ESPE Abstracts

Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.Study Design: Descriptive study. Place and Duration of Study: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 20...

Congenital hypothyroidism (CH) and hyperinsulinemic hypoglycemia represent two distinct yet interrelated metabolic disorders in pediatric endocrinology. We report a comprehensive case study of a 14-day-old female neonate presenting with persistent hypoglycemia since birth, despite initial management with thyroxine for suspected CH. The neonate exhibited classical clinical features of CH, including lethargy, puffy face, and umbilical hernia, alongside a pertinent family history...

Monogenic obesity is a rare yet clinically significant condition characterized by excessive weight gain stemming from genetic mutations affecting appetite regulation and energy balance. Here, this case series explores the clinical presentation and genetic underpinnings of monogenic obesity in a familial cluster, shedding light on Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) & letin deficiency associated with the genetic variants in the BBS1 and LEPR genes. The index patient...

Keywords: Anti-GAD antibodies, Anti-thyroid antibodies, celiac disease, HbA1c, type-1 diabetes mellitus. We analyze the association of anti-GAD positive type-1 diabetes mellitus (T1DM) with anti-thyroid antibodies and celiac disease. We analyzed children of both gender and aged between 1 to 18 years having known T1DM. Blood sample of each child was taken in sterilized container and sent to institutional laboratory for biochemical investigations. In a total of ...

Congenital hyperinsulinism is a rare genetic cause of symptomatic hypoglycemia carrying risk of significant morbidity and mortality if left undiagnosed and untreated. It is characterized by unregulated insulin secretion from pancreatic beta cells leading to hypoglycemia. It can be broadly classified into diffuse and focal types. Till date, at least nine different types of genes are identified among which ABCC8 and KCNJ11 are the most common genetic mutations. Genetic mutation ...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the cl...

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...