hrp0094p2-61 | Bone, growth plate and mineral metabolism | ESPE2021

Experience of 6-months of burosumab therapy in five siblings with X-linked hypophosphataemic rickets in the State of Kuwait

Shammari Sameer Al , Enezi Ayed Al , Sameer George , Fawzy Nagla ,

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

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...

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...