- [Show abstract] [Hide abstract] ABSTRACT: Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders resulting from the deficiency of enzymatic activity for the synthesis of cortisol and mineralocorticoid. There are different clinical forms of CAH regarding to enzymatic activity. This disease is classified in 2 main groups as classical and non classical. In classical type, the most severe form comprises both salt-wasting and simple virilising forms. In the non classical form, diagnosis can be more confusing because it may be asymptomatic or associated with sings of androgen excess in postnatal or even adult period. In this article, clinical findings, symptoms, diagnostic and treatment approaches and the processes of non-classical CAH types will be reviewed.
- [Show abstract] [Hide abstract] ABSTRACT: Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency (GKD) and severe adrenocortical deficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and 17-hydroxyprogesterone levels below 10 ng/ml; they were both found to have Xp21.2 deletions. We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation.
- [Show abstract] [Hide abstract] ABSTRACT: Gonadotropin-releasing hormone analogues are common treatment option in central precocious puberty in childhood and endometriosis, infertility and prostate cancer in adults. Pseudotumor cerebri is a rare side effect observed in adults. We presented a girl had precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after 4th dose. She had headaches and her blood pressure detected > 99 percentile. There were no causes underlying of hypertension such as cardiac, renal or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was detected elevated. Triptorelin therapy was ceased and CSF pressure back to normal. We observed pseudotumor cerebri after the puberte precocious treatment, for the first time ever seen in childhood.
- [Show abstract] [Hide abstract] ABSTRACT: Objective: The burdens imposed on a child and his/her parents by treatment of type 1 diabetes mellitus (T1DM) adversely affect health-related quality of life (HRQoL). However, HRQoL is important for prognosis and is related to metabolic control. To evaluate the HRQoL of Turkish children and adolescents with T1DM and to identify the effects of HRQoL subscales including physical and psychosocial health on metabolic control, particularly hypo- and hyperglycaemic episodes. Methods: This cross-sectional study included 70 participants with T1DM aged between 8-18 years (study group) and 72 healthy controls who were matched to the study group in terms of age, gender and sociodemographic characteristics (control group), and their parents. HRQoL was determined by the Paediatric Quality of Life Inventory (PedsQL). As an indicator of metabolic control, the most recent haemoglobin A1c (HbA1c) levels were obtained and the number of hypo- and hyperglycaemic episodes over the last one month were checked. Results: The study group had similar HRQoL scores for children's self-reports and parents' proxy-reports to the control group apart from decreasing psychosocial health score for parents' proxy-reports in the study group. Although HbA1c level was not related to HRQoL scores, lower number of hypo- and hyperglycaemic episodes were associated with the increase in psychosocial health scores and physical health scores as well as total score for parents' proxy-reports, respectively. Conclusion: Although there was no correlation between metabolic control and HRQoL in children's self-reports, the improving HRQoL levels in parents' proxy-reports were associated with good metabolic control.
- [Show abstract] [Hide abstract] ABSTRACT: Objective: Body mass index, waist circumference, neck circumference (NC), mid-upper arm circumference and waist-height ratios were used as a reliable parameter for risk assessment. The aim of this study was to establish the association between anthropometric parameters and non-alcoholic fatty liver disease (NAFLD) and to determine the most reliable measurement as a parameter in predicting NAFLD. Methods: Two-hundred fifty-three obese children were enrolled (10-18 years old) in this study. Anthropometric parameters were measured. Fasting blood glucose, insulin, lipids levels and liver function tests were recorded. NAFLD was determined by ultrasound. Results: Most of the metabolic parameters and all of the anthropometric measurements were significantly higher in children with NAFLD. A univariate logistic regression analysis was performed, taking NAFLD status as the dependent variable and anthropometric parameters as the independent variables. NAFLD was affected significantly by the anthropometric values. The multiple logistic regression analysis showed that only NC determined the risk in both genders. Each 1 cm increase in the NC increased 1,544-fold (p <0.001, 95% CI: 1.357-2.214) and 1,733-fold (p = 0.001, 95% CI: 1.185-2.012) the risk of NAFLD in boys and girls, respec-tively. Receiver operating characteristic (ROC) analysis was performed to compare the relia-bility of anthropometric measurements. NC was observed to be a better indicator. Conclusion: Measurement of the NC was shown to be associated with NAFLD in children. We suggest the use of NC as a novel, simple, practical, and reliable anthropometric index in predicting children at risk for NAFLD.
- [Show abstract] [Hide abstract] ABSTRACT: Introduction Growth hormone resistance defines several genetic (primary) and acquired (secondary) pathologies that result in completely or partially interrupted activity of growth hormone. An archetypal disease of this group is the Laron-type dwarfism caused by mutations in growth hormone receptors. The diagnosis is based on high basal levels of growth hormone, low insulin like growth factor-I (IGF-1) level, unresponsiveness to IGF generation test and genetic testing. Recombinant IGF-1 preparations are used in the treatment Conclusion In this article, clinical characteristics, diagnosis and therapeutic approaches of the genetic and other diseases leading to growth hormone insensitivity are reviewed.
- [Show abstract] [Hide abstract] ABSTRACT: To investigate the efficacy and safety of n-3 polyunsaturated fatty acids (PUFA) treatment in obese children with nonalcoholic fatty liver disease (NAFLD). One hundred and eight obese (body mass index (BMI) >95th percentile for age and sex) adolescents with NAFLD were included in the study. Mean age of the subjects was 13.8±3.9 years (9-17 yrs). The diagnosis of NAFLD was based on the presence of liver steatosis with high transaminases. The subjects were randomly divided into two groups. Group 1 (PUFA group, n=52) received a 1000 mg dose of PUFA once daily for 12 months and lifestyle intervention. Group 2 (placebo group, n=56) received a recommended diet plus placebo and lifestyle intervention for 12 months. Insulin resistance was evaluated by homeostasis model assessment of insulin resistance (HOMA-IR) from fasting samples. BMI, fasting insulin levels and HOMA-IR values in both groups decreased significantly at the end of the study. In group 1, 67.8% of the patients had a decrease from baseline in the prevalence of steatosis (p<0.001). Frequency of elevated alanine aminotransferase (ALT) levels (39.2% to 14.2%; p<0.01) and elevated aspartate aminotransferase (AST) levels (25% to 17.8%; p=0.01) decreased significantly in the PUFA group. Following a 12-month diet plus placebo and lifestyle intervention treatment, 40.3% (21) of the patients in the placebo group also showed a decrease in frequency of steatosis (p=0.04) and slight decreases in frequency of elevated ALT levels (38.4% to 28.8%; p=0.01) and AST levels (30.7% to 28.8%; p>0.05). Our results indicated that n-3 PUFA treatment is safe and efficacious in obese children with NAFLD and can improve ultrasonographic findings and the elevated transaminase levels.
- [Show abstract] [Hide abstract] ABSTRACT: Abstract Gonadotropin-releasing hormone analogues are used in the treatment of prostate cancer, breast cancer, endometriosis, and uterine leiomyomas in adults and often in the treatment of precocious puberty in children. Many adverse effects have been reported for gonadotropin-releasing hormone analogues, but anaphylaxis is rarely reported as an adverse effect. Frequent cross-reactions, particularly during childhood, and diversity of the time of onset of anaphylactic manifestations complicate the diagnosis. A patient who exhibited anaphylactic allergic reactions to two different agents used in the treatment of central precocious puberty presented here because the case has an atypical course and is the first in the literature.
- [Show abstract] [Hide abstract] ABSTRACT: Aim To investigate metabolic syndrome (MetS) and MetS criteria, and to establish whether metabolic syndrome criteria were associated with non-alcoholic fatty liver disease (NAFLD) in obese children. Methods A total of 451 pubertal obese children (8–18 years old) were enrolled in the study. Patients were divided into three groups according to the degree of steatosis. Antropometric and laboratory measurements of the participants were recorded. Results Of 451 obese children, 217 (48.1%) were diagnosed as having NAFLD and 96 (21.3%) as having MetS. The frequency of abdominal obesity, hypertension, impaired fasting glucose, hyperinsulinemia, dyslipidemia and type 2 diabetes mellitus (T2DM) were 61.8% (279), 25.7% (116), 4.4% (20), 54.3% (245), 41% (185) and 2.2% (10), respectively. The prevalence of NAFLD among patients with MetS [73% (70/96)], was significantly higher than the frequency of hypertension [55% (53/96)] and abnormalities of glucose metabolism [23% (22/96)], but almost equal to the frequency of dyslipidemia [78% (75/96)]. The prevalence of MetS criteria were higher in patients with NAFLD than those without NAFLD. Except impaired fasting glucose, blood pressure and T2DM significant difference was found between groups for all. It was observed that the number of MetS criteria increased in parallel with the severity of steatosis. Conclusion NAFLD in obese children is strongly associated with multiple MetS criteria. In addition to NAFLD is not only a liver disease, but also early mediator that reflects metabolic disorder, and liver ultrasound can be a useful tool for MetS screening.
- [Show abstract] [Hide abstract] ABSTRACT: Aim: To investigate metabolic syndrome (MetS) and MetS criteria, and to establish whether metabolic syndrome criteria were associated with non-alcoholic fatty liver disease (NAFLD) in obese children. Methods: A total of 451 pubertal obese children (8-18 years old) were enrolled in the study. Patients were divided into three groups according to the degree of steatosis. Antropometric and laboratory measurements of the participants were recorded. Results: Of 451 obese children, 217 (48.1%) were diagnosed as having NAFLD and 96 (21.3%) as having MetS. The frequency of abdominal obesity, hypertension, impaired fasting glucose, hyperinsulinemia, dyslipidemia and type 2 diabetes mellitus (T2DM) were 61.8% (279), 25.7% (116), 4.4% (20), 54.3% (245), 41% (185) and 2.2% (10), respectively. The prevalence of NAFLD among patients with MetS [73% (70/96)], was significantly higher than the frequency of hypertension [55% (53/96)] and abnormalities of glucose metabolism [23% (22/96)], but almost equal to the frequency of dyslipidemia [78% (75/96)]. The prevalence of MetS criteria were higher in patients with NAFLD than those without NAFLD. Except impaired fasting glucose, blood pressure and T2DM significant difference was found between groups for all. It was observed that the number of MetS criteria increased in parallel with the severity of steatosis. Conclusion: NAFLD in obese children is strongly associated with multiple MetS criteria. In addition to NAFLD is not only a liver disease, but also early mediator that reflects metabolic disorder, and liver ultrasound can be a useful tool for MetS screening.
- [Show abstract] [Hide abstract] ABSTRACT: There are close interactions among the developing oral cavity, pituitary gland, and central nervous system (CNS) in early embryonic life. In this study we aimed to screen endocrine abnormalities in patients with orofacial clefts in the neonatal period. Thirty-one patients with isolated orofacial median clefts wereincluded in the study. Pituitary, thyroid, and adrenal hormones were measured at the first week and remeasured in the third or fourth weeks. Imaging studies were done for detection of CNS anomalies in all patients. Endocrine abnormality was detected in 22 (70.9%) patients. The number of patients with single and multiple endocrine abnormalities were 13 (41.9%) and 9 (29%), respectively. Thyroid hormone-related disorders were detected in 10 (32.3%) patients. Growth hormone deficiency was detected in 4 (12.9%) patients. Adrenocorticotrophic hormone and/or glucocorticoid deficiency was detected in 5 (16.1%) patients. Neonatal hypoglycemia due to endocrinological abnormalities was detected in 6 (19.4%) patients. Defected mini-puberty was seen in 2 (15.4%) patients. There was no relationship between the types of orofacial cleft and endocrine abnormalities. Endocrinological evaluation of the patients with orofacial clefts in the neonatal period is a worthwhile endeavor to detect hormone deficiencies regardless of the type of the cleft.
- [Show abstract] [Hide abstract] ABSTRACT: Micropenis is a medical diagnosis based on correct measurement of length. If stretched penile length is below the value corresponding to - 2.5 standard deviation of the mean in a patient with normal internal and external male genitalia, a diagnosis of micropenis is considered. Micropenis can be caused by a variety of factors including structural or hormonal defects of the hypothalamic-pituitary-gonadal axis. It can also be a component of a number of congenital syndromes. For the etiological evaluation, endocrinologic tests are important. This article reviews the etiology, diagnosis, treatment and management of micropenis. Conflict of interest:None declared.
- [Show abstract] [Hide abstract] ABSTRACT: Although head trauma is common in childhood, there is no enough prospective study investigating both acute phase and 12 months after injury. Therefore, a prospective clinical trial was planned to evaluate the pituitary function in childhood in the acute and chronic phase after traumatic brain injury (TBI). Forty-one children (27 boys and 14 girls, mean age 7 ± 4.3), who were admitted to neurosurgery intensive care unit due to head trauma, were included. Twenty-one (51.2 %) patients had mild, 10 (24.4 %) had moderate, and 10 (24.4 %) had severe TBI. Twenty-two of them were reevaluated 12 months after TBI. Basal pituitary hormone levels were measured during acute (first 24 h) and chronic phase of TBI. Additionally, in the chronic phase, GHRH-arginine test was used for the diagnosis of growth hormone (GH) deficiency. In the acute phase, 10 patients (24.4 %) had ACTH deficiency, and the overall 44.3 % of patients had at least one pituitary hormone dysfunction. All the pituitary hormone deficiencies during the acute phase were recovered after 12 months. Two patients (9.1 %) had new-onset GH deficiency in the chronic phase, and in one of them, ACTH deficiency was also present. Present prospective data clearly demonstrated that most of the hormonal changes in the early acute phase were transient, suggesting an adaptive response, and these changes did not predict the hormone deficiencies after 1 year. In the chronic phase, although GH deficiency was present, the frequency of TBI-induced hypopituitarism was clearly lower than the adult patients.
- [Show abstract] [Hide abstract] ABSTRACT: Background: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient. Case: Here, we report a case of a 12-month-old girl who showed breast development that became apparent in the last 3 months. Her medical history revealed that she was given two to three teaspoons of fennel tea by her mother every day for restlessness for the last 6 months. Isolated premature thelarche was diagnosed based on physical and laboratory findings. On follow-up, after cessation of fennel consumption, the breast development of the patient regressed gradually and became normal by the end of 1 year. Conclusion: Reporting this case, we want to emphasize the importance of awareness of fennel tea, a commonly used plant in babies, as a preventable cause of premature thelarche.
- [Show abstract] [Hide abstract] ABSTRACT: Objective: Head trauma is a clinical condition including a number of conditions, ranging from scalp injury to severe brain damage. In various adult studies, it was shown that pituitary dysfunction may develop in the acute phase after traumatic brain injury (TBI). However, in pediatric cases, there are few studies on this issue. This study aims to examine the effects of acute TBI on the HPA axis and thyroid axis during the pediatric period. Materials and Methods: The study includes 30 TBI cases admitted to the Neurosurgery Intensive Care Unit. Trauma severity was measured by GCS. In the first 24 hours, blood samples were taken to measure basal hormone levels (TSH, T3, T4, ACTH and Cortisol). Results: In 7 (23.3%) out of 30 cases ACTH deficiency; in 4 (13.3%) cases TSH deficiency and in 11 cases (36.6%) euthyroid-sick syndrome was found. There was no correlation between the trauma severity and hormonal deficiency, but a positive correlation was present between ACTH and Cortisol. Conclusion: This study showed that, in children admitted due to head trauma, pituitary hormonal dysfunction might develop in the acute phase after TBI. Early diagnosis of the existence of such critical conditions, particularly adrenal deficiency, may be life-saving.
- [Show abstract] [Hide abstract] ABSTRACT: Aim: To observe change in waist circumference (WC) over 3 years in children and adolescents and to compare these data with local and international references. Subjects and methods: The data of the second study determining the anthropometric measurements of Turkish children and adolescents (DAMTCA-II) were used to calculate WC percentiles. A total of 4234 children and adolescents aged 6-17 years (1890 boys and 2344 girls) were enrolled. The 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th and 97th percentiles and z-scores were computed by the LMS Method. Results: The mean WC was significantly higher in boys than in girls in 12.5, 13 and 15-17 year old children (p < 0.001). The prevalence of central obesity (WC ≥ 90th percentile) was 13.5% (14.3% in boys and 12.9% in girls, respectively). There was no significant difference in prevalence of abdominal obesity, between each gender (p = 0.179) and age group from 6-17 years (p = 0.590). In a comparison with the available contemporary international references, the 50th percentiles of these references were similar to those in Bulgaria, but markedly higher than those of Malaysian children and of Chinese children living in Hong Kong. Conclusions: The prominent finding of this study was the significant increase in WC percentiles in a short time in both genders. In addition, the WC references are similar to other regional references, but significantly higher than those of East Asia.
- [Show abstract] [Hide abstract] ABSTRACT: An association between low birth weight, insulin resistance (IR), dyslipidemia, and atherogenesis has been shown in girls with precocious adrenarche (PA). To evaluate whether girls with PA born appropriate for gestational age (AGA) have increased risk for metabolic complications at initial evaluation. We conducted a cross-sectional study on 69 AGA born girls with PA (mean (±s.d.) age 7.1±1 years) and 45 body mass index (BMI)- and waist circumference (WC)-matched prepubertal peers born AGA (mean (±s.d.) 7.5±1.9 years). A standard 2-h oral glucose tolerance test with insulin sampling was performed. Fasting plasma lipids and high-sensitivity C-reactive protein were analyzed, and blood pressure was recorded. Insulin sensitivity (IS) index (ISIcomp), homeostasis model assessment of IR, and atherogenic index (AI) (triglycerides/high-density lipoprotein cholesterol) were calculated. The study was performed at University Hospital. AI was significantly lower in girls with PA than in controls (P<0.001), and it was correlated with BMI SDS (r=0.44, P=0.001) and WC (r=0.39, P=0.001). The significant correlation of AI with ISIcomp (r=-0.38, P=0.001) disappeared after correcting for BMI (r=-0.185, P=0.16). Multivariate regression analysis revealed that DHEAS was the only significant parameter influencing AI in girls with born AGA (R (2)=0.475 β=-0.018, P=0.0001). Metabolic screening in prepubertal AGA born girls with PA may yield favorable lipid profiles. AI in girls with PA is increased in relation to decreasing IS and increasing BMI and WC. DHEAS seems to have the most significant effect on AI.
- [Show abstract] [Hide abstract] ABSTRACT: Waist circumference, a proxy measure of abdominal obesity, is associated with cardio-metabolic risk factors in childhood and adolescence. Although there are numerous studies about waist circumference percentiles in children, only a few studies cover preschool children. The aim of this study was to develop age- and gender-specific waist circumference smoothed reference curves in Turkish preschool children to determine abdominal obesity prevalence and to compare them with reference curves obtained from different countries. The design of the study was cross-sectional. A total of 2,947 children (1,471 boys and 1,476 girls) aged 0-6 years were included in the study. The subjects were divided according to their gender. Waist circumference was measured by using a standardized procedure. The age- and gender-specific waist circumference reference curves were constructed and smoothed with LMS method. The reference values of waist circumference, including 3rd, 10th 25th, 50th, 75th, 90th, and 97th percentiles, and standard deviations were given for preschool children. Waist circumference values increased with age, and there were differences between genders. The prevalence of abdominal obesity was calculated as 10.1 % for boys and 10.7 % for girls. Having compared our data with two other countries' data, we found that our waist circumference data were significantly lower. This is the first cross-sectional study for age- and gender-specific references of 0- to 6-year-old Turkish children. The gender- and age-specific waist circumference percentiles can be used to determine the risk of central obesity.
- [Show abstract] [Hide abstract] ABSTRACT: Objective: Intrauterine growth references are primarily useful indicators in the assessment of the general health status of newborn infants. Although Lubchenco’s references are still used in many neonatal care units, we believe that there is a need for up-to-date intrauterine growth references specific for different populations. To develop gestational age-and gender-specific national references for birth weight, birth length and head circumference. Methods: Data were collected from neonatal records of perinatology services of eleven hospitals from January to December 2009. The anthropometry of a total of 4750 singleton live births born between 28 and 41 weeks of gestation were recorded. Means and standard deviations were calculated, and percentiles for each gender and gestational week were produced using the LMS program. The results were compared with US infants and also with local data. Results: Gestational age- and gender-specific 3rd, 5th, 10th, 15th, 25th, 50th, 75th, 85th, 90th, 95th and 97th percentile values were produced. Comparison of the 10th, 50th and 90th percentile values showed that the boys were heavier and longer than the girls. Head circumference values were also higher in the boys. Proportions of small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA) infants in the sample were 10.1%, 79.1% and 10.8%, respectively. Conclusion: These gender- and gestational age-specific references will be of use in clinical practice and also for research purposes until more comprehensive, reliable and accessible national data pertaining to the intrauterine growth of Turkish infants are produced. Conflict of interest:None declared.
- [Show abstract] [Hide abstract] ABSTRACT: This study explores in a group of obese children and adolescents aged 10 to 16 years, the prevalence of metabolic syndrome (MS) according to the criteria of International Diabetes Federation (IDF). In addition, the prevalence of insulin resistance (IR) was investigated to find correlations between MS and IR. IDF definition was compared to a modified WHO definition. A total of 159 obese patients (74 male and 85 female; median age 12.7 years) were included in the study. Anthropometric measurements, blood pressure, and serum fasting lipids were evaluated. An oral glucose tolerance test (OGTT) was performed, and serum glucose and insulin levels were measured at 0, 30, 60, 90, and 120 min. Homeostasis model assessment of insulin resistance (HOMA-IR), quantitative insulin sensitivity check index (QUICKI), fasting glucose/insulin ratio (FGIR), Matsuda index, and total insulin levels during OGTT were calculated. For the IR diagnosis, we used cutoff values described in previous publications (HOMA-IR of >3.16, QUICKI of <0.357, FGIR of <7, and/or the sum of insulin levels during OGTT of >300 mIU/mL). MS prevalence, defined according to IDF criteria, was 34.6 %. Using the IDF definition, there was no statistically significant difference for the surrogate IR indices between patients with or without MS (QUICKI, 94.5 vs. 83.7 %), FGIR (81.1 vs. 78.8 %), HOMA-IR (70.9 vs. 63.5 %), and total insulin levels during OGTT (61.8 vs. 51.9 %). The Matsuda index values, the prevalence of fasting hyperinsulinemia, and impaired glucose tolerance were also similar in these two groups. In conclusion, IR was prominent in obese patients with and without MS. IDF definition of MS fails to discover individuals with IR, unless it is specifically investigated.
Melikgazi, Kayseri, Turkey
- Faculty of Medicine