hrp0098p3-237 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Case report: A unusual association: Lipoid CAH and Arnold Chiari I malformation!

Diab Dina , Elawwa Ahmed , Elsayed Shaymaa

A 6 year and 11 month -old girl of a Consanguineous parent. Her family history : has 2 sibling deaths in the neonatal period. her perinatal history :C/S, full term, NICU admission on the 5th day of birth due to vomiting and had generalized hyperpigmentation (external genitalia and skin with No atypical genitalia, her labs revealed hypoglycemia, hyponatremia and hyperkalemia, and her hormonal profile revealed sky high ACTH 2745 pg/ml (N.7.2-63.3 pg/ml), low cortisol 2 ug/dl (N....

hrp0084p2-254 | Diabetes | ESPE2015

Can We Rely on Finger Stick Haemoglobin A1c? Comparison of Levels Assayed by DCA 2000 with IFCC Reference Method in a Paediatric Cohort

Tornese Gianluca , Milic Nadia , Spetti Laura , Gembrini Daniela , Loganes Carmen , Pellegrin Maria Chiara , Radillo Lucia , Radillo Oriano , Faleschini Elena , Ventura Alessandro

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

hrp0095p1-260 | Diabetes and Insulin | ESPE2022

The association between Epilepsy and Diabetes mellitus diagnosed before 2 years of age

Abdelmeguid Yasmine , Mowafy Ehsan , Marzouk Iman , Elsayed Shaymaa

Introduction: Epilepsy or seizures are often observed in patients with diabetes mellitus (DM). Different types of seizures occur in approximately 25% of patients with DM. The exact cause remains undetermined. Moreover, a possible association between T1DM and epilepsy exists. Risk factors for epilepsy in T1DM include younger age at onset, recurrent hypoglycemia or DKA, and poor glycemic control.Aim of the work: The aim of...

hrp0095p1-383 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Study of Quality of Life among Children with Congenital Adrenal Hyperplasia at Alexandria University Children’s Hospital

Elsayed Shaymaa , Gharib Bayoumi , Beshir Hala , Saeed Marwa

Introduction: Quality of life (QoL) is a complex concept with multiple aspects as cognitive and emotional functioning; psychological well-being; general health; physical functioning; and social well-being and functioning. Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. Day-to-day care of a chronically ill child affects family finances and dynamics, as ...

hrp0092p1-413 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Assessment of the Function of Lower Urinary Tract Following Feminizing Genitoplasty in Females with Congenital Adrenal Hyperplasia

Elsayed Shaymaa , Wafa Ehsan , Badawy Haytham , Yousry Yousra

Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only "cosmetically accepted" genitalia but also normally functioning. The complications of feminizing geni...

hrp0092p2-183 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Prevalence of Celiac Disease (CD) in Children with Type 1 Diabetes Mellitus (T1D); Does CD Adversely Affect Linear Growth in these Children?

Alyafei Fawzia , Soliman Ashraf , Sabt Aml , Elsayed Nagwa

The prevalence of biopsy-proven CD in T1D in pediatric populations widely ranges between 2.6 in Finland to 16.4 in Algeria. Many patients with CD and T1D are either asymptomatic (silent CD) or present with only mild symptoms. CD children may be less likely to show overt growth failure but can have weight and height measures at a lower growth percentile and complain of nonspecific symptoms, including anorexia and lassitude.Aim; Patients and Methods:<p...

hrp0089p3-p087 | Diabetes &amp; Insulin P3 | ESPE2018

Prevalance of Fatty Liver in Patients with Type 1 Diabetes Mellitus Attending Diabetes Clinic at Alexandria University Children’s Hospital

Fawzy Dina , Elsayed Shaymaa , Adel Abdel-Moneim Mahmoud

Background: Type 1 diabetes mellitus (T1DM) - related hepatopathy is not uncommon and tends to be more prevalent among children with poor glycemic control. Recent studies suggest that fatty liver disease may be more common in T1DM than previously thought.Aim: The aim of this work was to determine the frequency of hepatopathy in patients with type 1 diabetes mellitus attended diabetes clinic at Alexandria university children’s hospital (AUCH) and it&...

hrp0089p3-p417 | Diabetes &amp; Insulin P3 | ESPE2018

Study of Children with Type 1 Diabetes Mellitus of Long Duration Attending Alexandria University Children’S Hospital

Fawzy Dina , Elsayed Shaymaa , Abd El-Moneim Mahmoud

Background: Type 1 diabetes mellitus (T1DM) is a complex metabolic disorder typically diagnosed in childhood and characterized by insufficient insulin production. Diabetic complications are still a major concern as they constitute the main cause of morbidity and mortality in diabetic patients despite the advances in T1DM treatment. Long-term complications of diabetes include retinopathy with potential loss of vision; nephropathy leading to renal failure; peripheral neuropathy ...

hrp0094p2-395 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Cognitive function and linear growth in Prednisone-treated children with salt-wasting congenital adrenal hyperplasia

Elsayed Shaymaa , Soliman Ashraf , Omar Tarek , Ibrahim Sandra , Elawwa Ahmed ,

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...