|1.||Revised Youre Welcome Criteria and Future Developments in Adolescent Healthcare|
Dougal S. Hargreaves
doi: 10.4274/jcrpe.v3i2.10 Pages 43 - 50
In 2011, the Department of Health (England) will publish revised Youre Welcome criteria. This is the first comprehensive attempt to define good quality health services for young people (11-19 years) and provide a self-assessment tool applicable to all adolescent health services. It builds on a growing understanding of the distinctiveness and importance of adolescent health, and the demands placed on adolescent health services. This article reviews changing understandings of the nature of adolescence, including physical, psychological and social transition, evolving patterns of morbidity and mortality, adolescence as part of a life-course approach to health and health behaviours, and the specific needs of young people when using health services. We describe key features of the You're Welcome criteria and discuss the views of young people and professionals involved in revising them, as well as relevant published literature. Lastly, we discuss how the perspective of social paediatrics may be useful in guiding professionals towards a more holistic approach to adolescent care in the future.
|2.||Thyroid Hormones and Growth in Health and Disease|
doi: 10.4274/jcrpe.v3i2.11 Pages 51 - 55
Thyroid hormones regulate growth by several mechanisms. In addition to their negative feedback effect on the stimulatory hormones thyrotropin-releasing hormone (TRH) and thyrotropin (TSH), thyroid hormones also regulate their receptors in various physiological and pathological conditions. Up-regulation and down-regulation of the thyroid receptors fine-tune the biological effects exerted by the thyroid hormones. Interestingly, the deiodinase enzyme system is another intrinsic regulator of thyroid physiology that adjusts the availability of thyroid hormones to the tissues, which is essential for normal growth and development. Almost all chronic diseases of childhood impair growth and development. Every disease may have a unique mechanism to halt linear growth, but reduced serum concentration or diminished local availability of thyroid hormones seems to be a common pathway. Therefore, the effects of systemic diseases on thyroid physiology must be taken into consideration in the evaluation of growth retardation in affected children.
|3.||Renal Anomalies Associated with Ectopic Neurohypophysis|
Samim Özen, Damla Gökşen Şişmek, Asan Önder, Şükran Darcan
doi: 10.4274/jcrpe.v3i2.12 Pages 56 - 59
Objective: Although the etiology of ectopic neurohypophysis that leads to pituitary hormone deficiencies is not yet clearly understood, birth trauma or genetic factors have been considered responsible. Concurrent cranial and extracranial congenital anomalies have been reported in such cases. The aim of the present study was to investigate the frequency of renal anomalies in nonsyndromic cases with ectopic neurohypophysis.
Methods: We retrospectively evaluated the medical records of 20 patients with ectopic neurohypophysis who were followed up between January 1990 and December 2007 in a tertiary University Hospital.
Results: Renal anomalies were identified in three (15%) cases including unilateral renal agenesis in one case, renal hypoplasia in one case, and double collecting system and unilateral renal agenesis in one case.
Conclusions: In the present study, the increased frequency of renal anomalies in cases of ectopic neurohypophysis was highlighted, and it was emphasized that there might be common genetic factors that lead to such associations.
|4.||Cardiac Autonomic Functions in Obese Children|
Mehmet Emre Taşçılar, Mehmet Yokuşoğlu, Mehmet Boyraz, Oben Baysan, Cem Köz, Ruşen Dündaröz
doi: 10.4274/jcrpe.v3i2.131 Pages 60 - 64
Objective: The autonomic nervous system is assumed to have a role in the pathophysiology of obesity. In this study, we evaluated the autonomic system by measuring heart rate variability (HRV) in obese children.
Methods: Thirty-two obese and 30 healthy children (mean ages: 11.6±2.0 years and 11.0±2.9 years, respectively) were enrolled in the study. Obesity was defined as a body mass index higher than 97th percentile for age- and gender-specific reference values. All participants were free of any disease and none of them was receiving any medication. Twenty-four-hour ambulatory electrocardiographic recordings were obtained and the time-domain and frequency-domain indices of HRV were analyzed. The study group was evaluated with respect to insulin resistance by HOMA-IR values.
Results: A significant decrease in calculated HRV variables was observed in obese children as compared to controls. The HRV alteration was found in both time-domain and frequency-domain parameters. The subgroup analysis of the study group revealed a significant decrease in all investigated HRV parameters in the insulin-resistant obese children compared to the non-insulin-resistant obese ones.
Conclusions: Our results indicate that HRV is decreased in obese children, which implies parasympathetic withdrawal and sympathetic predominance. A marked decrease in HRV was observed in insulin-resistant obese children compared to their non-insulin-resistant counterparts. We propose that autonomic imbalance pertaining especially to insulin resistance may be involved in the pathogenesis of obesity in pediatric patients
|5.||Clinical Course of Hyperprolactinemia in Children and Adolescents: A Review of 21 Cases|
Erdal Eren, Şenay Yapıcı, Esra Deniz Papatya Çakır, Latife Aytekin Ceylan, Halil Sağlam, Ömer Tarım
doi: 10.4274/jcrpe.v3i2.14 Pages 65 - 69
Objective: Hyperprolactinemia may be due to various etiological factors and may present with different signs and ptoms. It is relatively less frequent in childhood than in adulthood. The aim of this study was to evaluate retrospectively the clinical course and outcome of hyperprolactinemia in pediatric patients.
Methods: We investigated the records of 21 patients with hyperprolactinemia who attended a tertiary hospital.
Results: Menstrual problems, galactorrhea, and headache were the most common presenting symptoms. Hyperprolactinemia was due to microadenoma in 10, macroadenoma in 7, and was drug-induced in 4 patients. Bromocriptine and cabergoline were equally effective in lowering serum prolactin levels. Surgical treatment in children with macroprolactinoma was not curative and dopamine agonist therapy was required postoperatively.
Conclusion: In the presence of any clinical symptom or sign suggestive of suppression of the pituitary-gonadal axis, hyperprolactinemia should not be forgotten as a probable diagnosis. Medical therapy seems effective in microadenoma. Surgical therapy may not be successful in macroadenoma and recurrence is frequent.
|6.||Prevalence of Metabolic Syndrome in Obese Children and Adolescents using Three Different Criteria and Evaluation of Risk Factors|
Özlem Sangun, Bumin Dündar, Muhammet Köşker, Özgür Pirgon, Nihal Dündar
doi: 10.4274/jcrpe.v3i2.15 Pages 70 - 76
Objective: To compare the prevalence of the metabolic syndrome (MS) in Turkish obese children and adolescents by using three different definitions and to assess the risk factors through a retrospective evaluation of anthropometric and laboratory parameters.
Methods: Sixty hundred and fourteen obese patients (307 male, 307 female; mean age: 11.3±2.5 years) were included in the study. Medical history, physical examination, anthropometric measurements, results of biochemical and hormonal assays were obtained from the hospital records. MS was diagnosed according to the modified World Health Organization (WHO), Cook and the International Diabetes Federation (IDF) consensus criteria. Results: The prevalence of MS was found to be 39%, 34% and 33% according to the modified WHO, Cook and the IDF consensus criteria, respectively. MS prevalence in patients aged 12-18 years was significantly higher than that in patients between 7 and 11 years of age (p<0.05). Pubertal patients had a significantly higher MS prevalence than the non-pubertal cases (p<0.05). MS prevalence was also significantly higher in children who had a family history of heart disease, diabetes, obesity and hypertension as well as in those who had not been breast-fed (p<0.05).
Conclusion: The use of the modified WHO criteria was found to result in a slightly higher prevalence rate for MS as compared to the other criteria. The prevalence of MS in our study population was higher than that reported in most previous studies in Turkey. A positive family history, puberty and not being breastfed in infancy were shown to be significant risk factors for MS in childhood.
|7.||Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development|
Sema Erdoğan, Cengiz Kara, Ahmet Uçaktürk, Murat Aydın
doi: 10.4274/jcrpe.v3i2.16 Pages 77 - 83
Objective: In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of DSDs in our patient cohort.
Methods: We retrospectively reviewed the records of patients followed up during the past three years. The subjects were divided into three etiologic groups according to their karyotypes. The definite diagnoses in each subgroup were established by clinical and laboratory investigations including abdominopelvic imaging as well as basal and stimulated hormone measurements. Molecular genetic testing, except for CYP21A2 gene, could not be performed.
Results: Out of a total of 95 patients, 26 had sex chromosome DSD, 45 had 46,XY DSD and 24 had 46,XX DSD. The most common causes of DSDs were Turners syndrome (TS), congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS). There was a wide variation in age of presentation ranging from 1 day to 17.5 years with a mean of 6.5±6.5 years. The most frequent complaints at presentation were ambiguous genitalia, isolated perineal hypospadias and short stature.
Conclusion: The results of our study demonstrate that the new DSD classification system leads to a major change in the distribution of etiological diagnoses of DSDs, which is exemplified by the significant frequencies of TS and vanishing testes syndrome. This alteration expands the clinical spectrum and increases the mean age at diagnosis. However, the most common causes of ambiguous genitalia, such as CAH and AIS, remain unchanged. Further studies using molecular genetic analyses are needed to give a more precise distribution of etiologies of DSDs, especially in 46,XY patients.
|8.||Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age|
Bilgin Yüksel, M. Nuri Özbek, Neslihan Önenli Mungan, Feyza Darendeliler, Bahar Budan, Aysun Bideci, Ergün Çetinkaya, Merih Berberoğlu, Olcay Evliyaoğlu, Ediz Yeşilkaya, İlknur Arslanoğlu, Şükran Darcan, Ruveyda Bundak, Olcay Ercan
doi: 10.4274/jcrpe.v3i2.17 Pages 84 - 88
Objective: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age.
Methods: This study was designed as a multicenter project. Five hundred sixty-seven healthy children younger than 6 years of age from different geographical regions of Turkey, with weight and height values between the 10th and 90th percentiles according to the national standards were included in the study. In addition to anthropometric parameters, serum IGF-1 and IGFBP-3 levels were measured in all subjects.
Results: Although not statistically significant, the serum IGF-1 levels in infants at age 6 months were lower than those in infants at age 3 months. The IGF-1 levels showed a slow increase with age. Serum IGF-1 levels were lower in girls as compared to boys only at age 6 months. No correlation was found between either serum IGFBP-3 levels and body mass index (BMI) or serum IGFBP-3 and weight and height standard deviation scores (SDS). A weak correlation was observed between serum IGF-1 and IGFBP-3 concentrations.
Conclusions: The age- and gender-specific reference values for serum IGF-1 and IGFBP-3 reported in this study will aid in the diagnosis of GH deficiency and in the monitoring of children receiving GH treatment.
|9.||Thyroid Functions in Long-Term Survivors of Pediatric Hodgkins Lymphoma Treated with Chemotherapy and Radiotherapy|
Metin Demirkaya, Betül Sevinir, Halil Sağlam, Lütfi Özkan, Okan Akacı
doi: 10.4274/jcrpe.v3i2.18 Pages 89 - 94
Objective: Post-treatment endocrine disturbances are common in cancer patients who have received radiotherapy or chemotherapy. The objective of this study was to evaluate the thyroid functions of long-term survivors of pediatric Hodgkins lymphoma treated with chemotherapy and radiotherapy.
Methods: Thyroid functions of 55 Hodgkins lymphoma patients (M/F: 2.05/1) in complete remission were evaluated retrospectively.
Results: The mean age of the patients at diagnosis was 10.35±4.09 (range: 2.83-17) years and the mean follow-up period was 5.54±3.68 (range: 0.92-13.92) years. All patients received chemotherapy; a total of 50 patients (90.9%) underwent radiotherapy, 42 (76.4%) of whom received neck/mantle radiotherapy. Thyroid function tests were abnormal in 14 (24.5%) patients and normal - in the remaining 41 (74.5%). A diagnosis of subclinical and overt hypothyroidism was made in 11 (78.6%) and 3 (21.4%) patients with abnormal thyroid function tests, respectively. Nearly one-fourth (21.4%) of all thyroid function disorders were detected in the first year of follow-up. A statistically significant correlation was found between the dose of mantle radiotherapy and thyroid function disorder (p=0.002). In addition, statistically significant correlations were established between thyroid examination or thyroid ultrasonography findings and thyroid functions (p <0.001 or p=0.006, respectively).
Conclusions: Radiation-induced thyroid disorders may develop in pediatric Hodgkins lymphoma patients in complete remission starting as early as the first year after treatment and are dose-dependent. Patients, particularly those who have been exposed to radiotherapy of the neck, must be followed up closely for occurrence of thyroid dysfunctions.
|10.||Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties|
Bülent Hacıhamdioğlu, Merih Berberoğlu, Zeynep Şıklar, Figen Doğu, Pelin Bilir, Şenay Savaş Erdeve, Aydan İkincioğulları, Gönül Öçal
doi: 10.4274/jcrpe.v3i2.19 Pages 95 - 97
DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously recognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties.
|11.||Critical Points in the Management of Pseudohypoaldosteronism Type 1|
Tülay Güran, Serpil Değirmenci, İpek K. Bulut, Aysun Say, Felix G. Riepe, Ömer Güran
doi: 10.4274/jcrpe.v3i2.20 Pages 98 - 100
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.
|12.||Cystinosis Presenting with Findings of Bartter Syndrome|
Behzat Özkan, Atilla Çayır, Celalettin Koşan, Handan Alp
doi: 10.4274/jcrpe.v3i2.21 Pages 101 - 104
A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.