Journal of Pediatric Endocrinology and Metabolism

Published by De Gruyter

Volume 24 Issue 1-2

Issue of Journal of Pediatric Endocrinology and Metabolism

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Contents
Journal Overview

Publisher's Note

March 1, 2011

Abstract

No abstract available

Editorial

March 16, 2011

Sex steroid priming for growth hormone (GH) provocative tests: an endless debate with insufficient solution

Zvi Zadik

Page range: 3-4

Abstract

No abstract available

March 16, 2011

Not ready for prime time

Pinar Gumus, Stuart Chalew

Page range: 5-6

Abstract

No abstract available

Commentary

March 16, 2011

Abstract

No abstract available

March 16, 2011

Pros of priming in the diagnosis of growth hormone deficiency

E. Nazli Gonc, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir

Page range: 9-11

Abstract

Priming with sex steroids in stimulation tests for the diagnosis of GHD is still under debate. Most of the data on utility of priming during GH stimulation so far seem to support its use in the diagnosis of GHD in childhood. There is a propensity to treat growth retarded children who test subnormally to stimulation tests with GH. However, some studies analyzing the final height or height gain during GH treatment in such children failed to show any improvement in height. This paper summarizes previous studies on priming to analyze the utility of priming as a valid method to better the diagnostic capacity of the test.

Images in Pediatric Endokrinology

March 16, 2011

Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant

Tammy Brinsmead, Kieran Frawley, Louise S. Conwell

Page range: 13-14

Abstract

No abstract available

Original Contributions

March 16, 2011

The influence of an educational program on the HbA_1c-level of adolescents with type 1 diabetes mellitus: a retrospective study

Sabine Verbeek, Rimke C. Vos, Dick Mul, Mieke E.C.A.M. Houdijk

Page range: 15-19

Abstract

Objectives: Adherence to diabetes management tasks in type 1 diabetes mellitus (T1DM) patients deteriorates during puberty. This causes glycemic dysregulation, which accelerates the development of long-term complications. Methods: The data of 25 poorly regulated T1DM-patients were compared before and 3 and 9 months after a psycho-educational program. Data were extracted from patient’s records. The psycho-educational program consisted of three sessions for the patients and one for the parents in a 3-month period. Results: HbA 1c -levels at baseline (10.0±0.72%), decreased by 0.65% after 9 months follow-up (p=0.08). A subgroup of 15 patients showed a clinical significant HbA 1c -reduction of ≥0.5% at 9 months follow-up (subgroup A), with a mean reduction of 1.6%. Conclusions: These encouraging results show that a psycho-educational program can be of benefit in improving HbA 1c -levels in poorly regulated adolescents with T1DM. More research with a larger population is necessary to evaluate the value of psycho-educational programs in this age-group.

March 16, 2011

Contribution of clinical, metabolic, and genetic factors on hypertension in obese children and adolescents

Zeynep Şıklar, Merih Berberoglu, Senay Savas Erdeve, Bülent Hacihamdioglu, Gönül Öcal, Yonca Egin, Nejat Akar

Page range: 21-24

Abstract

The role of ACE gene insertion (I) or deletion (D) polymorphism on blood pressure phenotype is not clear in children. The aim of this work is to examine the association between hypertension and ACE I/D polymorphism, as well as the contribution of clinical and metabolic parameters on blood pressure. The study participants were 199 obese children. Forty-four of them were hypertensive. The hypertensive subjects were older than the normotensive and most of them were pubertal. The prevalence of hypertension in obese subjects with II, ID, and DD genotype was similar. There was no difference between the hypertensive and the normotensive group according to ACE I/D genotype, BMISDS, sex, blood glucose level and total cholesterol levels. In obese children, high IR-HOMA values, puberty, presence of family history for hypertension, hypertriglyceridemia, and low HDLcholesterol, high triglyceride/HDL-cholesterol ratio were found as increased risk factors of hypertension. In obese children and adolescents, blood pressure did not differ by ACE I/D genotype. The presence of family history, puberty, insulin resistance and hypertriglyceridemia constitute important risk factors for developing hypertension.

March 16, 2011

Hyperphosphatemic tumoral calcinosis: a 10-year follow-up

Crésio Alves, Renata Lima

Page range: 25-27

Abstract

Objective: To report a case of primary hyperphosphatemic tumoral calcinosis (TC) and its long-term 10-year follow-up. Patient: The patient was an 18-year-old male, who had been diagnosed with TC at the age of 8 years. In spite of nine surgeries for tumoral resection and medical treatments (i.e., aluminum hydroxide, non-steroidal anti-inflammatory agents) the lesions continued to progress. Physical examination showed calcified masses on shoulders, hip, elbows and right foot. PTH, calcitonin, 25(OH) vitamin D, 1,25(OH) 2 vitamin D, renal and liver function, electrolytes, alkaline phosphatase, calcium and magnesium were normal. Serum phosphorus was elevated. FGF-23 (C-terminal): 1960 RU/mL (<180) Radiological and histological studies were compatible with TC. Conclusion: This long-term follow-up illustrates the morbidity and difficulty in treating these patients due to the progressive and recurrent nature of the calcified masses, for which there is no effective treatment as yet. The discovery of FGF-23 as the factor responsible for the hyperphosphatemic type of TC paves the way for forthcoming therapies.

March 16, 2011

Vitamin D deficiency and insulin resistance in obese African- American adolescents

Gail Nunlee-Bland, Kanwal Gambhir, Cynthia Abrams, Mustapha Abdul, Marjan Vahedi, Wolali Odonkor

Page range: 29-33

Abstract

Objective: The study aim determined if low 25-hydroxy vitamin D levels correlated with low levels of adiponectin and insulin resistance in African American adolescents with body mass index ≥85th%. Patients and methods: Fasting blood levels of adiponectin, 25-hydroxy vitamin D, insulin, glucose, lipid, leptin and glycosylated hemoglobin were measured in a total of 34 (19 study and 15 control) African American adolescents between the ages of 10 and 20 years. Nutritional vitamin D intake and body composition measurements were assessed. Insulin resistance was calculated using the homeostasis model assessment. Results: Adiponectin, fasting insulin, glucose, leptin, triglycerides, HDL, and 25-hydroxy vitamin D levels all reached statistical significance in the group with body mass index ≥85th percentile when compared to the control population. There was no difference in vitamin D intake between the two groups. Conclusions: Low vitamin D levels correlated with low adiponectin levels and obesity and insulin resistance.

March 16, 2011

Evaluation of children with nutritional rickets

Yasar Cesur, Murat Doğan, Sevil Ariyuca, Murat Basaranoglu, Mehmet Selçuk Bektas, Erdal Peker, Sinan Akbayram, Hüseyin Çaksen

Page range: 35-43

Abstract

Aim: To evaluate the clinical fi ndings, risk factors, therapy and outcome in 946 children with nutritional rickets. Patients and methods: This retrospective study included a review of medical records of patients with nutritional rickets between March 2004 and 2009. Patients who displayed both the biochemical inclusion criteria and the clinical signs/symptoms or radiological signs of rickets were included in the study. Results: The present study included 946 patients aged between 4 months and 15 years. Distribution of the cases showed a density between December and May. The age at diagnosis, showed two peaks and most of the patients were in the age range 0–23 months and 12.0–15 years. In infants and young children, most of the patients had been admitted to the hospital due to infectious diseases. In older children, short stature and obesity were the most common complaints. Conclusion: Children aged between 0–23 months and 12.0–15 years were under most risk for nutritional rickets, especially in winter and spring and vitamin D should be given to them as supplementation dose.

March 16, 2011

The effects of delivery route and anesthesia type on early postnatal weight loss in newborns: the role of vasoactive hormones

Nurullah Okumus, Yildiz Atalay, Eray E. Onal, Canan Turkyilmaz, Saliha Senel, Berrin Gunaydin, Hatice Pasaoglu, Esin Koc, Ebru Ergenekon, Suna Unal

Page range: 45-50

Abstract

Objective: To investigate the effects of delivery route and maternal anesthesia type and the roles of vasoactive hormones on early postnatal weight loss in term newborns. Methods: Ninety-four term infants delivered vaginally (group 1, n=31), cesarean section (C/S) with general anesthesia (GA) (group 2, n=29), and C/S with epidural anesthesia (EA) (group 3, n=34) were included in this study. All infants were weighed at birth and on the second day of life and intravenous (IV) fluid infused to the mothers for the last 6 h prior to delivery was recorded. Serum electrolytes, osmolality, N-terminal proANP (NT-proANP), brain natriuretic peptide (BNP), aldosterone and plasma antidiuretic hormone (ADH) concentrations were measured at cord blood and on the second day of life. Results: Our research showed that postnatal weight loss of infants was higher in C/S than vaginal deliveries (5.7% vs. 1.3%) (p<0.0001) and in EA group than GA group (6.8% vs. 4.3%) (p<0.0001). Postnatal weight losses were correlated with IV fluid volume infused to the mothers for the last 6 h prior to delivery (R=0.814, p=0.000) and with serum NT-proANP (R=0.418, p=0.000), BNP (R=0.454, p=0.000), and ADH (R=0.509, p=0.000) but not with aldosterone concentrations (p>0.05). Conclusion: Large amounts of IV fluid given to the mothers who were applied EA prior to the delivery affect their offsprings’ postnatal weight loss via certain vasoactive hormones.

March 16, 2011

Abdominal obesity is associated with cardiovascular risk in Japanese children and adolescents

Satoru Iwashima, Yuichi Nakagawa, Takamichi Ishikawa, Shinichirou Sano Eiichiro Satake, Eiko Nagata, Takehiko Ohzeki

Page range: 51-54

Abstract

Background: Metabolic syndrome is listed as a risk for atherosclerosis. However, changes in that risk during childhood and adolescence have not been well-documented. It is also unclear whether individuals with abdominal obesity, but with as yet undiagnosed metabolic syndrome, have cardiovascular risks. Methods and results: Ninety-two patients were studied at the Hamamatsu University School of Medicine Department of Pediatrics. Physical measurements including abdominal circumference (AC), body mass index (BMI), body fat (BF), intima media thickness (IMT), arterial elasticity: beta index (Beta), carotid artery compliance (CAC), and Young’s elastic modulus (YEM) using ultrasonography were taken. A positive correlation between systolic blood pressure, AC, BMI, and BF was observed (AC, r=0.717, p<0.001; BMI, r=0.672, p<0.001; BF, r=0.518, p<0.001). IMT showed a weak positive correlation with AC, BMI and BF (AC, r=0.211, p=0.044; BMI, r=0.233, p=0.025; BF, r=0.232, p=0.026). The relationship between AC, BMI, BF and arterial elasticity, especially in AC, positively correlated with beta index and YEM but negatively correlated with CAC. Conclusion: We suggest that AC is the most sensitive marker in the detection of arterial elasticity, even in school age children. Earlier pre-diagnostic intervention, especially in the prevention of abdominal obesity, may reduce the incidence of metabolic syndrome in children and adolescents.

March 16, 2011

PPAR-γ2 Pro12Ala polymorphism is associated with post-challenge abnormalities of glucose homeostasis in children and adolescents with obesity

Agnes Jermendy, Anna Körner, Margit Kovács, László Madácsy, Károly Cseh

Page range: 55-59

Abstract

Aim: The aim of the study was to investigate the association between PPAR-γ2 Pro12Ala polymorphism and laboratory characteristics of carbohydrate metabolism in children and adolescents with obesity. In addition, serum levels of tumor necrosis factor (TNF)-α, and soluble form of its receptors (sTNFR1 and sTNFR2) were assessed. Methods: In a cross-sectional study, 79 obese children and adolescents of Caucasian origin were investigated. PPAR-γ2 Pro12Ala polymorphism was determined using polymerase chain reaction – restriction fragment length polymorphism technique. Serum levels of TNF-α, sTNFR1 and sTNFR2 were measured by enzyme amplified sensitivity immunoassay. Results: The minor Ala allele frequency was found to be 14.56% in our cohort. No significant differences in age, BMI, waist circumference, blood pressure, serum lipid, uric acid, TNF-α, sTNFR1 and sTNFR2 values were found between carriers of the Ala allele (Pro/Ala and Ala/Ala; n=21) vs. homozygous carriers of the Pro allele (Pro/Pro; n=58). However, post-challenge (120 min) plasma glucose and insulin values were significantly lower in Ala allele carriers vs. homozygous Pro allele carriers (6.56±0.26 vs. 7.36±0.25 mmol/L and 65.9±13.8 vs. 111.8±20.7 μU/mL, respectively; p<0.05); while no significant differences were found at fasting state. Conclusions: The association between PPAR-γ2 Pro12Ala polymorphism and glucose metabolism is already present in children and adolescents with obesity who might be at the very beginning of the natural course of type 2 diabetes. At this stage, higher insulin sensitivity can be detected in Ala allele carriers compared to homozygous Pro subjects at post-challenge but not in fasting state; however, the TNF-system seems not to be involved in the alteration of glucose homeostasis due to PPAR-γ2 Pro12Ala polymorphism.

March 16, 2011

The relationship between pubertal gynecomastia, prostate specific antigen, free androgen index, SHBG and sex steroids

Mustafa Kilic, Nuray Kanbur, Orhan Derman, Sinem Akgül, Tezer Kutluk

Page range: 61-67

Abstract

Objective: To investigate the relationships between pubertal gynecomastia, prostate-specific antigen (PSA), free androgen index (FAI), sex hormone-binding globulin (SHBG) and sex steroids. Methods: A total of 61 male adolescents (10–17 years old; mean: 13.67±1.08) with gynecomastia were enrolled into the study group. A total of 65 healthy age-matched adolescents were included in the control group. Body mass index (BMI), Tanner staging, testis volume, stretched penis length (SPL) and bone age were evaluated. Serum follicle-stimulating hormone, luteinizing hormone (LH), estradiol (E 2 ), testosterone, free testosterone, SHBG, PSA levels were determined and FAI was calculated. Results: In the study group, free testosterone (p=0.012) and FAI (p=0.05) were significantly lower than the control group. In the control group, SHBG levels decreased (p<0.05) and FAI increased (p<0.05) significantly with increasing Tanner stages; however, no such difference was observed in the study group (p>0.05). High FAI was found to decrease the risk of gynecomastia (odds ratio: 0.211, 95% confidence interval: 0.064–0.694, p=0.01). PSA showed a positive correlation with FAI, free testosterone, Tanner staging, testosterone, E 2 and LH levels. Conclusions : PSA is a good indicator of androgen activity during puberty. However, owing to FAI remaining as the single significant variable for pubertal gynecomastia, we suggest that it is still the best parameter to elucidate the etiopathogenesis of gynecomastia as well as other pubertal developmental abnormalities in male adolescents, and further longitudinal studies are needed to investigate the relationships between PSA and FAI in puberty.

March 16, 2011

Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy

Ozlem Sangun, Bumin N. Dundar, Elvan Erdogan

Page range: 69-70

Abstract

Infantile hypercalcemia becomes manifest in 15% of patients with Williams syndrome (WS) and generally is not clinically severe. However, some patients with WS can have severe hypercalcemia and do not respond well to traditional therapies. Recently, pamidronate has been used in the treatment of childhood hypercalcemia associated with many disorders, but there is little experience with the treatment of hypercalcemia with bisphosphonates in patients with WS. We present a 17-month-old female patient, who had been diagnosed as WS by genetic analysis, admitted to our clinic for the investigation of severe hypercalcemia (4.02 mmol/L). Because the patient did not respond very well to fluid administration, furosemide infusion, and dietary calcium restriction, pamidronate infusion was performed and calcium levels returned to normal within 2 days. This case report is presented to point out that pamidronate therapy seems to be a safe and efficient way of treating life-threatening hypercalcemia in WS.

March 16, 2011

The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes

Claudia Boettcher, Burkhard Brosig, Klaus P. Zimmer, Stefan A. Wudy

Page range: 71-74

Abstract

Wolfram syndrome (also known as DIDMOAD=diabetes insipidus, diabetes mellitus, optic atrophy, deafness) is an autosomal recessive disorder characterized by the association of childhood non-immune insulin-dependent diabetes mellitus (DM) with progressive bilateral optic atrophy. Additional symptoms including signs of severe neurodegeneration and psychiatric illness are likely to evolve over time resulting in premature death. We report on two siblings of Turkish origin from our diabetes clinic who were diagnosed with Wolfram syndrome after 6 years and 2 years duration of DM, respectively. Subtle symptoms such as attitude changes, growing reading difficulties in the history of children or adolescents with antibody negative and ketone negative DM should alert the treating physician and lead to re-evaluation of the diagnosis, keeping in mind that not all juvenile DM is type 1 DM.

March 16, 2011

The frequency of Hashimoto thyroiditis in children and the relationship between urinary iodine level and Hashimoto thyroiditis

Murat Doğan, Emel Acikgoz, Mehmet Acikgoz, Yasar Cesur, Sevil Ariyuca, Mehmet Selcuk Bektas

Page range: 75-80

Abstract

The aim of this study was to determine the frequency of thyroid autoimmunity in second grade primary school students and to examine the relationship between iodine and Hashimoto thyroiditis (HT). This was a cohort study performed with 1000 students. Urinary iodine levels, antithyroid peroxidase (anti-TPO) and antithyroglobulin (anti-Tg) antibodies were determined in all children. Children with anti-TPO or anti-Tg antibody positivity or with goiter were summoned for detailed examinations. In total, 36 cases (3.6%) were diagnosed as HT. The goiter frequency was found in 17.5% of the whole cohort. Additionally, iodine deficiency was found in 64.2% of all children. The median urinary iodine excretion was determined as 132 μg/L (range 382 μg/L) in the HT group, whereas it was 73 μg/L (range 390 μg/L) in children with goiter but without HT and 81 μg/L (range 394 μg/L) in normal children. The urinary iodine level of HT cases was significantly higher than the other two groups (p<0.001). HT was also determined in 2% of patients with low urinary iodine levels, in 6.2% of patients with normal urinary iodine levels, and in 7.5% of patients with high urinary iodine levels. Our data demonstrates the close relationship between excessive iodine levels and autoimmunity.

March 16, 2011

The relationship between serum phosphate levels with childhood obesity and insulin resistance

Nurullah Çelik, Nesibe Andıran

Page range: 81-83

Abstract

Aim: To investigate the relationship between serum phosphate levels with obesity and insulin resistance in childhood. Methods: A total of 298 children and adolescents (190 obese subjects and 108 controls) were included in the study. Serum glucose, insulin, phosphate, calcium and alkaline phosphatase levels were measured after 12 h fasting at 08:00–08:30 h. We assessed insulin sensitivity by using the HOMA-IR (homeostasis model of insulin resistance) index as a surrogate marker of insulin resistance. Results: Serum levels of phosphate were significantly lower in the 6- to 12-year-old obese subjects than controls (p=0.02, p<0.05). At the same time, there was a moderate negative correlation between serum phosphate levels and the HOMA-IR index in the 6- to 12-year-old IR (–) obese children (r=–0.26, p=0.02). Conclusions: Low serum phosphate levels could contribute to the development of insulin resistance in 6- to 12-year-old obese children.

March 16, 2011

The relationship of salivary and cord blood cortisol inpreterm infants

I-Ching Chou, Han-Chung Lien, Hung-Chih Lin, Jachih J.C. Fu, Chia-Hung Kao, Chang-Hai Tsai, Pao-Hsuan Lin, Fuu-Jen Tsai

Page range: 85-88

Abstract

Recent studies reveal that salivary cortisol measurements accurately reflect blood cortisol levels in older children and adults; yet, the relationship between the two values in premature infants has not been established. This study explores the use of salivary cortisol as an accurate measure of adrenal steroid concentrations in premature infants to provide a reliable and less invasive tool for investigating hormonal stress response. Premature infants (n=51) were recruited, with saliva and blood collected immediately after birth, and cortisol levels measured by radioimmunoassay. A linear relationship emerged between cord plasma and salivary cortisol values in the 102 paired samples [(salivary cortisol)=0.546+0.192×(plasma cortisol), r=0.481 and p=0.0003]. Findings demonstrated that salivary and plasma cortisol levels were correlated in premature infants. This information will be useful in future studies that assess use of salivary cortisol to evaluate neonatal stress axis function.

March 16, 2011

A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormonefor idiopathic short stature

Andrea K. Goldyn, Zeina M. Nabhan, Erica A. Eugster

Page range: 89-91

Abstract

Background: Short stature is a common reason for referral to the pediatric endocrine clinic. In 2003, the US Food and Drug Administration (FDA) approved the use of growth hormone (GH) for the treatment of children with idiopathic short stature (ISS). Objective : To explore if this indication changed referrals for short stature (SS). Design/Methods : A retrospective chart review of children seen for SS in the pediatric endocrine clinic between July 1998 and June 1999 (interval one, n=138) and July 2005–June 2006 (interval two, n=268) was performed. Variables collected included age, gender, height (h), and parental heights. Results : Average height standard deviation score (HT-SDS) was –2.11±0.9 in interval one and –2.14±0.83 in interval two (p=ns). No differences in age, gender distribution, relationship between child and parental heights, the proportion of subjects started on GH for ISS or in the HT-SDS of those treated between the two intervals were identified. Nearly half of all children referred in each interval did not meet the technical criteria for short stature. Conclusions: No differences in referral patterns for SS in our area following FDA approval of GH for ISS were identified. Although referrals appear unchanged, additional investigation of GH prescribing patterns before and after this new indication is needed. Continued education of primary care physicians and the general public regarding the definition of SS and the eligibility for GH therapy should be pursued.

March 16, 2011

Benign transient hyperphosphatasemia in infants and children: a prospective cohort

Jonathan E. Teitelbaum, Alexandra Laskowski, Frank P. Barrows

Page range: 93-95

Abstract

A total of 20 children with benign transient hyperphosphatasemia were prospectively evaluated with no additional investigations recommended except repeat serologic evaluation in 2–3 months. The average age of our patients was 2.5 years (range: 1 year 2 months–5 years 10 months). The serum levels of alkaline phosphatase averaged 2383 IU/L (range: 1013–5700 IU/L). Levels returned to normal within several months. This condition should be recognized by the clinician in order not to put patients through lengthy, expensive and unnecessary investigations.

March 16, 2011

Carotid arterial stiffness in overweight and obese Indian children

Deepa Pandit, Arun Kinare, Shashi Chiplonkar, Anuradha Khadilkar, Vaman Khadilkar

Page range: 97-102

Abstract

Objective: The aim of the study was to evaluate carotid arterial stiffness and intima media thickness (IMT) in obese children in comparison with healthy children, and to examine associations of lipid profile and blood pressure with carotid artery morphology. Methods : Anthropometric and blood parameters were assessed in 44 overweight, 95 obese (6–17 years) and 69 healthy age-matched normal children. Percent body fat was measured by dual-energy X-ray absorptiometry and stiffness and IMT of the common carotid artery were evaluated using Aloka α 10 equipment. Results : Anthropometric and lipid parameters were significantly higher in overweight and obese than in normal children (p<0.05). Stiffness (β), pulse wave velocity (PWV), elastic modulus (Ep) and blood pressure were significantly higher in obese and overweight children than in normal children (p<0.05). However, overweight and obese children did not show any significant difference in IMT compared with normal children (p>0.1). Significant positive correlation of PWV, β and Ep and negative correlation of arterial compliance with body fat and triglyceride was noted (p<0.05). Different multinomial regression models for each e-Tracking parameter indicated that the relative risk of hypertension was highest with high PWV, followed by LDL cholesterol, Ep and body fat. Conclusion : PWV may be considered an important marker for evaluation of early functional changes of the carotid artery in children and adolescents.

March 16, 2011

Association study in Taiwanese girls with precocious puberty

I-Ching Chou, Chung-Hsing Wang, Wei-De Lin, Chang-Hai Tsai, Fuu-Jen Tsai

Page range: 103-104

Abstract

Background : The timing of puberty has a genetic component. Recently, genome-wide association studies have identified that rs314280 on 6q21 (near the LIN28B gene) and rs2090409 on 9q31.2 (in an intergenic region) are associated with age at menarche. In this study, we aimed to determine whether the two loci were associated with the timing of puberty in Taiwanese girls. Results : A total of 117 girls were divided into two groups: 1) precocious puberty (n=50) and 2) normal control subjects (n=45). The genotype proportions and allele frequencies in both groups were not significantly different. Conclusion : These data suggest that rs314280 and rs2090409 polymorphisms are not a useful marker for prediction of the susceptibility of precocious puberty.

Patient Report Letters

March 16, 2011

A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy

Fatih Temiz, Mehmet Nuri Ozbek, Damla Kotan, Ozlem Sangun, Neslihan Onenli Mungan, Bilgin Yuksel, Ali Kemal Topaloglu

Page range: 105-108

Abstract

WISP3 is a member of the CCN (for CTGF , CYR61 , and NOV ) gene family, which encodes cysteine-rich secreted proteins with roles in cell growth and differentiation. Mutations in the WISP3 gene are associated with the autosomal recessive skeletal disorder, also known as progressive pseudorheumatoid arthropathy of childhood (PPAC). We diagnosed three siblings from a non-consanguineous family with PPAC. The patients were asymptomatic in early childhood. Signs and symptoms of disease that include progressive joint stiffness, swelling of the finger joints, and osteopenia, and slow linear growth developed between 2 and 8 years of age. PCR amplification and direct sequencing of the WISP3 gene revealed a homozygous mutation at nucleotide 156 of the WISP3 gene, resulting in a Cys52-to-ter substitution. This mutation has previously been reported in French, Italian, and Arab families. Interestingly, the C52X mutation was found to be associated with a c.248G→A (G83E) variation, suggesting the existence of a founder effect. By contrast, the presence of the same aberration in three different ethnic groups could imply that this particular site is prone to mutation. Basal fasting concentrations of growth hormone, insulin-like growth factor-1, and insulin-like growth factor binding protein-3, as well as glucose and insulin levels revealed no aberrations. In conclusion, consideration of this rare disease that causes significant morbidity with short stature, osteopenia and arthritic complaints would prevent unnecessary examinations and treatment attempts. Testing for this specific mutation in suspected cases could provide a rapid and definitive diagnosis.

March 16, 2011

Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

Nazlı Gonc, Ozlem Engiz, Hartmut P.H. Neumann, Huseyin Demirbilek, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir

Page range: 109-112

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.

Hot Topic

March 1, 2011

Growth hormone and mortality: the anatomy of a global scare

Zvi Zadik

Page range: 113-114

Abstract

No abstract available

Meetings

March 1, 2011

Meetings Calendar

Page range: 115-115

Abstract

No abstract available

About this journal

Objective
The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers). JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.

Topics

Pediatric endocrinology
Pediatric diabetes
Inherited metabolic diseases

Article formats

Original Research, Reviews, Mini Reviews, Opinion Papers, Case Report, Short Communications, Letters to the Editor (including comments on published papers)

Volume 24 Issue 1-2

Issue of Journal of Pediatric Endocrinology and Metabolism

Publisher's Note

Abstract

Sex steroid priming for growth hormone (GH) provocative tests: an endless debate with insufficient solution

Abstract

Not ready for prime time

Abstract

Sex hormone priming

Abstract

Pros of priming in the diagnosis of growth hormone deficiency

Abstract

Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant

Abstract

The influence of an educational program on the HbA1c-level of adolescents with type 1 diabetes mellitus: a retrospective study

Abstract

Contribution of clinical, metabolic, and genetic factors on hypertension in obese children and adolescents

Abstract

Hyperphosphatemic tumoral calcinosis: a 10-year follow-up

Abstract

Vitamin D deficiency and insulin resistance in obese African- American adolescents

Abstract

Evaluation of children with nutritional rickets

Abstract

The effects of delivery route and anesthesia type on early postnatal weight loss in newborns: the role of vasoactive hormones

Abstract

Abdominal obesity is associated with cardiovascular risk in Japanese children and adolescents

Abstract

PPAR-γ2 Pro12Ala polymorphism is associated with post-challenge abnormalities of glucose homeostasis in children and adolescents with obesity

Abstract

The relationship between pubertal gynecomastia, prostate specific antigen, free androgen index, SHBG and sex steroids

Abstract

Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy

Abstract

The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes

Abstract

The frequency of Hashimoto thyroiditis in children and the relationship between urinary iodine level and Hashimoto thyroiditis

Abstract

The relationship between serum phosphate levels with childhood obesity and insulin resistance

Abstract

The relationship of salivary and cord blood cortisol inpreterm infants

Abstract

A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormonefor idiopathic short stature

Abstract

Benign transient hyperphosphatasemia in infants and children: a prospective cohort

Abstract

Carotid arterial stiffness in overweight and obese Indian children

Abstract

Association study in Taiwanese girls with precocious puberty

Abstract

A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy

Abstract

Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

Abstract

Growth hormone and mortality: the anatomy of a global scare

Abstract

Meetings Calendar

Abstract

The influence of an educational program on the HbA_1c-level of adolescents with type 1 diabetes mellitus: a retrospective study