ESPE Abstracts

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

Background: Introital stenosis is the main complication of vaginoplasty in females with Congenital Adrenal Hyperplasia (CAH) which could result from poor estrogenization of vaginal tissue during puberty.Objective and hypotheses: To evaluate the maturation of vaginal mucosa depending on the degree of compensation.Method: 19 adolescent girls with CAH (salt-wasting (SW) – 9, simple virilizing (SV) – 10; 15.9 years (14.4, 16....

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

Introduction: Siberia traditionally belonged to iodine-deficient regions. Cessation of iodine prevention in the 1990-s promoted the increase of iodine deficiency disorders (IDD) in Siberia. For iodine prophylaxis now is used iodized salt, and iodine preparations.The Aim: To estimate the iodine deficiency, the prevalence of IDD and the effectiveness of iodine prophylaxis in the North of Krasnoyarsk territory.<p class=...

Introduction: There are the inconsistent data about a role cellular and humoral immunity in pathogenesis of type 1 diabetes mellitus.The aim: The aim of this research was to study features of the immune status and of the activity of metabolic enzymes in lymphocytes of blood in children with type 1 diabetes.Methods: Cellular and humoral immunity parameters were studied in 94 patient...

Background: young children with type 1 diabetes mellitus (DM1) have a tendency to recurrent hypoglycemia. Increased sensitivity to insulin in young diabetes patients may be associated with features of secretion of catecholamine, particularly adrenaline.The aim: to explore the basal levels of catecholamine (epinephrine, norepinephrine, and dopamine) in serum of young children with type 1 diabetes mellitus to identify of p...

Background: Mauriac's syndrome (MS) may occur in patients with poor controlled type 1 diabetes mellitus (DM1), with often ketoacidosis, episodes of hyperglycemia and hypoglycemia, under the dose insulin. MS characterized growth retardation and puberty delay, Cushingoid obesity, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation, dyslipidemia. Now it is a rare syndrome, firstly described by Mauriac in 1930.<str...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and poor bone mineral density. Traditionally, obesity i...

Introduction: Diabetic ketoacidosis is a frequent reason for hospital admission of children with newly diagnosed diabetes and the most frequent cause for hospitalization of children with poorly controlled diabetes.Aim: To evaluate the frequency of diabetic ketoacidosis (DKA) hospitalization for pediatric patients and resources for its decrease.Methods: Subjects included children <19 years who hospitalized with DKA in the pediat...