hrp0098p3-74 | Diabetes and Insulin | ESPE2024

Establishing the Saudi Pediatric & Youth Diabetes Registry (SPYDR): initial data and challenges

Al Dubayee Mohammed , Al Juraibah Fahad , Babiker Amir , Alfaraidi Haifa , Aldahash Raed , Attia Najya , Al Shaikh Adnan , Habeb Abdelhadi , Al Jabri Aida , Al Zaben Abdullah , Al Atawi Mohsen , Al Mutair Angham , Alamri Muhammed , Aldibasi Omer , Al Alwan Ibrahim , Alghnam Suliman

Introduction: The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. We report on the first data and the challenges we faced during SPYDR initiation.Methods: Patients were identified from the electronic medical records of the Saudi NGHA hospitals...

hrp0098p3-171 | Growth and Syndromes | ESPE2024

WGS confirms the diagnosis of MEN1 syndrome in a suspected pediatric MEN1 case from Qatar, a case report.

Al-Barazenji Tara , Mohammed Idris , Chirayath Shiga , Al-Shafai Mashael

Herein, we report the case of a 15-year-old Indian boy who initially presented for short stature and obesity. Based on in-depth clinical assessment, the pediatric endocrinology team conducted investigations along with genetic tests. Clinical investigations revealed parathyroid adenoma, pituitary macroadenoma (prolactinoma), and pancreatic neuroendocrine tumor adenoma. The phenotype was directing us towards the MEN syndromes, apart from polydactyly which is atypical for MEN syn...

hrp0095p2-74 | Diabetes and Insulin | ESPE2022

Knowledge and Confidence of Omani Paediatric Residents in Managing Diabetic Ketoacidosis (DKA); A Cross Sectional Survey

Al-Rawahi Maryam , Alsaffar Hussain

Background: Diabetic ketoacidosis is a common complication of Type 1 diabetes Mellitus (T1DM). Unfortunately, medical errors are not uncommon during management of DKA leading to significant morbidity and mortality. Junior doctors/residents are usually the clinicians who initiate the management of DKA. There are many studies conducted to assess the knowledge of junior doctors, residents, and medical students in management of DKA in many countries including Bahr...

hrp0089p2-p018 | Adrenals and HPA Axis P2 | ESPE2018

A Novel Mutation in the MC2R Gene in a Two-year-old Boy with Adrenal Insufficiency

Al-Khawaga Sara , Hussain Khalid

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

hrp0084p3-1164 | Puberty | ESPE2015

The Relationship between Xenoestrogens Exposure and Early Puberty among Young Females Living in Jeddah, Saudi Arabia

Alnwsany Nouf , Al-Agha Abdulmoein

Background: Xenoestrogens are artificial oestrogen compounds, found in our environment throughout various chemical products, and claimed to affect the process of early puberty among young females.Objective and hypotheses: To investigate the relationship between exposure to xenoestrogen products and early pubertal sex development.Method: Cross-sectional study conducted in Jeddah, Saudi Arabia in July 2014 (n=568), pubertal ...

hrp0084p3-1245 | Turner | ESPE2015

A Rare Variant of Turner Syndrome: First Clinical Report from Kuwait

Mohamed Kholoud , Al-Abdulrazzaq Dalia

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

hrp0094p2-140 | Diabetes and insulin | ESPE2021

HbA1c of T1DM Patients before and after Transition - Single Center Experience

Al Harthy Rand , Al Kindi Fatma , Al-Shidhani Azza , Alfutaisi Abdallah , Al Mamari Ali , Alyaarubi Saif , Alsaffar Hussain ,

Introduction: More than 1.1 million children and adolescents are living with Type 1 diabetes mellitus (T1DM) in 2019 worldwide1. Transition period is considered a crucial phase in management of T1DM, where movement of adolescents to adult health care is initiated. During this period, physical, psychological and behavioral changes may make this interval becoming more challenging by which diabetes management can be affected. HbA1c worsening was report...

hrp0097p1-350 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Onset of puberty and timing of menarche in Saudi schoolgirls: Riyadh Puberty Study II

Al Alwan Ibrahim , Babiker Amir , Alfaraidi Haifa , Al Juraibah Fahad , Al Dubayee Mohamed , Al Malki Samia , Tamimi Waleed

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

hrp0097p2-30 | Diabetes and Insulin | ESPE2023

Long-term follow-up for the first neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation who were successfully transferred from insulin to oral sulfonylurea in the Arabian Gulf.

Almutair Angham , Al Oraini Sultan

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to...

hrp0092p2-71 | Diabetes and Insulin | ESPE2019

The Effect of Different Forms of Maternal Dysglycemia on the occurrence of Neonatal Hypoglycemia in babies admitted to NICU.

TAWFIK SOLIMAN ASHRAF , Salama Husam , Al Rifai Hilal , Al-Obaidly Sawsan , Al Qubasi Mai , Olukade Tawa

Abstract: We report the effect of different forms of dysglycemia on the occurrence of neonatal hypoglycemia in a large cohort of pregnant women studied as a part of a PEARL-Peristat Study, funded by QNRF- Doha-QatarMethods: Out of 12255 pregnant women screened during 2016-2017, 3027 women were identified with gestational diabetes (GDM) (WHO criteria) and 233 were diabetic (DM) before pregnancy. All dysglycemic women were...