hrp0098p2-257 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Clinical and Laboratory Characteristics of Children with Congenital Adrenal Hyperplasia (CAH): A Comparative Study of Hypertensive and Normotensive Patients

Elsayed Shayma , Tawfeek Soliman Ashraf , Elawwa Ahmed , Alaa ElDin Thabet Mohamed , Marzouk Iman , Elneely Dalia , Diab Dina

Background: Hypertension is a recognized complication in children with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, treated with glucocorticoids and mineralocorticoids. This study aims to compare the clinical and laboratory characteristics of children with CAH who developed hypertension with those who maintained normal blood pressure (BP) over a treatment course.Methods: This retrospective cohor...

hrp0098p2-258 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Impact of Precocious Puberty on Clinical Management in Pediatric Patients with Congenital Adrenal Hyperplasia

Elsayed Shayma , Taweek Soliman Ashraf , Elawwa Ahmed , Alaa Eldin Thabet Mohamed , Marzouk Iman , Elneely Dalia , Diab Dina

Background: Congenital Adrenal Hyperplasia (CAH) is a complex endocrine condition with varying presentations, one of which includes precocious puberty. Understanding how precocious puberty affects clinical parameters in pediatric CAH patients is crucial for optimizing management strategies.Methods: This study conducted a comprehensive statistical analysis comparing pediatric CAH patients with precocious puberty (n</e...

hrp0098p3-235 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Comparative Analysis of Clinical Presentation and Hormonal Profiles in Egyptian Pediatric Patients with 11-Beta-Hydroxylase and 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Diab Dina , Alaa El-Din Thabet Mohammed , Mohamed Marzouq Iman , Elneely Dalia , Tawfeek Soliman Ashraf , Elawwa Ahmed , Elsayed Shaymaa

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...

hrp0098p3-236 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Comparative Analysis of Growth and Hormonal Parameters in Pediatric Patients with 11-Beta-Hydroxylase Deficiency (11OHD) vs. 21-Hydroxylase Deficiency (21OHD)

Diab Dina , Alaa El-Din Thabet Mohammed , Marzouq Iman , Elneely Dalia , Tawfeeq Soliman Ashraf , Elawwa Ahmed , Elsayed Shymaa

Background: Congenital Adrenal Hyperplasia (CAH) is characterized by various enzyme deficiencies, notably 11-Beta-Hydroxylase Deficiency (11OHD) and 21-Hydroxylase Deficiency (21OHD), each affecting growth and hormonal levels differently. This study aim ed to compare the anthropometric and hormonal profiles of pediatric patients affected by these two conditions.Methods: The clinical records of pediatric patients diagnose...

hrp0089p2-p119 | Diabetes &amp; Insulin P2 | ESPE2018

Parental Knowledge and Attitudes Toward Diabetes Mellitus Type 1: A Cross Sectional Study

Albanyan Norah , Albanyan Abdulhameed , Adel Ahmad , Zaiton Mohammed

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by absolute insulin deficiency, itÂ’s usually diagnosed in children and adolescents. According to a recent report from the International Diabetes Federation, Saudi Arabia has 14,900 children with T1DM. The incidence is increasing over the last years with prevalence rates of 48 per 100,000 in the eastern region. Parents play an important role in the management of T1DM in children. As a result, ...

hrp0086rfc9.4 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Prevalence of Monogenic Diabetes in the Lithuanian Pediatric and Young Adult Population

Schwitzgebel Valerie , Dirlewanger Mirjam , Klee Philippe , Santoni Federico , Blouin Jean-Louis , Razanskaite-Virbickiene Dovile , Danyte Evalda , Dobrovolskiene Rimante , Marciulionyte Dalia , Stankute Ingrida , Verkauskiene Rasa

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

hrp0082p2-d1-515 | Pituitary | ESPE2014

High Prevalence of PROP1 Gene Defects Among Patients with Multiple Pituitary Hormone Deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...

hrp0098p2-308 | Late Breaking | ESPE2024

A Novel homozygous founder mutation in UFSP2 is associated with a distinct form of skeletal dysplasia in Emiratis

Mustafa Manal , Thalange Nandu , Rabea Fatma , Mughal Zulficar , Abou Tayoun Ahmad

Spondyloepimetaphyseal dysplasias (SEMDs), predominantly associated with disproportionate short stature, comprise a heterogeneous group of autosomal-dominant, autosomal-recessive, and X-linked recessive skeletal dysplasias caused by pathogenic variants in several genes. Here we characterize a distinct form of skeletal dysplasia in 4 individuals from 3 unrelated Emirati families. Through whole exome sequencing, we identify a novel homozygous missense variant (c.1376A>C; p.As...

hrp0098p2-366 | Late Breaking | ESPE2024

The genomic landscape of children with short stature presenting to a tertiary hospital in UAE.

Jacob Anju , Gharaibeh Sarah , Jain Ruchi , Taylor Alan , Shenbagam Shruti , AbuTayoun Ahmad , Elabiary Mohamed , Thalange Nandu

Introduction: Short stature (SS) is one of the most common reasons for referral to a pediatric endocrinologist. SS is defined as a condition in which an individual's height is below the 3rd percentile for age and sex. SS may be caused by hormonal (eg. growth hormone deficiency), environmental (eg. intrauterine growth retardation) and genetic disorders (eg. Turner syndrome, Noonan syndrome). The evaluation of children presenting with SS comprises detailed ...