hrp0097p2-85 | Growth and Syndromes | ESPE2023

Challenges in treating delayed puberty in a girl with Marfan syndrome

Alharbi Mashael , Babiker Amir , Al Zaben1 Abdullah , Al Atawi Mohsen , Al Alwan Ibrahim , Al Dubayee Mohamed

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

hrp0097p2-280 | Late Breaking | ESPE2023

Prevalence of Childhood Obesity Among Children Visited Paediatric Outpatient Clinics in Oman - A Single Centre Experience

Al-Lawati Osama , Al-Musharafi Ahmed , Al-Ghafri Shahad , Al-Harthi Hamza , Alsaffar Hussain

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...

hrp0089p3-p324 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Challenges in Managing 46, XY Partial Gonadal Dysgenesis in Saudi Arabia

Babiker Amir , Bin Afif Yassir , Dubayee Mohammed Al , Juraibah Fahad Al , Atawi Mohsen Al , Mutair Angham Al , Alwan Ibrahim Al

Background: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...

hrp0086p2-p860 | Syndromes: Mechanisms and Management P2 | ESPE2016

Referral Pattern of Children with Short Stature to a Pediatric Endocrine Clinic in Kuwait

Al-Abdulrazzaq Dalia , Al-Taiar Abdulla , Hassan Kholoud , Al-Twari Basma , Al-Osaimi Abdulaziz , Al-Busairi Iman

Background: Short stature is a prominent complaint for which children are referred to pediatric endocrinologists. Data on short stature is lacking in the Arab states in the gulf region despite the fact that treatment is easily accessible. The study aimed to describe the referral pattern, baseline characteristics, and etiological profile of children referred with short stature to a pediatric endocrine clinic in Kuwait.Method: This is a cross-sectional ret...

hrp0084p3-824 | Endocrine Oncology | ESPE2015

Suprasellar Brain Tumours Related Endocrinopathies

Babiker Amir , Edrees Amani , Gadi Iman Al , Issa Sharefah Al , Malik Safdar , Watedi Sharief Al , Aeyadhy Ayman Al , Hassan Saeed , Otaibi Hessah Al , Jurayyan Nasir Al

Background: Brain tumours constitute the second most common tumours in childhood after leukaemia. Infra-tentorial tumours are more common. Most of the supra-tentorial tumours (STT) are in the supra or para-sellar regions. Malignant tumours are rare. The survival is 50–90% with appropriate management. However, STT and/or treatment may lead to traumatic brain injury (TBI) with endocrinopathic sequel.Methods: This is a retrospective hospital based stud...

hrp0094p2-11 | Adrenals and HPA Axis | ESPE2021

Rare Presentation of Adrenal Insufficiency in an Infant with Holocarboxylase Synthetase Deficiency

Al-Farsi Aws , Qureshi Tabinda Naz , Ullah Irfan , Al-Rahbi Najwa , Abdwani Raghad Al , Al-Musalhi Buthaina , Al-Thihl Khalid , Al-Shidhani Azza , Alsaffar Hussain ,

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

hrp0095p2-115 | Fat, Metabolism and Obesity | ESPE2022

Is it Hyponatremia or Pseudohyponatremia? Management of Low Serum Sodium in Patient with Acute Pancreatitis Secondary to Hypertriglyceridemia

Alsaffar Hussain , Al-Mamari Moza , Al-Mamari Salim , AlShidhani Azza

Background: Hyponatremia is an electrolyte disorder, that may lead to severe complications such as rhabdomyolysis, seizures, coma, and death. Clinicians do take hyponatremia seriously. However sometimes clinicians should be careful in interpreting the low laboratory sodium level as it does not necessarily reflect the actual natremic status especially when the patient is euvolemic and having normal serum osmolality, for which pseudohyponatremia should be consid...

hrp0092p2-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Experience of Burosumab Therapy in Four Children with X-linked Hypophosphataemia in Saudi Arabia

Al-Juraibah Fahad , Al-Dubayee Mohammed , Babiker Amir

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

hrp0089p2-p008 | Adrenals and HPA Axis P2 | ESPE2018

Testing Antiandrogens and Aromatase Inhibitors to Achieve Normal Growth in Children with Classical Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

Al Balwi Rana , Al Madani Wedad , Saad Rania , Ferwana Mazen

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease in which adrenal synthesis of glucocorticoids and mineralocorticoids is impaired and steroid biosynthesis is directed toward the formation of excessive androgens. Persistently high androgens will accelerate bone maturation and reduce final adult height.Objectives: To assess the efficacy of androgen antagonist Flutamide and aromatase inhibitor Tastolact...

hrp0084p1-92 | Growth | ESPE2015

Chronic Effects of Bisphenol A Administration on Growth Hormone Activity

AL-Masroori Mohammed , Hebais Mohammed , AL-Araimi Amnah , Zadjali Fahad

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...