ESPE Abstracts

Key words: hot nodule, pediatrics, papillary thyroid carcinoma A nodule over 1 centimeter observed in pediatrics need further evaluation. Not having ultrasound changes during monitoring does not mean being benign. Moreover, normal FNA does not rule out a malignancy and it is necessary to repeat the test every 3-6 months. The case was a 15-year-old girl with a 23 mm fixed nodule on ultrasound and normal FNA. She developed hyperthyroidism after two years; a hot ...

Background: Carbohydrate counting is an essential part of comprehensive diabetes management and is required for children and adolescents with type 1 diabetes mellitus (T1DM), according to available guidelines. However, there is no specific evidence-grading for carbohydrate counting. This review was done to determine the effectiveness of carbohydrate counting in improving glycaemic control among children and adolescents with T1DM as measured by glycated haemogl...

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: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

In adolescence, diagnosis of polycystic ovary syndrome (PCOS) is challenging because characteristics of normal puberty often overlap with signs and symptoms of PCOS. Anti-Müllerian hormone (AMH) is one of the important biomarkers suggested to confirm the diagnosis of PCOS and to manage the treatment process in adolescence. The aim of this study was to evaluate the diagnostic role of anti-müllerian hormone for PCOS in adolescent females, and to study its association t...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

Hypothyroidism is the most frequent thyroid abnormality in DS. It can be either congenital, with or acquired at any age after birth. It can be clinical or subclinical disorder. More evidence is required regarding the progressive development of thyroid dysfunction with age.Aim and Methods: We measured thyroid function (Free T4 and TSH) and Anti TPO level in 37 infants with DS at birth, during their first year and after ~ 2.5 years of...

There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down ...

Background: Subclinical hypothyroidism is the most common in DS. Thyroxin administration to improve growth early in life is still controversial.We measured linear growth (BMI, height SDS (HtSDS) and weight gain/day ) in 3 groups of infants and young children with Down syndrome (trisomy 21) and divided them retrospectively into 3 groups according to their thyroid function. Group 1 (n = 25) with normal FT4 and TSH, group 2 (n = 20)...