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...

hrp0086p1-p126 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Intercurrent Illness on Calcium Homeostasis and Hypoparathyroidism Management

Chinoy Amish , Skae Mars , Babiker Amir , Mughal Zulf , Padidela Raja

Background: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Objective/hypotheses/method/results: Case series Case 1: Two-month...

hrp0082p2-d3-490 | Endocrine Oncology | ESPE2014

Genetic Susceptibility in Autoimmune Polyglandular Syndrome Type 3 Variant

Babiker Amir , Gadi Iman Al , Jurayyan Nasir Al , Mohamed Sarar , Al Otaibi Hessah , Hussain Khalid

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with GravesÂ’ disease (GD) who developed T1D after 6 years of the diagnos...

hrp0084p3-802 | DSD | ESPE2015

Gender Reassignment in Muslim Communities

Babiker Amir , Ali Amer Al , Batti Turki Al , Jurayyan Nasir Al , Drop Stenvert L

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

hrp0097p1-196 | Thyroid | ESPE2023

Clinical Pattern and management attitudes of Paediatric Graves' Disease in Saudi Arabia, A 10-Year Experience

Mulla Jaazeel , Al Shaikh Adnan , Aldubayee Mohammad , AlNoaim Khalid , Hakim S , Babiker Amir

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

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 ...

hrp0097p2-260 | Late Breaking | ESPE2023

Pseudohypoaldosteronism: a challenging diagnosis with management pitfalls

Babiker Amir , Aldabas Haya , Alanazi Shahad , Alahmadi Bashayer , Al Atawi Mohsen , Aljuraibah Fahad , Almutair Angham

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

hrp0097p2-291 | Late Breaking | ESPE2023

Early Endocrinopathy in Childhood Cancer Survivors in a Specialized Center in Riyadh

Sultan Alorini , Aldakhil Sadeem , AlKhanbashi Omar , Aljuraibah Fahad , Ahmed Naveed , Essa Mohammad , Babiker Amir

Introduction: Childhood cancer survivors (CCSs) has increased risk of endocrine complications, of which, abnormal growth and hypothyroidism are the commonest. The risk of developing endocrinopathy will vary according to different host factors including type of tumour and factors related to treatment modalities including chemotherapy, radiotherapy, surgery and bone marrow transplantation. we aim to assess the prevalence and associated risk factors of early deve...

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...

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...