Pediatric Endocrinology Unit
Pediatric Endocrinology Unit
PubMed | Karolinska Institutet, Institute cardiologia, Pediatric Endocrinology Unit, Hospital Pablo Tobon Uribe and 2 more.
Type: Journal Article | Journal: Acta paediatrica (Oslo, Norway : 1992) | Year: 2016
Published Growth studies from Latin America are limited to growth references from Argentina and Venezuela. The aim of this study was to construct reference growth curves for height, weight, body mass index (BMI) and head circumference of Colombian children in a format that is useful for following the growth of the individual child and as a tool for public health.Prospective measurements from 27 209 Colombian children from middle and upper socio-economic level families were processed using the generalised additive models for location, scale and shape (GAMLSS).Descriptive statistics for length and height, weight, BMI and head circumference for age are given as raw and smoothed values. Final height was 172.3 cm for boys and 159.4 cm for girls. Weight at 18 years of age was 64.0 kg for boys and 54 kg for girls. Growth curves are presented in a 3 SD format using logarithmic axes.The constructed reference growth curves are a start for following secular trends in Colombia and are also in the presented layout an optimal clinical tool for health care.
Zung A.,Hebrew University of Jerusalem |
Tenenbaum-Rakover Y.,Pediatric Endocrinology Unit |
Barkan S.,Hebrew University of Jerusalem |
Hanukoglu A.,lfson Medical Center |
And 4 more authors.
Clinical Endocrinology | Year: 2010
Introduction Neonatal hyperthyrotropinaemia (HT), defined by elevated TSH and normal T 4, is either transient or persistent. The eventual outcome of neonatal HT is unpredictable and the management of HT patients is controversial. We assessed perinatal parameters and diagnostic measures that may distinguish between transient and persistent HT, compared with congenital hypothyroidism (CH). We also aimed to recommend optimal treatment in these forms of thyroid impairment. Design and patients A multi-centre, retrospective study was conducted in six paediatric endocrinology units. Forty-three HT patients and 83 CH patients were included in the study. Measurements We evaluated differences in birth weight (BW), gestational age (GA), modes of diagnosis, screening and confirmatory T 4 and TSH levels, thyroid imaging results and optimal thyroxine doses between HT and CH and between the two forms of HT. Results Newborns with HT had lower BW and GA than those with CH. Transient (n = 18) and persistent HT (n = 25) patients were indistinguishable by most parameters, but those with persistent HT had a higher prevalence of abnormal thyroid imaging (69%vs 8%; P = 0·005). During treatment, 79% and 55% of transient and persistent HT patients respectively experienced elevated levels of free T 4. Although most HT patients were reevaluated after 2·5 years, six transient HT patients stopped therapy and showed full recovery within the first year of life. Conclusions We recommend obtaining thyroid imaging to distinguish between the two forms of HT. Adherence to recommended doses of thyroxine and probably early cessation of therapy in transient HT can prevent iatrogenic hyperthyroidism in these patients. © 2010 Blackwell Publishing Ltd.
Coutinho C.A.,Pediatric Endocrinology Unit |
Longui C.A.,Pediatric Endocrinology Unit |
Monte O.,Pediatric Endocrinology Unit |
Conde W.,University of Sao Paulo |
Kochi C.,Pediatric Endocrinology Unit
Hormone Research in Paediatrics | Year: 2014
Purpose: The purpose of this study was to verify the correlation between neck circumference (NC) and body mass index (BMI) in children, and to determine NC percentiles for Brazilian children. Methods: The subjects of this cross-sectional study were students between the ages of 6 and 19 years from five schools in Saõ Paulo, Brazil. Clinical and anthropometric data were collected from the students from April 2011 to June 2012. NC was measured at the level of the cricoid cartilage. We calculated Pearson correlation coefficients between NC and other indices of obesity with Sigma Stat 3.5. NC percentiles were produced using the LMS (lambda, mu, and sigma) method (STATA 12.0). Results: Among 2,794 students, 49.9% were male. NC was significantly correlated with age, BMI, waist circumference (WC), and body fat percentage (%BF). The NC of boys was greater than that of girls. The NC curves of smoothed 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles were constructed by age and sex. Conclusions: NC can be used in the assessment of obesity in childhood. There was a positive correlation between NC and BMI, WC and %BF. This study was the first to provide NC percentiles for children in Brazil. © 2014 S. Karger AG, Basel.
PubMed | Pediatric Endocrinology Unit and University of Sao Paulo
Type: | Journal: Basic and clinical andrology | Year: 2016
The evaluation of prepubertal gonadal Leydig cells secretion requires gonadotropin stimulation. Urinary hCG (human chorionic gonadotropin) is currently unavailable in many countries, however, recombinant hCG (rhCG) can be used. Our aim was to evaluate rhCG-stimulated testicular hormones in a group of patients with cryptorchidism.We evaluated 31 prepubertal boys (age range, 0.75-9.0years) presenting with unilateral (rhCG stimulation significantly increased testosterone levels from 10ng/dl to 247.8135.8ng/dl, increased DHT levels from 4.60.8 to 32.318.0ng/dl, and increased the T/DHT ratio from 2.20.4 to 8.03.5. There was also a significant increase in inhibin B (from 105.865.2 to 132.456.1pg/ml; In this cohort, hormonal responses can be elicited after the rhCG stimulation test, suggesting that rhCG is a promising stimulation test to replace the urinary hCG test during the evaluation of gonadal Leydig cells function. The clinical applicability and adequate performance of rhCG testing must be investigated in future studies.
Koren A.,Pediatric Hematology Unit |
Koren A.,Technion - Israel Institute of Technology |
Fink D.,ek Medical Center |
Admoni O.,Pediatric Endocrinology Unit |
And 4 more authors.
European Journal of Haematology | Year: 2010
Background: Blood transfusions are the standard of care in β thalassemia and transfusions are also indicated in sickle cell disease (SCD) patients with hypersplenism, recurrent vaso-occlusive crises and for stroke prevention. Iron overload caused by blood transfusions in thalassemia and in SCD may affect morbidity and mortality. Recent studies of iron overload in SCD suggest that the biologic features of SCD and the chronic inflammatory state may protect SCD patients from iron damage. Designs and methods: In view of the controversy regarding the effect of iron overload in patients with SCD we studied the iron status, including non-transferrin bound iron (NTBI) and labile plasma iron (LPI) levels in a cohort of 36 SCD patients and compare the results with 43 thalassemia patients. Results: Our results indicate that none of the SCD patients had clinical symptoms of iron overload. Only two SCD patients had NTBI values in the gray zone (0.4 units) and none had positive values. By contrast, 14 patients with thalassemia major and three with thalassemia intermedia had NTBI values above 0.6, level that are in the positive pathological range. Similarly, four thalassemia patients, but only one SCD patient had positive LPI levels. Conclusions: The parameters of iron status in SCD patients, even after frequent transfusions are different when compared to patients with thalassemia. The low NTBI and LPI levels found in patients with SCD are in keeping with the absence of clinical signs of iron overload in this disease. © 2010 John Wiley & Sons A/S.
PubMed | Pediatric Gastroenterology Unit, Hebrew University of Jerusalem, Pediatric Endocrinology Unit and Technion - Israel Institute of Technology
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2016
Two recent reports describe a new syndrome of intellectual disability, short stature, microcephaly, and young onset diabetes or disturbed glucose metabolism in association with inactivating mutations in the TRMT10A gene. We investigated the clinical spectrum presented by a 17-year-old female with a homozygous contiguous gene deletion involving the TRMT10A gene. From infancy, she presented with failure to thrive and microcephaly. Puberty was characterized by a slow and an inconsistent course of progression. Concomitantly, gonadotropin levels fluctuated between low and high levels which were compatible with gonadal failure. Unlike the previous reports, the patient had ketoacidosis at onset of diabetes and islet cell autoantibodies. Nevertheless, glycemic control was excellent (HbA1C 5.0%-6.2%). RT-PCR and Western blot analysis demonstrated a complete abolishment of TRMT10A mRNA and its translated protein. In order to elucidate the nature of diabetes in this patient, endogenous insulin secretion and glycemic control were evaluated by a glucagon stimulation test and continuous glucose monitoring both during insulin treatment and off therapy. Endogenous insulin secretion still persisted 22 months after onset of diabetes and relatively normal glucose levels were kept over 3 days without insulin treatment. The fluctuating course of puberty and diabetes may reflect intermittent apoptotic damages due to sensitization of the relevant cells to various stress agents in the absence of functional TRMT10A.
Kochi C.,Pediatric Endocrinology Unit
Hormone Research in Paediatrics | Year: 2016
Aims: To report false-negative normal growth hormone (GH) peak response in patients with ectopic posterior pituitary gland (EPP) identified with a simplified magnetic resonance imaging (FAST1-MRI). Methods: We analyzed 75 EPP patients with short stature and reduced growth velocity. Sagittal-T1 imaging (thickness: 2 mm and gap: 0.2 mm) without gadolinium administration was used. A GH peak of ≥5 ng/ml after clonidine or insulin stimulation was considered normal. Results: Normal GH response was observed in 15 of 75 (20%) patients [mean (SDS) peak = 8.2 (4.1) ng/ml]. Age at diagnosis [6.5 (3.0) years vs. 7.8 (4.1) years], gender (10 males/5 females vs. 44 males/16 females), pubertal stage (14 prepubertal/1 pubertal vs. 51 prepubertal/7 pubertal), and target height [-0.4 (0.6) vs. -0.4 (0.9)] were recorded. The perinatal history did not differ between responsive and nonresponsive patients. There was a trend to more frequent multiple hormone deficiency in nonresponsive when compared with responsive patients [3/15 (20%) and 31/60 (51.7%), respectively (p = 0.055)]. Height at diagnosis was lower in nonresponsive patients (p = 0.042). No significant difference in the IGF1 levels (p = 0.598) was observed between the groups. Conclusion: Normal GH values after stimulation tests do not exclude EPP-associated GH deficiency. A simplified fast acquisition sagittal-T1 MRI protocol investigation included at the initial diagnostic approach is able to prevent misdiagnosis of GH deficiency in patients with short stature. © 2016 S. Karger AG, Basel Copyright © 2016, S. Karger AG. All rights reserved.
Andrade A.C.,Karolinska University Hospital |
Andrade A.C.,Pediatric Endocrinology Unit |
Lui J.C.,U.S. National Institutes of Health |
Nilsson O.,Karolinska University Hospital
Pediatric Nephrology | Year: 2010
In mammals, the somatic growth rate is rapid during fetal and early postnatal life and then gradually declines and eventually stops. In search of the fundamental biological mechanism causing coordinated growth deceleration in multiple tissues, a network of imprinted genes was recently identified based on a coordinated decline in expression in several organs during postnatal growth. To explore a possible role in longitudinal bone growth, we characterized expression of the network during postnatal growth in microdissected metaphyseal bone and growth plate zones of 1-, 3-, and 9-week-old rats using real-time PCR. The expression pattern of the network is modified in growth plate. Similar to the coordinated decline previously observed in kidney, lung, liver, and heart, expression of all genes, except Gtl2, decreased with age in metaphyseal bone. On the contrary, Mest, Dlk1, H19, and Gtl2 decreased, and Cdkn1c, Grb10, and Slc38a4 increased with age in growth plate. During differentiation from resting to hypertrophic zone, Mest, Dlk1, Grb10, and Gtl2 expression decreased, whereas Slc38a4 expression increased. In particular, developmental changes in the expression of growth-promoting genes, Mest, Dlk1, Gtl2, and growth-inhibitory genes, Cdkn1c and Grb10, may contribute to the decline in longitudinal bone growth that occurs with age. © 2009 IPNA.
PubMed | Endocrinology and diabetes Research Unit, Pediatric Endocrinology Unit, Israel Center for Disease Control and Israel Ministry of Health
Type: Journal Article | Journal: Clinical endocrinology | Year: 2016
The inconclusive evidence regarding long-term safety of recombinant human growth hormone (rhGH) therapy underlines the need for long-term large-scale cohorts.To assess long-term mortality and cancer incidence among patients treated with rhGH during childhood in Israel.A population-based cohort study.Data were retrieved from a national register established in 1988. Mortality data from the national population register were available through 31 December 2014. Data on cancer incidence from the national cancer registry were available through 31 December 2012.All patients 19 years approved for rhGH treatment during 1988-2009 were included. Patients were assigned to three risk categories, according to the underlying condition leading to growth disorder.All-cause mortality and cancer incidence rates were calculated, based on person-years at risk. Standardized mortality ratios (SMRs) and standardized incidence ratios (SIRs) were calculated, using the Israeli general population as a reference.Included were 1687 patients assigned to the low-risk category and 440 patients assigned to the intermediate-risk category. In the low-risk category, all-cause mortality and cancer incidence were not significantly different than expected (SMR 081, 95% CI 022-208 and SIR 076, 95% CI 009-273). In the intermediate-risk category, all-cause mortality and cancer incidence were significantly higher than expected (SMR 405, 95% CI 162-834 and SIR 452, 95% CI 122-1157).No increased risk of mortality or cancer incidence was found in low-risk patients treated with rhGH during childhood. Patients with prior risk factors were at higher risk of both mortality and cancer.
PubMed | Pediatric Endocrinology Unit
Type: Journal Article | Journal: Hormone research in paediatrics | Year: 2016
To report false-negative normal growth hormone (GH) peak response in patients with ectopic posterior pituitary gland (EPP) identified with a simplified magnetic resonance imaging (FAST1-MRI).We analyzed 75 EPP patients with short stature and reduced growth velocity. Sagittal-T1 imaging (thickness: 2 mm and gap: 0.2 mm) without gadolinium administration was used. A GH peak of 5 ng/ml after clonidine or insulin stimulation was considered normal.Normal GH response was observed in 15 of 75 (20%) patients [mean (SDS) peak = 8.2 (4.1) ng/ml]. Age at diagnosis [6.5 (3.0) years vs. 7.8 (4.1) years], gender (10 males/5 females vs. 44 males/16 females), pubertal stage (14 prepubertal/1 pubertal vs. 51 prepubertal/7 pubertal), and target height [-0.4 (0.6) vs. -0.4 (0.9)] were recorded. The perinatal history did not differ between responsive and nonresponsive patients. There was a trend to more frequent multiple hormone deficiency in nonresponsive when compared with responsive patients [3/15 (20%) and 31/60 (51.7%), respectively (p = 0.055)]. Height at diagnosis was lower in nonresponsive patients (p = 0.042). No significant difference in the IGF1 levels (p = 0.598) was observed between the groups.Normal GH values after stimulation tests do not exclude EPP-associated GH deficiency. A simplified fast acquisition sagittal-T1 MRI protocol investigation included at the initial diagnostic approach is able to prevent misdiagnosis of GH deficiency in patients with short stature.