hrp0084p2-493 | Hypo | ESPE2015

Long Acting Somatostatin Analogue (Lanreotide) Therapy in Congenital Hyperinsulinism – Pharmacokinetics and Long-Term Follow-Up Study

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Marti Carles Morte , Lezcano Carles Celma , Santacreu Emma Bascompta , Amin Rakesh , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

hrp0095p2-16 | Adrenals and HPA Axis | ESPE2022

Adrenocortical tumor: a rare tumor in children. Report of 2 infants presented with precocious pubarche and rapid growth.

Almutlaq Mohammad

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...

hrp0098fc14.5 | Fetal and Neonatal Endocrinology | ESPE2024

A novel 94bp deletion in the SLC16A1 promoter causes fasting and exercise-induced hyperinsulinaemic hypoglycaemia

Hopkins Jasmin , Mannisto Jonna , Hopkinson Jessica , Wakeling Matthew , Costigan Colm , Crowley Rachel , Gibney James , Faiz Muhamad Muhammad , Neylon Orla , O'Shea Donal , Okiro Julie , Palmer Elizabeth , Swann Niall , Houghton Jayne , Otonkoski Timo , Flanagan Sarah

Background: In 2007, non-coding variants in the promoter of SLC16A1, a beta-cell disallowed gene, were reported as a novel genetic cause of exercise-induced hyperinsulinism (HI). In this study, three different promoter variants were identified in 13 affected individuals from three families. It was proposed that these variants caused MCT1, which is encoded by SLC16A1, to be inappropriately expressed in the pancreatic beta cells resulting in insulin secretion in...

hrp0095rfc8.4 | Diabetes and Insulin | ESPE2022

Developing a regional Southeast Asia diabetes healthcare professional network and webinars programme initiative during the pandemic

Sze May Ng , Lek Ngee , Sahakitrungruang Ngee , Pheng Chan Siew P , Yong Lai Mee , Yazid Jalaludin Muhammad , Thao Bui Muhammad , Nyi Nyi Soe , Ficheroulle Anne-Charlotte , Toomey Charles

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...

hrp0095lb2 | Late Breaking | ESPE2022

Aromatase deficiency due to novel CYP19A1 mutation: A rare cause of maternal virilization and atypical genitalia.

Aftab Sommayya , Shaheen Tahir , Manzoor Jaida , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

hrp0086p1-p381 | Gonads & DSD P1 | ESPE2016

Psychological Outcomes and Quality of Life of Patients with Non-CAH DSD

Selveindran Nalini M , Jalaludin Muhammad Yazid , Zakaria Syed Zulkifli Syed , Rasat Rahmah

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

hrp0094p1-17 | Bone A | ESPE2021

Clinical Spectrum of Hypomagnesemia type 1 (HOMG1) due to Novel TRPM6 mutations

Aftab Sommayya , Anjum Muhammad Nadeem , Saeed Anjum , Shaheen Tahir , Cheema Huma Arshad ,

Background: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 mutation, leading to decrease intestinal magnesium absorption.Objective: To determine the clinical spectrum of HOMG1 due to TRPM6 mutation at a tertiary centre.Case Series: Seven patients (all male) from six different families of hypomagnesemia type 1 due to homozygous TRPM6 mut...

hrp0094p2-45 | Adrenals and HPA Axis | ESPE2021

A Rare Coexistence of two autosomal recessive conditions: Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (CYP21A2 mutation) with Beta Thalassemia Major

Aslam Aniqa , Aftab Sommayya , Shaheen Tahir , Anjum Muhammad Nadeem , Saeed Anjum , Cheema Huma Arshad ,

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

hrp0094p2-164 | Diabetes and insulin | ESPE2021

The Impact of COVID 19 Pandemic on Type 1 Diabetes Mellitus: An experience of a Tertiary Care Hospital in a resource limited country

Ayub Aqeela , Ijaz Sadaf , Qudrat Syeda Mamoona , Rani Tanzeela , Raziq Abdur , Ali Muhammad , Butt Taeed Ahmed ,

Background and Objectives: Managing type 1 diabetes (TIDM) in covid pandemic is a real challenge in resource limited countries like Pakistan. This study was aimed to determine the effects of covid 19 in managing type 1 diabetes in resource limited countries.Methods: Cross-sectional observational study, included all type 1 diabetes patients who were already enrolled in endocrine and diabetes clinic and were on regular fol...

hrp0097p1-48 | Diabetes and Insulin | ESPE2023

Changing Diabetes in Children Indonesia: Public-private partnership to improve healthcare access for children and adolescents with type 1 diabetes mellitus

B. Pulungan Aman , Amalia Gassani , Septira Salsabila , Vathania Nabila , Faizi Muhammad , Fadiana Ghaisani

Background: In 2022, 1.52 million children and adolescents worldwide were diagnosed with type 1 diabetes mellitus (T1DM). During COVID-19, diabetic ketoacidosis (DKA) episodes in newly-onset and established cases increased in 44.2% and 30.1% of paediatric diabetes centres, respectively. In 2017-2019, 1,249 children were diagnosed with T1DM in Indonesia, and 70% were diagnosed with DKA at diagnosis in 2017. Changing Diabetes in Children (CDiC) is a public-priva...