hrp0097p1-33 | Diabetes and Insulin | ESPE2023

Health-Related Quality of Life in Children and Adolescents with Type1 Diabetes Mellitus

Alkhouli Laila , Al Remeithi Sareea , Al Jeneibi Sara

Background: HRQoL has been acknowledged as an essential health outcome measure. Studies have shown that enhancing the HRQoL and well-being of children with diabetes is as important as metabolic control in preventing secondary morbidity. Objectives: to evaluate HRQoL of children and adolescents with T1D managed at our institute and investigate factors (patient and disease-related) associated with HQoL scores.Methods: a cr...

hrp0097p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Treatment of Children with Central Precocious Puberty (CPP) with Gonadotropin-Releasing Hormone agonist (GnRHa): Evaluation of The Effectiveness of Treatment and Recovery of Gonadal Function

Mohamed Duaa , Al Remeithi Sareea , Al Jneibi Sara , Elyazori Yara

Background: GnRHa is the treatment for CPP, it arrests puberty progression, slows bone age (BA) maturation, and increases pubertal height. In the last decades, the use of GnRHa has demonstrated its favorable effects on linear growth, although the net height gain and predictors of long-term outcomes remains debated. Concerns raised on thepotential negative effects of treatment on weight and reproductive function.Methods: ...

hrp0097p2-259 | Late Breaking | ESPE2023

Saudi experience of long term treatment for Laron syndrome with IGF-1 injection over 22 years, cohort study

Binladen Amal , Al-ashwal Abdullah , Al-Fattani Areej

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

hrp0098p3-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Genetic Rickets: Can it be that early?

Alharbi Tahani , Al Atawi Mohsen , Al Juraibah Fahad , Babiker Amir

Background: The primary cause of calciopenic rickets is often vitamin D deficiency (VDD) or restricted calcium intake. It can also be caused by inactivation or resistance to vitamin D due to genetic mutations. Vitamin D genetic causes can present as early as 6 months of age in previous reports. We present here a 2-month-old baby with biochemical and radiological features highly suggestive of a metabolic bone disease likely genetic rickets. However, the baby al...

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...