ESPE Abstracts

Background: Pituitary gigantism is an extremely rare disorder characterised by GH excess that occurs before fusion of the epiphyseal growth plates.Case summary: A 13 years 6 month old Chinese boy presented to the paediatric endocrine outpatient clinic with tall stature. He was noted by his parents to have a continued growth spurt since 9 years old, and he required new shoes and clothes every school term. He had no headaches or visual disturbances. There ...

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams p...

Introduction: Hypophosphatasia is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. However, there is variable presentation from asymptomatic to severe presentation.Case: Seven-Year-old boy presented at age of 2 weeks with excessive crying. On evaluation he was found to have low Alkaline Phosphatase (ALP) level. The parents are consanguineous with negative ...

Background: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. The enzyme is important in the breakdown of medium chain fats into acetyl-CoA to produce ketones, alternative energy source when glucose hepatic glycogen stores become depleted during prolonged fasting. In MCADD, during periods of fasting/ acute illness, there are insufficient ketones to compensate for the glucose energy deficit, ...

Introduction: Hypopituitarism leads to one or more pituitary hormones deficiency. Hypopituitarism can be congenital or acquired. The incidence of congenital hypopituitarism is between 1 in 4000 and 1in 10 000 live births. Children with congenital hypopituitarism may present with hypoglycemia, hyponatremia, shock, micro phallus in males, and later present with growth failure. It can be due to congenital or acquired causes. Adamantinomatous type craniopharingiom...

Background: Children and adolescents who have a gender identity that does not correlate with their assigned gender (based upon genital anatomy and chromosomes) are described as Gender-Dysphoric/Gender-Incongruent Persons (GD/gender incongruence) based on the ICD-11 classification of the World Health Organization.Objective: The case of a young teenager with Gender Dysphoria Disorder.Case presentation: A boy, aged 13 and 4/12 years, ...

Background: Wolcott-Rallison syndrome is a rare autosomal recessive condition. It is characterized by neonatal or early-onset, non-autoimmune insulin-dependent diabetes, spondyloepiphyseal dysplasia, renal or hepatic failure and growth retardation.Objective: We are reporting a novel homozygous pathogenic mutation in the EIF2AK3 c.1277T>A p. (Leu426*) in a Pakistani child who presented with neonatal diabetes, ...

Background: Small amount of methanol is produced in the intestine by hydrolysis of pectin from foods specially fruits and vegetables by intestinal microbiome and is absorbed and oxidized in the liver first to formaldehyde then formic acid and is excreted through feces.Case Report: A 4.3-year-old boy from first cousin consanguine parents was brought due to history of periodic sleepiness, seizure, diarrhea and vomiting and...

Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from a...

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...