Endocrine Abstracts

Cushing’s disease (CD) is the most common cause of endogenous Cushing’s syndrome in children and adolescents and represents a rare cause of short stature. A 14-year-old boy came to our attention for progressive weight gain and short stature. Birth length and weight were normal; clinical history was negative for use of glucocorticoids. At examination, height was 140 cm (3th centile), weight was 37.7 kg (10th centile). Tanner stage was: G2, PH 3, testis 3 ml. Hypothyro...

Objective: To determine risk factor pattern of the metabolic syndrome (MetS) and its association with serum nitric oxide metabolites (NOx) in children and adolescents.Subjects and methods: A cross-sectional study was carried out in 409 male and 442 female children and adolescents aged 4 to 19 years. The ethical committee of our institute approved the study. The MetS was defined according to modified ATPIII criteria and factor analysis was used...

Testosterone (T) is excreted in urine as water soluble glucuronidated and sulphatated conjugates. The ability to glucuronidate T and other steroids depends on a number of different glucuronidases (UGT) of which UGT2B17 is essential. The aim of the study was to evaluate the influence of UGT2B17 genotypes on urinary excretion of androgen metabolites in pubertal boys.Study design: A clinical study of 116 healthy boys aged 8 to 19 years. UGT2B17</i...

Objective: Early puberty is associated with increased risk of subsequent cardiovascular disease. Low sex hormone-binding globulin (SHBG) levels are a feature of early puberty as well as conditions associated with increased cardiovascular risk. The aim of the present study was to evaluate SHBG as predictor of glucose metabolism and metabolic risk during puberty.Research design and methods: Cross-sectional study on 132 healthy Caucasian children and adoles...

Congenital hypothyroidism is frequently associated with congenital cardiac malformations (CCM). Studies in knock-out mice showed that heart and great vessels organogenesis share some nuclear transcription factors with the embryonic thyroid, suggesting that thyroid defects may have a higher prevalence in children with CCM. The present study investigated thyroid function and morphology in 280 children (145 M/135 F, aged 0.3–12 years), affected by CCM (septal defects, ductus...

Objective: To determine the association between markers of hepatic injury and serum, urinary, and intra-erythrocyte magnesium concentrations and dietary magnesium intake in obese children.Methods: In a case–control cross-sectional study, we studied 42 obese children and adolescents and 42 sex- and puberty-matched lean controls. Serum, urinary, and intra-erythrocyte magnesium levels, indexes of insulin sensitivity, and liver enzymes were measured. Di...

Introduction: The fetus is the most vulnerable to severe iodine deficiency and hypothyroidism during pregnancy. Severe iodine deficiency and hypothyroidism during pregnancy have long been known to be associated with neurologic deficits and mental retardation The effects of mild iodine deficiency and subclinical hypothyroidism are poorly known. The present study assesses the association between thyroid hormones and urinary iodine concentration (UIC) in healthy pregnant women an...

Patients originally diagnosed with IsGHD may develop additional pituitary hormone deficiencies later in life. This study aimed to identify factors that predict development of MPHD and to characterize the time course of specific hormone deficiencies. Pediatric patients with IsGHD were from an observational study (GeNeSIS). Additional hormone deficiency during follow-up was accepted, if indicated by check box on the case report forms, by an adverse event or by starting replaceme...

Background and aims: High correlation is revealed between type 1 diabetes mellitus (DM1) and autoimmune thyroid pathology in children. Several candidate-genes including CTLA, PTPN, Ins-23Hphl could be associated with the combined autoimmune endocrinopathy. The aim of this study was to define whether polymorphisms of CTLA 49 A/G, PTPN22-1858 C/T, Ins-23Hphl ?/? genes contribute to DM1 and autoimmune thyroiditis (AT) combination development.Material and me...

Leopard syndrome (LS) is a rare autosomal dominant disease of variable penetrance and clinical expression. LEOPARD is an acronym for the major features of the disorder: lentigines, ECG conduction abnormalities, Ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. LS is caused by different mutations in PTPN11 gene (protein-tyrosine phosphatase, nonreceptor-type, 11), allelic with Noonan syndrome (NS). The diagnosis is established if...

Background: Isolated growth hormone deficiency (IGHD) is a condition associated with the growth failure of children due to deficient growth hormone (GH) production and action. IGHD occurs in 1/4000 to 1/10 000 births and the most of cases are sporadic and idiopathic. Between 5 and 30% show familial pattern, suggesting a genetic etiology of disease. Mutations on GH-1 gene lead to growth failure and cause IGHD disease.Objective: Purpose of our research was...

Background: Laron syndrome (LS) is an autosomal recessive disease characterized by severe postnatal growth failure, short stature, normal or elevated serum GH, and low levels of IGF-I and IGF binding protein-3 (IGFBP-3). The disorder is caused by dysfunction of the growth hormone receptor resulted from mutations in GHR gene.Objective: Purpose of this research was to describe mutations on GHR gene in five children with Laron syndrome.<p class="abstext...

Obese children frequently present with accelerated growth and early puberty.Objective: To examine the degree of bone maturation in children with simple obesity.Patients and methods: One hundred eighteen boys with mean chronological age (CA) 9.9±2.2 years (3–13 years) and 102 girls with CA 8.4±2.0 years (3–12 years) with simple obesity (BMI>97th centile for age and sex) were studied. Ninety-five children were...

The authors studied the effect of one year of therapy with rhGH on growth velocity in patients with growth hormone deficiency (GHD). We analyzed 120 patients (85 boys and 35 girls), 6–21.5 years of age (mean 14.2±3.0) treated in Department of Endocrinology and Diabetology for Children and Adolescents, Medical University of Wrocław. Patients received rhGH in a dose of 0.7IU/Kg/week. Partial GHD was diagnosed in 71 cases (52 boys and 19 girls), complete GHD was ...

Aim: To study the etiology and the treatment of the non endemic goiter, in our region.Material and methods: The study group consisted of 67 children (F/M: 48/19; age: 4–17 years old) with non endemic goiter admitted in our hospital during the period, 2003–2008. The diagnostic procedures were represented by: the clinical examination (including the anthropometric measures and pubertal stages after Tanner’s criteria), laboratory data (serum c...

GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for G...

Introduction: Congenital adrenal hyperplasia is a group of autosomal recessive diseases, caused by mutations in the enzymes implicated in the synthesis of cortisol. In females, the classical pattern is characterized by progressive virilisation, short stature and in severe cases, by salt wasting in the newborn.Results: We present the case of a 14 years old female patient, who was referred to our clinic for primary amenorrhea. Her personal and family histo...

Introduction: Type 1 diabetes mellitus (DM1) is frequently associated with other autoimmune diseases. Among children and adolescents, thyroid disease is the most common autoimmune endocrinopathy. The possibility of occult thyroid disease should be considered at diagnosis and when a patient is assessed at the annual review.Objective: The aim of our study was to determine the prevalence of autoimmune thyroiditis among children and adolescents with type 1 d...