hrp0094p2-39 | Adrenals and HPA Axis | ESPE2021

Clinical spectrum of congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency; A case series

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

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

hrp0092p2-143 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Two Siblings with Tyrosinaemia Type 1 and Transient Hyperinsulinaemic Hypoglycaemia

Sotiridou Ellada , Aftab Sommayya , Dastamani Antonia , Doodson Louise , Batzios Spyros , Shah Pratik

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

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...

hrp0094p1-70 | Diabetes B | ESPE2021

Change in HbA1C predicts future abnormal Oral Glucose Tolerance Tests in children and adolescents with Cystic Fibrosis.

Aftab Sommayya , Ghauri Rooha Ijaz , Drew Samantha , Meek Hannah , Peters Catherine , Amin Rakesh ,

Background: Oral glucose tolerance test (OGTT) is the screening test of choice for Cystic Fibrosis Related Diabetes (CFRD). HbA1C is considered unreliable in diagnosing CFRD because of increased cell turn over in children and adolescents with Cystic Fibrosis (CF).Objective: To determine the validity of HbA1C as a predictive tool for future abnormal OGTT in CF.Material & Methods: Data were colle...

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...

hrp0094p2-142 | Diabetes and insulin | ESPE2021

Affective response of newly diagnosed Type1 diabetes parents: An experience of a developing country.

Ayub Aqeela , Shamsher Maria , Aftab Sommayya , Parveen Asmat , Shahid Gulbin , Butt Taeed Ahmed ,

Background & objectives: An important aspect of managing type 1 diabetes is to identify and address the apprehensions of patients and parents of newly diagnosed type 1 diabetes. Understanding parental difficulties in managing type1 diabetes and promptly dealing them will surely affect the short and long-term outcome in children. The aim of this study was to determine the affective response of parents after the diagnosis of type 1 diabetes in a developing c...

hrp0092rfc9.5 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Spectrum of Neuro-Developmental Disorders in Children with Congenital Hyperinsulinism Due to Activating Mutations in GLUD1

Aftab Sommayya , Gubaeva Diliara , Dastamani Antonia , Sotiridou Ellada , Gilbert Clare , Houghton Jayne , Flanagan Sarah E. , Melikyan Maria , Shah Pratik

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

hrp0089p2-p185 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Nifedipine Therapy in Hyperinsulinaemic Hypoglycaemia Due to Mutations in the PMM2 Gene Improves Fast Tolerance, Stabilises Blood Glucose Profile, and Enables Rationalisation of Treatments for Glycaemic Control and Hypertension: The First Reported Trial in 3 Patients in a Tertiary Centre

Katugampola Harshini , Guemes Maria , Aftab Sommayya , Malhotra Neha , Gilbert Clare , Morgan Kate , Bockenhauer Detlef , Dattani Mehul , Shah Pratik

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...

hrp0094p1-133 | Growth Hormone and IGFs A | ESPE2021

Efficacy and safety profile of recombinant insulin like growth factor 1 (rh IGF1) therapy: A long term follow up study at a single tertiary centre.

Aftab Sommayya , Prentice Philippa , Katugampola Harshini , Tollerfield Sally , Atterbury Abigail , Shah Pratik , Peters Catherine , Gevers Evelien , Dattani Mehul ,

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...