ESPE Abstracts

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

MODY (Maturity Onset Diabetes of Youth), mitochondrial diabetes, Wolfram syndrome, neonatal diabetes and the group of special syndromes seen due to gene defects that cause insulin resistance are called monogenic diabetes. MODY is an autosomal dominant form of diabetes with a relatively young onset. It constitutes 2-5% of all diabetes cases. The presence of more than one affected family member in extended families has facilitated studies of this type of diabetes. In monogenic d...

Background: Although adequate hydration is recommended for healthy nutrition, the link between less water consumption and obesity is not exactly known. It was demonstrated that less hydrated adults had a higher body mass index (BMI). Data in children are rather limited. Our aim was to compare the hydration status between obese and non-obese children.Subjects and methods: Children aged between 7 and 18 years who had a BMI over 2 standard deviation score (...

Background: Idiopathic premature adrenarche (PA) in girls refers to the presence of androgenic signs before the age of 8 years in the absence of thelarche. Increased adrenal androgens lead to changes in body composition and transient growth acceleration without effecting final height. Although the association between PA and some components of the metabolic syndrome is well known, total body fat and body composition analysis are not widely studied.Subject...

Background: We aimed to investigate the differences of serum leptin, gonadotropin hormones levels on GnRH stimulation test, and pelvic ultrasound (US) findings between girls with idiopathic central precocious puberty (ICPP) and premature telarche (PT). Additionally, we aimed to determine correlations between leptin and other parameters.Method: Thirty-nine girls who had the breast budding before the age of 8 years and 19 healthy age-matched pre-pubertal g...

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair before 8 years in girls and 9 years in boys.Objective and hypotheses: We aimed to evaluate the anthropometric measures, hormonal values of children with PA at time of diagnosis, distinguishing the patients with late onset congenital adrenal hyperplasia and to analyse the components of insulin resistance, obesity, hyperlipidemia, metabolic syndrome, menstrual ...

Introduction: Congenital adrenal hyperplasia is an autosomal recessive disorder characterized by enzyme deficiencies in the adrenal steroidogenesis pathway. The most common type is 21 hydroxylase deficiency and is divided into two groups as classical and nonclassical type. 75% of the classical type of cases is salt-losing type, and cortisol and aldosterone deficiency symptoms occur in patients. Female cases presented with ambiguus genitalia due to hyperand...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children with autoimmune thyroid disease. Clinically, goiter, tachycardia, restlessness, craniosinostosis, hyperactivity, growth retardation, diarrhea may occur.Graves' disease is rare under 4 years of age. Treatment options include antithyroid therapy, surgery, and radioiodine therapy. The most commonly used antithyroid therapy is methimazole and has serious side effects such...