ESPE Abstracts

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Aims: Non-alcoholic fatty liver disease (NAFLD) is the asymptomatic involvement of liver due to fatty infiltration of hepatocytes seen commonly in obese children. Elevated serum aminotransferase level serves as a surrogate marker of NAFLD. The recommended ALT cut-offs for screening for NAFLD in obese boys and girls are 22 and 25U/L respectively. We determined the prevalence of NAFLD amongst obese children in our population based on Liver Ultrasonography(USG), ...

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...

Objective: To estimate the prevalence of Celiac disease (CD) and autoimmune thyroid dysfunction (AITD) in children with Type 1 Diabetes.Study Design: The analysis included 177 (83 girls, 94 boys) children and adolescents with a diagnosis of Type 1 Diabetes who were followed up for a duration of more than 2years at Sir Ganga Ram Hospital, a tertiary care hospital in Northern India.Results</s...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...