Endocrine Abstracts

Introduction: A rise in serum insulin levels during GH therapy is reported. Insulin resistance is a risk factor for type 2 diabetes, atherosclerosis, dyslipidemia, and hypertension. Few data describe insulin secretion and sensitivity after the end of GH therapy in children.Methods: Aim of our study was to evaluate changes in insulin secretion and sensitivity in 24 children with isolated GHD at 3 times: i) during the last year of therapy (T0); ii) 6 month...

Introduction: Higher cortisol levels and, in particular, hyperactivity of the HPA axis might play a role in the development of MS at least in adults. Data on the pediatric age are scanty.Aim of our study was to evaluate ACTH and cortisol association with MS, its components, phenotypic parameters, family history of metabolic derangements in pediatric obesity.Methods: Cross-sectional study. 271 Caucasian overweight or obese children ...

Introduction: Aim of this study was to assess the prevalence of subclinical hypothyroidism in a paediatric population of overweight and obese children and its association with metabolic parameters and with metabolic syndrome (MS).Subjects and methods: Clinical and metabolic evaluations in 600 overweight and obese children and adolescents (310 females, 290 males, 260 prepubertal, 240 pubertal, mean age: 10.7±3.1 years) were performed. MS was defined ...

Adolescent diabetes social stigma in India. Such diabetics needs proper guidance/information/treatment-counselling outlets. This is burning issue in developing-nations like India. Hence we all need to unite and form a comprehensive diabetes care and counselling policy plan at ICE/ECE-meeting-2012. Treatment options must be suitable for developing-nations considering cost of Rx. Incorporating NGO’s in such efforts is very effective.Our project method...

Introduction: Childhood cancer incidence increases all over the world, but it are optimistic that more than seventy percent of children with cancer survive due to radiation and chemotherapy. However cancer treatment may impair reproductive function. The aim of this study is to investigate level of pituitary hormones, testis/ovarian volume in women and men undergo cranial and craniospinal irradiation in childhood.Methods: Participators were examined with ...

Aim: The work was initiated to compared extent of physical and sexual development retardation in adolescents with various neuroendocrine abnormalities.Materials and methods: We examined 63 adolescents, 41 boys (59.4%) and 22 girls (34.9%) among them with various endocrine abnormalities. Mean age of boys and girls was 11.3 and 12 years, respectively. All patients underwent general clinical examination. Levels of STH, LH, FSH, prolactin, TSH, ACTH, cortiso...

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...

Aim: to study features of growth and development in teenagers with Diabetes Insipidus of central genesis.Material and methods: During 2009–2010 years we examined 37 teenagers with Diabetes Insipidus of central genesis. 19 boys (51.3%) and 18 girls (48.6%) among them. Mean age of boys and girls was 13.5 years.All patients underwent general clinical examination. Levels of STH, LH, FSH, prolactin, TSH, free thyroxin, cortisol, et...

Introduction: Recent studies have elucidated that C-type natriuretic peptide (CNP), a member of natriuretic peptide family, is a potent stimulator of endochondral bone growth; CNP and its membranous guanylyl cyclase receptor, GC-B are expressed in growth plate, and mice with targeted overexpression of CNP in growth plate exhibit prominent skeletal overgrowth, whereas CNP or GC-B knockout mice develop severely short stature phenotype owing to their impaired endochondral bone gr...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. Inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR) are responsible for the vast majority of autosomal dominant and sporadic cases of renal PHA1. The underlying pathogenic mechanism involves both haploinsufficiency as well as a dominant negative mecha...

Introduction: Effect of GH deficiency on the endocrine function of adipose tissue (AT) is poorly understood. Data on serum adiponectin (ADIPO) concentrations in patients with GH deficiency (GHD) are scarse.The aim of the study was the assessment of ADIPO serum concentrations in adolescents and young adults with GHD and evaluation of their correlations with the degree of GH/IGF1 axis function impairment as well as anthropometric and body composition param...

Introduction: Production of chemerin (CHEM), omentin-1 (OMENT), and vaspin (VASP) in adipose tissue is determined by nutritional status. There is no data on CHEM, OMENT and VASP blood serum concentrations in patients with anorexia nervosa (AN).Objectives: i) Assessment of CHEM, OMENT and VASP serum concentrations in girls with AN. ii) Analysis of correlations between the CHEM, OMENT, and VASP serum concentrations and body weight, BMI, serum insulin (INS)...

Introduction: Kisspeptins and their cognate receptor GPR-54 (Kiss-1) were found to be regulators of the hypothalamo-pituitary–gonadal axis. It is under debate if the onset of central precocious puberty (CPP) could be triggered by early increase of kisspeptin. We aimed to assess serum kisspeptin levels in girls in order to evaluate its potential as a reliable biochemical marker for differential diagnosis of CPP.Materials and methods: The girls enroll...

Several IGF1R gene mutations have been described as a cause of growth retardation due to IGF1 insensitivity. The IGF1R gene was analyzed in two children suspected to have IGF1 insensitivity. Both were born small for gestational age (SGA) and showed no postnatal catch-up growth. Both patients presented microcephaly and developmental delay. A boy (P1) was born at 37 weeks, birth weight was 1900 g (−2.98 SDS) and body length 42 cm (−4.7 SDS). At 18 months chronologica...

Introduction: Pituitary somatotrop adenomas are very rare in children and adolescents. They are supposed to be more invasive (invasion of cavernous sinuses or meninges±compression of adjacent neural structures) than adults’ones. We aimed to analyze their characteristics, and their complications.Patients and subjects: are studied subjects whose clinical symptoms began before 20 years old. They all had biological, hormonal, ophthalmological, radi...

Introduction: Wolfram syndrome (WS) is a genetic disorder that affects the quality of life of very young Patients. This condition is also referred to as DIDMOAD (diabetes insipidus-diabetes mellitus-optic atrophy-deafness).characterized by non immunogenic diabetes mellitus, and a progressive atrophy of the optic nerve, which occurs generally in the first decade of life.In order to prevent and treat this condition, a better understanding of WS pathogenesi...

Congenital combined pituitary hormone deficiency (CCPHD) is a rare disease.Although most of them are growth hormone deficient, growth retardation is not always the presenting symptom\. There is no normative data in children younger than 3 years regarding dose and frequency with rhGH treatment. The objective was to evaluate the timing of growth retardation and the first and second year growth response to rhGH compared to the mathematical growth prediction...

Women with T1DM experience high prevalence of hyperandrogenic disorders. Study aim was to examine whether they are present at adolescents and related to metabolic control and type of insulin therapy. Clinical characteristics, hormonal profile and ovarian volume were studied in 49 adolescent girls with T1DM. PCOS criteria were fulfilled in 11 (22.5%). Although girls with poor metabolic control had higher T (P=0.02) and 17-OH progesterone (P=0.03), frequency of PCO...

We assessed glycemic status using oral glucose tolerance, 72-h continuous blood glucose concentrations by CGMS, calculate HOMA and QUICKI indices.Population: 15 adolescents with β thalassemia major.Results: Oral glucose tolerance test (OGTT) In the 15 thalassemic adolescents (age=19.75±3.08 years) showed that four had impaired fasting blood glucose level (IFG)>5.6 mmol/l. One of them had diabetes (BG=16.2 mmol/l at 2-...

We studied the growth data and bone maturation of 45 CH children (25 girls, 20 boys) with CH, diagnosed through the national screening program in Qatar, for 6 years or more to examine the effects of initial T4 dosage (50 μg/day) with adjustment of T4 dose to maintain serum fT4 concentrations within the upper quartile of normal range and TSH<4 mIU/ml. Birth weight, length and head circumference of patients (3.21±0.43 kg, 50.5±...

Background: Mutations in POU1F1/PIT1 gene, a pituitary-specific transcription factor, affect the development and function of the anterior pituitary and lead to combined pituitary hormone deficiency (CPHD).Objective: The clinical and genetic analysis of the twin patients presenting with mild form of CPHD and functional characterization of identified mutation.Cases: Five-year-old identical twin brothers were referred to determine the...

Introduction: FOXP3 is a critical determinant of T regulatory cells (Tregs) development and function. Treg cells play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease such as Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). The aim of our study was to estimate the association of three polymorphism of FOXP3 gene with the predisposition to GD and HT in Polish population.<p class...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The main aim of this study is to characterize a cohort of 46,XX DSD patients followed at the Garrahan Pediatric Hospital, Buenos Aires, Argentina. Medical records of all patients followed at the Endocrinology Department because of DSD between January 1, 2000 and January 1, 2011 in whom laboratory tests were requested were reviewed. We ...

Despite high survival rates (92%) in patients with childhood craniopharyngioma (CP), quality of life (QoL) is frequently impaired due to sequelae such as severe obesity resulting from hypothalamic involvement of CP. Based on the results of the multicenter prospective study KRANIOPHARYNGEOM 2000 radical surgery is no appropriate treatment strategy in patients with hypothalamic involvement. Furthermore, tumour progression/relapses are frequent early events in CP patients. The an...

Vitamin D supplementation in childhood improves the achievement of peak bone mass. We investigated the effect of calcitriol on bone turnover in recent-onset type 1 diabetes (T1D). Moreover, the association between osteocalcin (OC) and metabolic control was examined.We conducted a post-hoc analysis of a double-blind, placebo-controlled study of calcitriol supplementation to preserve β-cell function. Twenty-seven recent-onset T1D, mean age 25.6...

Introduction: Vitamin D plays an important role on musculoskeletal composition, but new evidences highlight others possible pleiotropic effects on many tissues and also metabolic functions. Vitamin D insufficiency should be associated with all-cause mortality, in particular with cardiovascular disease and metabolic syndrome. International studies suggested that 25(OH)D level sufficiency should be established at 30 ng/ml, insufficiency between 30 and 20 ng/ml and deficiency low...

Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birt...

Objective: To investigate if the event of late-onset circulatory collapse (LCC) implicated in dysfunction of adrenal steroidgenesis due to impairment of adrenal remodeling in preterm infants.Methods: Eleven in the patient group (case) with clinical signs compatible with LCC diagnosis (hypotension, oliguria, and hyponatremia) and 11 in the control group (control) matched them for gestational age without such signs. Steroids in serum were separated and pur...

Introduction: Granulosa cell tumors account for ~ 2–3% of all ovarian malignancies. There are two types: adult granulosa cell tumor (AGCT) and juvenile granulosa cell tumor (JGCT). JGCTs are rare and constitute 5% of all granulosa tumors. Androgen production by a JGCT is even rare and may produce virilization in patients. Thyroid abnormalities in female patients with androgen-secreting JGCT has not been documented before.Objective:: We describe a un...

Introduction: Growth is an important and sensitive indicator of child health. Abnormal growth is a common consequence of many conditions, therefore its identification acts as a useful warning of possible pathology. Effective growth monitoring requires precise linear growth measurements; however, measurements are often inaccurate and unreliable. Measurement error influences the interpretation of growth patterns resulting in failure to identify underlying pathology or apparent g...

Objective: Insulin resistance may contribute to the development of nodular thyroid disease. Changes in thyroid morphology have been reported in obese patients. In this study, we examined the frequency of nodular thyroid disease in morbid obese patients (BMI>40 kg/m2) and investigated the metabolic parameters which may play a role in thyroid nodule formation.Methods: Three hundred and six morbid obese patients (296 women, 10 men) (age 46.2&...

Introduction: 5 α-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder.Aim: To identify mutations in the SRD5A2 gene in patients with 5α SRD.Methods: Patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α RD were eligible to be included in this study. The study was approved by AIIMS ethics committee, written informed consent was obtained from pat...

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...

Objectives: To investigate how CO-GHD patients are taken care of in paediatrics, during the transition period and in long-term adult follow-up.Methods: Retrospective cohort study of CO-GHD patients, transferred in our adult department between 1994 and 2011. Paediatric charts were available for all patients. For adult follow-up, parameters of metabolic, bone and cardiovascular status were recorded at several hospitalisations: the first one (V0) and at 1 (...

Introduction: Since Addison disease is relatively rare and difficult to recognize in childhood delayed diagnosis is common. Patients with adrenal insufficiency generally show hypotension, hypoglycaemia, hyponatriemia, but can also manifest mild symptoms like chronic fatigue, nausea, vomiting, weight loss, recurring abdominal pain and psychiatric symptoms. In this regard mild disturbances in mood, motivation and behavior represent the main clinical features showing a prevalence...

Introduction: The risk association between the insulin like growth factor-1 (IGF1) and cardiovascular risk is inconclusive in adults and under-explored in the pediatric population. We aimed to investigate the associations between serum concentrations of IGF1 and cardiovascular risk factors in obese children and adolescents.Methods: Cross-sectional study. Clinical and metabolic evaluations including an oral glucose tolerance test (OGTT) were performed at ...

Background: The age of the onset of puberty is much lower today than in the past century, due to the stability of the socio-economic conditions, improved quality of life and overall health of the population.Materials and methods: We examined healthy 818 boys aged from 7 to 18 years, the study was conducted between 2009 and 2011.Boys were examined in three urban districts of Tashkent city (i.e. Mirzo-Ulugbek, Shakhantaur, Yunus-Abad...

Background: Type 1 diabetes mellitus is frequently associated with endocrine autoimmune diseases especially thyroid disorders. These could have a negative impact on glycemic control even if there is no clinical evidence of thyroid dysfunction.The aim of the study was to evaluate thyroid function in a group of children with type 1 diabetes mellitus (T1DM) and no clinical evidence of thyroid diseases and to determine its impact on glycemic control.<p c...

Introduction: EURO-WABB is a European research project within the field of rare diabetes diseases. The general objective is to support efficient diagnosis, treatment and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes.Methods: The project is supported by the EU DG-SANCO by the collaboration of 8 Associated Partners (AP) and 15 Collaborating Partners. University of Birmingham work as the Project Leader...

Introduction: Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy. The diagnosis of KSS is made on the classical triad of symptoms: onset of the disease <20 years of age, progressive external ophthalmoplegia (PEO) and pigmentary retinopathy (PR). KSS is manifested also by other systemic abnormalities: cardiac conduction defects, different neurological abnormalities and several endocrine disorders. A variety of deletions and/or duplications in mtDNA, affecting gen...

Background and aim: Revelation of the incidence of CH is of great value at the background of iodine deficiency (ID) existing in Georgia. Screening on CH in our company with consequent monitoring of the newborns with neonatal hyperthyreotropinemia (NHT) started in September 2010.Materials and methods: During the first year period 70 731 newborns from all over Georgia underwent TSH (mU/l) determination from blood spots, taken at 24–72 h after birth an...

Transition is defined as the period of the life of a subject ranging from the conclusion of puberty to full adulthood (20–24 y. o.).The management of patients with GH deficiency in this period of life is related to: assessment deficit etiology: idiopathic or organic; dose of the drug; gain of the full somatic development; maturation of the sexual-reproductive; cardio-metabolic risk assessment; educational aims.Purpose of the s...

Providing good information, exchanging expertise and stimulating clinical discussions are usually main goals when structuring academic services. Nowadays, especially in large countries with social/economic differences between regions, such as Brazil, telemedicine and telehealth are resources with main strategic importance in a country’s Public Health System. Since its creation, RUTE network (Rede Universitária de Telemedicina, supported by brazilian Ministry of Scien...

Aim: Evaluate anamnesis, clinical and laboratory parameters in children with autoimmune thyroiditis (AT).Methods: We analyzed retrospectively 211 children in the endocrinological department of University hospital (Minsk) over 2002–2011 years. The number of boys (B) 42 (19.9%), of girls (G) -169 (80.1%) (stage on Tanner1- 15 (35.7%) B, 58 (24.3%) G; stage2-3 – 19 (70.3%) B, 65 (58.6%) G; stage 4-5 – 8 (29.7%) B, 46 (41.4%) G). Ultrasound of...

Introduction: Precocious pubarche is defined as pubic hair onset before age eight in girls and age nine in boys. In 5–20% of cases the cause is late-onset congenital adrenal hyperplasia (LO-CAH), which is due mainly to non-classic 21-hydroxylase deficiency. If not promptly diagnosed, it can lead to accelerated bone maturation, short final height, and in adulthood to severe acne, hirsutism and infertility.Case report: Adolescent male, 15 years-old, h...

In 1997, Japanese Child Life Specialist (CLS) was born by earning license in the United States, and then the concept of ‘preparation’ has spread in Japan. Needs for ‘preparation’ has been established as the channel to enhance child abilities with an increase in Hospital Specialists (HPS) got licenses in Britain. However, CLS and HPS do not exist in all facilities, so nurses had individually provided explanation of examinations and procedures through picture...

Symptom of tall is manifestation of many endocrine and genetic diseases. Their early detection is necessary for timely therapy, for improvement of disease state and prognosis for a disease. 47 XYY syndrome is one of frequent occurrence diseases that are accompanied with primary tall. Materials and methods. Patient L., 12 years old, was under our observation. Chief complaint – tall height. Intracranial hypertension, delay in speech development and gross motor delay were re...