ESPE Abstracts

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...

Background: Diabetes insipidus (DI) represents a rare but critical condition in neonatology, particularly affecting extremely low birth weight (ELBW) and preterm infants. It arises from deficiencies in arginine vasopressin within the hypothalamic-neurohypophyseal system or defects in vasopressin receptors at the kidney level. Recognizing DI in neonates proves challenging due to subtle symptoms. Early diagnosis and prompt management of water and electrolyte imb...

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...

Background and Objective: Autoimmune Addison’s disease is generally regarded as an irreversible progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a patient diagnosed with clinically overt Addison’s disease who showed recovery of adrenal functions over time.Case presentation: A 10.5-year-old girl was diagnosed with celiac disease ...

Objective: to determine the association of various genetic and environmental risk factors with T1DMStudy design: a case control study Place and duration of study: this study was conducted at University of Child Health Sciences, the Children’s hospital, Lahore from mm/yy to mm/yyMethodology: The total study population consisted of two groups, that is, cases and controls. Cases...

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...

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...

Background: Thiamine-responsive megaloblastic anemia (TRMA) syndrome, is an autosomal recessive disorder marked by sensorineural hearing loss, diabetes mellitus, and megaloblastic anemia caused by mutations in the SLC19A2 gene.Objective: We are reporting five patients with TRMA syndrome in the Pakistani population.Case Summary: We report five male patients, from two differ...

Background: Turner syndrome (TS) is the most common genetic disorder. Genotypically, they can be classified depending upon karyotype like monosomy, abnormal X chromosome and mosaics. Short stature and premature ovarian failure are the most consistent features of turner syndrome. However, the presentation of other clinical features is quite varied.Objective: To determine correlation between Genotype & Phenotype in Tur...

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...