Stature and Normal GH and IGF-I Secretion and no Bone Age Delay

Elawwa Ahmed , Soliman Ashraf , Elalaily Rania

Background: There are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment of short children with idiopathic short stature (ISS.Patients and Methods: Our study included 20 prepubertal (Tanner 1) or peri-pubertal (Tanner 2) children with short stature (HtSDS < -2) and/or HtSDS > 1SD below their mid parental height SD (MPHtSDS), slow Growth velocity( <...

hrp0086p2-p324 | Diabetes P2 | ESPE2016

Glargine versus Detemir Insulin During the Honeymoon Phase in a Child with Type1 Diabetes Mellitus

Alyafie Fawzia , Soliman Ashraf , Elawwa Ahmed

Background: The honeymoon period of type 1 diabetes mellitus (DM1) is characterized by reduced insulin requirements to <0.5 Units/kg per day while maintaining good glycaemic control.Case study: Seven years old boy who was diagnosed with type 1 diabetes mellitus presented with history of polyuria, polydipsia and weight loss for 3 weeks duration. His random Blood glucose=408 mg/dl with initial HBA1C 12.7%. Family history was unremarkable for diabetes ...

hrp0086p2-p865 | Syndromes: Mechanisms and Management P2 | ESPE2016

Postnatal Growth and Factors Modifying it in Very Low Birth Weight Preterms (PT) with Bronchopulmonary Dysplasia (BPD)

Abushahin Ahmed , Alnaimi Amal , Soliman Ashraf

Background: Different severities of bronchopulmonary dysplasia (BPD) may adversely affect postnatal growth of small preterm infants (PT).Objective: To measure postnatal growth data for 69 (39 F, 30 M) preterms with BPD.Method: We studied growth parameters of 69 PT with BPD for 16±3 months postnatally. 40 had mild, 20 had moderate and 9 had severe BPD.Results: 96% of infants were appropriate for gestation...

hrp0082p2-d1-260 | Adrenals &amp; HP Axis | ESPE2014

Genotype–phenotype Non-Concordance: How Prevalent is it? How to Explain it

Khattab Ahmed , Yau Mabel , New Maria

Background: The rate of direct genotype–phenotype correlation in 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) is <50%. We report two cases of genotype/phenotype non-concordance, which has been explained by gene sequencing.Family 1: in a non-consanguineous family of Irish, German, and Italian ethnicity there are five children. Two of the boys have hormonal evidence of CAH owing to 21-hydroxylase deficiency. The third boy has no ...

hrp0082p2-d2-581 | Sex Development (1) | ESPE2014

Rare Disease Registries: Perception of Parents and Young People

Jayasena Arundathi , Muscarella Miriam , Ahmed Faisal

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

hrp0084p1-76 | Fat | ESPE2015

Endothelial Progenitor Cells in Obese Non-Diabetic Children and Adolescents: Relations to Some Metabolic Parameters, Echocardiographic Parameters and Tissue Doppler Imaging

Ahmed Alaa , Youssef Omneya , Thabet Botheina

Background: Endothelial progenitor cells (EPCs) are involved in the regeneration of the endothelial lining following blood vessel injury. The reduction in the number of EPCs was postulated to be associated with the initiation and progression of cardiovascular disease.Objective and hypotheses: This study aimed at exploration of the number of EPCs in obese non-diabetic children and adolescents and their relation to the fasting lipid levels, fasting glucose...