ESPE Abstracts

Background: Alström Syndrome (ALMS), occurred due to mutations in ALMS1 gene, is a rare otosomal ressesive disorder. Seven hundred cases have been reported so far. Main clinical findings are rod con dystrofy, neurosensorial deafness, obesity and type 2 diabetes. Hypogonadism, hypothyroidism, growth hormone deficiency, hipertryglyceridemia, cognitive dysfunction, cardiomyopathy, renal, hepatic and pulmoner disorders could also be seen.Objective and h...

Background: Multiple organ failure syndrome (MOFS) can occur in diabetic ketoacidosis (DKA).Objective and hypotheses: A 6-year old female child had DKA and MOFS.Method: We presented a case study of a child with DKA and MOFS.Results: A 6-year old female child had 1-week history of excessive thirst, polyuria, polydipsia, and weight loss. One day before coming to Vietnam National Hospital of Pediatrics (NHP), sh...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

Background: It is critically important to correctly diagnose hyperinsulinemic hypoglycemia (HH) to avoid neurological sequelae. However, the diagnosis is not always easy in the critical care setting since some patients present with atypical biochemical profiles.Objective and hypotheses: To delineate the range of biochemical data of HH patients at hypoglycemia to help establish a better diagnostic criteria.Method: Biochemical data (...

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...