hrp0082p3-d2-686 | Bone (1) | ESPE2014

I.V. Zolendronic Acid: Experience of Treatment of Children with Osteogenesis Imperfecta in Indonesia

Pulungan A , Zacharin M , Armstrong K , Soesanti F , Pramesti D L

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...

hrp0089p2-p342 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

Cuccaro Rieko Tadokoro , Thankamony Ajay , Hendriks A Emile J , Alvi Sabah , Armstrong Ruth , Bruty Jonathan , A Hughes Ieuan , L Acerini Carlo

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

hrp0097p1-8 | Adrenals and HPA Axis | ESPE2023

Congenital Adrenal Hyperplasia (CAH): Situation and Possibility to Develop a Newborn Screening in Indonesia -- An Exploratory Study

Pulungan Aman , Armstrong Kate , Fadiana Ghaisani , Idaayen Fatima , Waladhiyaputri Vahira , Patricia Chandra Angelina , Fadia Ratnasari Amajida , Arnetta Puteri Helena , Utari Agustini

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professiona...

hrp0097p1-9 | Adrenals and HPA Axis | ESPE2023

The @MATES4Kids Movement: Reducing Preventable Mortality Associated with Congenital Adrenal Hyperplasia (CAH) by 30% by 2030

Armstrong Kate , Auste Carmen , Calzada León Raúl , Chanoine Jean-Pierre , L. Claahsen Hedi , E. Craig Maria , Deeb Asma , Yazid Jalaludin Muhammad , Matos Dina , Mayrdorfer-Muhr Marika , Meschede Johanna , Pulungan Aman , N. Seneviratne Sumudu , E.J. Stafford Diane , Duran Ventura Paola , K. Boddu Sirisha , Atapattu Navoda , Raza Jamal , Ibrahim Mohsina , Musa Salwa

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...