hrp0095p2-306 | Late Breaking | ESPE2022

Clinical Spectrum of Associated Autoimmune Conditions in Children with Type 1 Diabetes Mellitus (TIDM) in Developing Countries

Aftab Sommayya , Asif Rameen

Background and Aim: Type 1 diabetes mellitus (TIDM) is not an inherited condition and 80% of children with T1DM have no family history of diabetes. It is associated with other autoimmune conditions with hypothyroid being the most common followed by celiac disease. However, most of this data is from developed countries. The aim of this study is to determine the incidence of different autoimmune conditions in T1DM and to look for the clinical pattern of autoimmu...

hrp0095p2-305 | Late Breaking | ESPE2022

Poor Infant Feeding Practices and Type 1 Diabetes Mellitus: Any Correlation?

Aftab Sommayya , Asif Rameen , Afzal Javeriya

Background: Type 1 diabetes mellitus (T1DM) is a chronic immune mediated condition where autoimmunity against pancreatic beta cell is triggered by many environmental factors in genetically susceptible person. Association of poor infant feeding practices as potential risk factor for developing T1DM is still debatable.Objective: The aim of this study is to look for association of infant feeding malpractices with type 1 dia...

hrp0095lb6 | Late Breaking | ESPE2022

A case series of two adolescent diabetic siblings due to novel mutation in CFAP126

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

Background: CFAP126 gene does play a role in the regulation of pancreatic beta cell. Literature suggests that CFAP126 was significantly downregulated in human islet cells of pre-diabetic as compared to non-diabetic and further downregulated in type 2 diabetics. However, to date CFAP126 has not been reported to cause clinical diabetes. We are reporting 2 diabetic siblings, with strong family history of type 2 diabetes on maternal side...

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...

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...

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...