Endocrine Abstracts

Introduction: GH therapy in children with normal GH peak in stimulation tests (GHST) is still a matter of discussion. Recently, GH deficiency (GHD) has been defined as secondary IGF1 deficiency (IGFD), however GHST still remain the main procedure in diagnosing GHD.The aim of present study was to compare GH therapy effectiveness in the patients with normal results of GHST (normGH) and with isolated partial GHD (pGHD), with respect to IGF-I secretion befor...

Background: Childhood obesity is a condition where excess body fat negatively affects a child’s health or wellbeing. Potential risk factors for cardiovascular diseases (CVD) tend to cluster in childhood and are strongly associated with obesity.High levels of free fatty acids originating from visceral fat reach the liver through the portal circulation and stimulate synthesis of the triglyceride-rich lipoprotein VLDL the resulting elevation in VLDL ca...

Introduction: Velocardiofacial syndrome (VCFS) also known as DiGeorge or chonotruncal anomaly face syndrome, is a rare genetic disease caused by a microdeletion in the long arm of chromosome 22, having a prevalence of approximately 1:7000 to 1:4000. VCFS has a wide spectrum of more than 200 physical manifestations including: cleft palate, heart and facial abnormalities, eye pathology, problems with feeding, including nasal regurgitation, middle-ear infections (otitis media), l...

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, together with cardiac conduction defects, muscle abnormalities and endocrinopathies such as growth hormone deficiency (GHD), diabetes and hypoparathyroidism.We present a 2 years 9 months-old boy with clinical and biochemical diagnosis of KSS and GHD. He was referred with failure-to-thrive. He was born at term from healthy...

NAFLD has become the most common cause of chronic liver disease in obese children.Two years-one month-old boy admitted to clinic for obesity. Parents were first cousin. Weight was 20 kg (>90p), height was 84 cm (50 p), BMI was 28.34 kg/m2 (>97 p). Physical examination was normal except diffuse hypertrichosis and right kriptoorchidism. On the follow-up, he never lost weight. At 4-years-old, FPG was 112 mg/dl, AST was 67 IU, ALT was 72 I...

Introduction: Ataxia telangiectsia (AT) is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with predisposition for infections, cancers, and autoimmune diseases. This case illustrates the affection of endocrine system in the form of hypothyroidism and hyper-gonadotrophic hypogonadism.Case Report: A 14-year-old girl presented to our clinics at Hamad General Hospital, with history of prog...

Background: Vitamin D deficiency – a common condition in infants without supplementation – leads to a variety of health impairments.Objectives: To assess 25-OH-vitamin D (VD) status in infants with prolonged hospitalisation, without direct exposure to sunlight.Materials and methods: Twenty-two infants (mean age 6 years 3 months), admitted into Recuperation Department of a Children Hospital for nutritional rehabilitation, ...

Introduction: GH therapy (rhGH) improves growth outcome in children born small for gestational age (SGA). Growth velocity is maximum in the first year of therapy. Early diagnosis and treatment optimizes the final height.Objectives: Evaluation of efficacy and safety profile in the first 3 years of rhGH treatment in ten SGA children.Methods: The study enrolled ten SGA children (6 boys, 4 girls). All patients were given a mean dose of...

Introduction: Secondary hypothyroidism is observed in children after brain damage. The aim of the study is evaluation of mental development in preterm-born children during replacement therapy with l-thyroxin because the secondary hypothyroidism. Description of methods: The motor and mental development preterm new-borns with secondary hypothyroidism treated with l-thyroxin since the second week of life were compared with the development of preterm new-bor...

Introduction: The causes of short stature are various and their frequency depends on whether we consult in pediatric or endocrinology.Although endocrine pathology is involved in a little <10% of cases, its recognition is important because it leads to a specific treatment that enhances the stature prognosis.Aim: Search etiologies statural delays observed in endocrinology and assess the frequency of GH deficiency.<p class="ab...

Objective: To study feeding habits in children of different ages with alimentary obesity compared with normative values.Methods: We compared 3 days food diaries of 98 children with alimentary obesity observed in the Endocrinology Department of University Hospital (Minsk) with nutritional standards of healthy children recommended by Belarusian National Center for Hygiene, Epidemiology and Public Health – control (K). Patients were divided into three ...

Aim: To identify perinatal risk factors of the development of simple obesity in adolescence.Methods: We analysed retrospectively 327 histories of development in pubertal children, with the division into two groups: group 1 – 158 obese children (age 14.6±2 years, BMI 33.4±5 kg/m2), group 2 – 169 normal-weight patients (age 12.6±2.2 (P=0.2); BMI 20.5±1.2 kg/m2 (P<0.05)) from the Univ...

Introduction: Diabetes is an urgent medical and social problem. This disease has a prevalence of features of the epidemic, which covers the majority of economically developed countries. Complications of diabetes are the cause of early disability and high mortality of children. Incidence of diabetes among children is significantly different in different countries. The highest incidence rates observed in the Scandinavian countries. Countries with low incidence – Chile, Mexi...

Introduction: The start of GH (rhGH) treatment in children with GH deficiency (GHD) causes a significant increase in bone turnover and increases height velocity. The increase in IGF1 concentrations during rhGH treatment is a marker of the efficiency of treatment. Bone age delay at baseline is related to GHD and is a good predictor of height velocity during treatment. A significant increase in bone turnover during rhGH treatment results in an increased demand for vitamin D. It ...

Introduction: Nonclassical congenital adrenal hyperplasia (NCCAH) is caused by reduced 21-hydroxylase activity, leading to excessive adrenal androgens and premature pubarche (PP); idiopathic PP (IPP) is its main differential diagnosis. The gold standard for the differential diagnosis is ACTH stimulation test (ST); this test also estimates the adrenal cortisol reserve in NCCAH patients.Objectives: To compare the clinical characteristics and baseline hormo...

Background: Social adaptation difficulty is one of the serious complications in obese children. It manifests with the complex of emotional and behavioral disorders.Aim: To estimate the peculiarities of psychological status, frequency, and severity of depressive disorders in obese children.Methods: We examined 242 children in the in the Endocrinological Department of University Hospital (Minsk); group 1 – 152 obese children (BM...

Background: Binge eating (BE) is a common cause of severe paediatric obesity, which develops after the uncontrolled wish of changing the present emotional condition.Aim: To study the phenomenon of BE in the context of emotional disorders in severe obese children.Methods: We examined 88 children with severe obesity (mean±s.d. 11.5±3.4 years; BMI 29.7±5.7 kg/m2) in the Endocrinological Department of Universi...

Biological significance of microelements depends on concentration and interaction between them. Children are more sensitive to micronutrients imbalance. The aim was to estimate the microelement imbalance influence on the thyroid gland function and physical, mental and intellectual development of the children.Growth and weight were estimated by CDC 2000, psychological status from birth by the skills and speech development, from 8 years by Luscher, Kos, Sc...

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism in children. Therapeutic options available (anti-thyroid drugs, radioactive iodide, and thyroidectomy) are associated with complications and treatment of this age group remains controversial.Objective: To review our experience in the management of pediatric patients with GD.Materials and methods: Retrospective review of 35 children, diagnosed betwee...

Background: The prevalence of polycystic ovary syndrome (PCOS) in adolescents is reported up to 38.9%. Obesity is a known risk factor associated with PCOS increasing the risk of metabolic syndrome (MS). Up to 25% of adolescents with PCOS may have derangements in glucose metabolism and insulin resistance (IR).Aim: To evaluate PCOS prevalence in overweight/obese adolescent girls and to assess the association with BMI, MS and IR.Metho...

Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).Methods: We reviewed the cases of five children with NS (three boys, two girls, a...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...

With the increasing prevalence of obesity in children, there is a growing number of its comorbidities as nonalcoholic fatty liver disease (NAFLD).The aim of this study was to evaluate the prevalence of NAFLD in a group of obese patients and to identify additional risk factors for NAFLD development in the examined population.Materials and methods: We examined 88 obese children (41 boys) mean age 14.4 (±2.6) hospitalized in our ...

The aim of the study was to evaluate hormonal profile in diabetic adolescent girls with menstrual disorders and compare them to regularly menstruating diabetic and healthy girls.We studied 54 adolescent girls with T1DM treated with intensive and continuous insulin therapy in the chronological age of 15.9±1.3 years and gynecological age of 33.7±16.7 months with the mean HbA1c for the last year 7.4±1.5%. In 18 (33%) girls menstrual disturban...

Up till now, altered balance of T helper 1 (Th1) and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases suggest a new role for Th17 (T helper 17) cells which have the ability to secrete cytokines: IL17, IL17F, IL21, and IL23. The aim of the study was to estimate the proporcions of circulating CD4+CD161+CD196+ and CD4+IL17+ Th17 cells and serum concentrations of IL...

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age o...

Oxidative stress in humans has been associated with obesity. Puberty is a maturation period characterized mainly by changes of the GH and the gonadotrophin hormones secretion. To investigate the possible association of the GH and the hypothalamic–pituitary–gonadal (HPG) axes before and during early puberty, with the pro- and anti-oxidation mechanisms 76 healthy, pre-pubertal normal weight (n=28), pre-pubertal obese (n=11), early pubertal normal weig...

Introduction: Male under virilization is a rare condition mostly due to the mutations of hormones that effect male reproductive tract. One of the most important gene mutations that effect that pathway is the androgen receptor gene (AR) mutations which is located at Xq12 in individuals with 46, XX. In this report, we present the AR and SRD5A2 gene analysis of three different under-virilized patients with 47, XXY karyotype.Methods: Chromo...

Achondroplasia is the most common genetic causes dwarfism. Its prevalence is 1/10 000 à 30 000 birth. it is an autosomal dominant disease associated with the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Aim: Find the frequency of neurological complications and identify scalability.<p ...

Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI.Clinical history: A 14-year-old male patient, with short stature, growth arrest after 12 years and weight gain since age of 9. At physical examination, he had mo...

Introduction: GH deficiency cause a short stature in the child. In the adult hood, other complications appear: An increase of cardiovascular mortality due to an atherogenic profil of lipids and glycaemia abnormalies is reportedAim: Search metabolic disorders in children and adolescents presenting GH deficiencyMaterials and Methods: Patients (56 boys, 36 girls) follow up in our consultation for deficit in GH (Diagnosed on clinical a...

Background: Treatment outcome with hydrocortisone for congenital adrenal hyperplasia (CAH) in neonates and children is highly variable. As there is no licensed formulation for children <6 years hydrocortisone capsules individually have to be compounded by local pharmacies (dose strength: 0.5–9.5 mg). The aim of this study was to characterise mass and content of these capsules in order to assess medication safety for effective and nontoxic dosing in terms of precision ...