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1.  Adipokines in Breast Milk: An Update 
Epidemiological surveys indicate that nutrition in infancy is implicated in the long-term tendency to obesity and that a longer duration of breastfeeding is associated with a protective effect against metabolic disorders later in life. However, the precise cause of this association is not well understood. Recent studies on the compounds present in human breast milk have identified various adipokines, including leptin, adiponectin, resistin, obestatin, nesfatin, ghrelin and apelins. Some of these compounds are involved in the regulation of food intake and energy balance. The presence of these adipokines in breast milk suggests that they may be responsible for the regulation of growth in early infancy and that they could influence the energy balance and development of metabolic disorders in childhood and adulthood.
PMCID: PMC4293653  PMID: 25541889
Adipokines; breast milk; infant
2.  Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency 
Objective: Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD.
Methods: Ninety-six Turkish children with IGHD were included in this study. Exon1-13 and exon/intron boundaries of GHRHR were amplified by suitable primers. The polymerase chain reaction products for GHRHR gene were sequenced with primers.
Results: We analyzed the GHRHR gene for mutations in ninety-six patients with IGHD based on sequence results. We identified novel p.K264E, p.S317T, p.S330L, p.G369V, p.T257A and C base insertion on position 380 (c.380inserC) mutations. In 5 of the patients, the mutation was homozygote and in 1-heterozygote (p.S317T).
Conclusion: Six new missense mutations and one first case of insertion mutations for the GHRHR gene are reported.
PMCID: PMC4293654  PMID: 25541890
IGHD; GHRHR gene; short stature
3.  Mitochondrial ATPase Subunit 6 and Cytochrome B Gene Variations in Obese Turkish Children 
Objective: Due to the importance of energy metabolism in mitochondria, mitochondrial genome variations are evaluated in energy-related diseases such as obesity. To date, several nuclear genes were found to be related to obesity. Our aim in this study was to investigate the presence of polymorphisms in mitochondrial ATPase subunit 6 (mt-ATP6) and cytochrome b (mt-CytB) genes that may be associated with childhood obesity.
Methods: The mt-ATP6 and mt-CytB genes were amplified and entirely sequenced in a series of 100 obese and in an equal number of healthy Turkish children aged between 6-14 years.
Results: A total of 118 synonymous and nonsynonymous variations were detected in the obese and control groups. Only two previously reported synonymous substitutions (mt.8614T>C and mt.8994G>A) in the mt-ATP6 gene were found to be significantly higher in the obese group compared to the control group (p<0.05). In the mt-ATP6 gene, one novel nonsynonymous substitution (mt.8726C>T) and one novel synonymous substitution (mt.9108A>T) were found. In the mt-CytB gene, one nonsynonymous substitution (mt.14880T>C) and two synonymous substitutions (mt.14891C>T and mt.15091C>T) were novel substitutions.
Conclusion: Two synonymous substitutions (mt.8614T>C and mt.8994G>A) in the mt-ATP6 gene may be associated with childhood obesity. Our study provides the first data about mitochondrial genome variations in a Turkish obese population and also the first in obese children. More cases should be screened in obese groups in order to understand the effects of mitochondrial polymorphisms in the development of obesity.
PMCID: PMC4293655  PMID: 25541891
Mitochondrial ATPase-6; mitochondrial cytochrome b; obesity; single nucleotide polymorphism
4.  Arm Anthropometry Indices in Turkish Children and Adolescents: Changes Over a Three-Year Period 
Objective: Time-related changes and comparisons for mid-upper arm circumference (MUAC), triceps skinfold thickness (TSF), arm fat area (AFA) are lacking for Turkish children and adolescents. To determine the arm anthropometry indices (MUAC, TSF, AFA) in children and adolescents and to also assess the changes in these indices over a 3-year time period.
Methods: The data of the Anthropometry of Turkish Children Aged 0-6 Years (ATCA-06) study and the Second Study of Determination of the Anthropometric Measurements of Turkish Children and Adolescents (DAMTCA-II) were used to calculate the arm anthropometry percentiles in a total group of 6982 children and adolescents aged 28 days to 17 years. The 3rd-97th percentiles were computed by the LMS method.
Results: In girls, 50th percentile MUAC values linearly increased with age. In boys, 50th percentile TSF values linearly increased until 10 years of age and decreased after age 11 years, while in girls, TSF values increased linearly with age. 50th percentile values for AFA showed a linear increase in both genders with age. Significant differences were found between the 5th, 50th and 95th percentile values for MUAC and AFA obtained in the two studies (DAMTCA-II and DAMTCA-I) in both boys and girls.
Conclusions: The prominent finding was the significant and alarming increase in arm anthropometry indices in both genders within as short period of time as three years.
PMCID: PMC4293656  PMID: 25541892
adolescents; arm fat area; Mid-upper arm circumference; triceps skinfold thickness; Turkish children
5.  Relationship Between Body Composition Parameters and Metabolic Syndrome in Young Thai Adults 
Objective: The aim of this study was to evaluate the relationship between body composition parameters, i.e. waist circumference, android fat mass (AFM), gynoid fat mass (GFM), android to gynoid fat mass ratio (AG ratio) and metabolic syndrome (MS) risk components in young Thai adults.
Methods: This was a cross-sectional study conducted among 391 adolescents (174 male, 217 female). The body mass index (BMI), waist circumference, blood pressure, triglyceride, high-density lipoprotein (HDL) cholesterol and glucose levels were determined. AFM, GFM and AG ratio were assessed by dual-energy X-ray absorptiometry (DXA). Linear regression analysis was done to assess the relationship of waist circumference, AFM, GFM and AG ratio with MS risk components’ score, separately.
Results: Among 391 young adults aged 18.5-21.8 years, MS was found in 5.9%. Participants with MS (n=23) had a significantly higher weight, height and BMI than those without MS. There was no statistically significant difference in bone mineral density between the two groups. At univariable linear regression analysis, waist circumferences, AFM, GFM and AG ratio showed significant relationship with MS risk components’ score. However, after adjusting for gender, birth weight and BMI, AG ratio demonstrated greater relationship with MS risk components’ score (β 1.89, 95%CI 1.096-2.978) than waist circumference (β 0.046, 95%CI 0.033-0.058) and AFM (β 0.979, 95%CI 0.667-1.290). No significant association was observed between GFM and MS risk components’ score (β 0.077, 95%CI -0.089-0.243).
Conclusion: The results from this study indicated that AG ratio is a stronger predictor of MS than waist circumference and AFM in young Thai adults. The role of AG ratio for the diagnosis of MS needs to be further investigated.
PMCID: PMC4293657  PMID: 25541893
metabolic syndrome; android fat mass; gynoid fat mass; android to gynoid fat mass ratio; dual-energy x-ray absorptiometry
6.  Growth Patterns of Children of Same Geographic Background Reared in Different Environments 
Objective: Growth charts are essential tools used to assess children’s health status. The aim of the present study was to determine the effect of environmental factors on the growth of children of a common geographic background. We constructed growth charts for children living in the East of Turkey and compared them with those for Turkish children living in other regions or countries.
Methods: Growth data were obtained from 6 917 school children living in Eastern Turkey. The median values on smoothed percentile curves for the study subjects were compared with those for Turkish children living in the West of Turkey, in Western Europe and in Germany.
Results: Children living in Turkey were lighter than their European peers at early ages. Weight curves of children living in the West of Turkey reached those of their European peers, after 11 years of age in boys and after 12 years of age in girls. At all ages, girls and boys in our region had the lowest weight values. Between 7 and 11 years of age, the median height in boys and girls were similar in the West of Turkey and in Europe. At older ages, median height was higher in Turkey. Girls and boys living in Eastern Turkey were the shortest children until 16 years of age; after that age, their height was similar to their peers.
Conclusions: Weight may interact with environmental factors, but genetic potential appears to be the most important factor determining height at 17 years of age. Growth patterns of children should be evaluated using specific reference values for specific regions.
PMCID: PMC4293658  PMID: 25541894
growth; children; weight; height; percentile
7.  The Effect of L-Thyroxine Treatment on Hypothyroid Symptom Scores and Lipid Profile in Children with Subclinical Hypothyroidism 
Objective: To evaluate i) the frequency of typical hypothyroidism symptoms in children with subclinical hypothyroidism (SH), ii) to evaluate the association of SH with lipoproteins and iii) to investigate possible improving effects of L-thyroxine (LT4) treatment on these findings.
Methods: Twenty-seven children with SH who had elevated thyroid-stimulating hormone (TSH: >4.94 µIU/L) but normal free T4 levels and healthy euthyroid children of similar age and sex were enrolled in the study. Anthropometric and laboratory (lipid profile and thyroid function tests) measurements were performed at diagnosis and six months after euthyroidism was achieved. All children were also subjected to a questionnaire on hypothyroid symptoms at diagnosis. The SH patients were subjected to the questionnaire also following treatment. Pre-treatment data were compared with those of controls and post-treatment measurements.
Results: Anthropometric and laboratory parameters of the groups were not statistically different except for higher TSH levels in the SH group. Serum lipoprotein levels and dyslipidemia frequency were similar between the groups. Compared to the controls, hypothyroidism symptom score was significantly higher in the SH group. Six months after euthyroidism was achieved, a significant reduction in the hypothyroid symptom score was obtained in the SH group. Except for significantly higher serum TSH values, no significant differences regarding demographic characteristics, symptom scores and lipid parameters were present between patients with Hashimoto’s thyroiditis and the remaining SH patients.
Conclusion: The results of this study showed that in children with SH i) the hypothyroidism symptom score was significantly higher than in euthyroid children, ii) LT4 treatment improved the hypothyroidism symptom score and iii) SH does not seem to be associated with dyslipidemia.
PMCID: PMC4293659  PMID: 25541895
Subclinical hypothyroidism; children; dyslipidemia; LT4; hypothyroid symptom score
8.  The Effects of Passive Smoking on the Six-Minute Walk Test in Obese Pediatric Cases 
Objective: The aim of this study was to evaluate whether exposure to second-hand smoke affected the six-minute walk test (6MWT) of obese non-asthmatic pediatric cases.
Methods: Obese pediatric patients (body mass index >95th p) with no existing co-morbidities were included in the study. Smoke exposure was assessed with a self-reported questionnaire completed by the parents. The subjects were divided into two groups: Group 1 consisting of obese children exposed to passive smoking and Group 2 of obese children not exposed to passive smoking. In addition to 6MWT, spirometric flow and volume, including forced expiratory volume in 1 s and peak expiratory flow rate, were also measured in all subjects. The results of the 6MWT were assessed to determine any association with passive smoking.
Results: The study included 75 obese pediatric cases (40 male, 35 female) with a mean age of 9.06±0.97 years. The 6MWT results in Group 1 was 501.88±62.12 meters and in Group 2 559.63±72.93 meters. The difference was statistically significant (p=0.001).
Conclusions: Passive smoking may negatively affect the respiratory and cardiovascular capacity in obese children, who are already at risk of lower cardiopulmonary function. The evaluation of 6MWT in these pediatric patients may be useful for monitoring and families should be warned about potential problems due to smoking.
PMCID: PMC4293660  PMID: 25541896
children; obesity; passive smoking; walking test
9.  Prepubertal Unilateral Gynecomastia: Report of 2 Cases 
Prepubertal unilateral gynecomastia is an extremely rare condition. At present, its etiology and management strategy are not well known. Two unrelated prepubertal boys of ages 8 and 9 who presented with complaints of unilateral enlargement of breast tissue are reported. Physical examination, biochemical, hormonal and oncologic work-up findings were normal. Both patients were treated with peripheral liposuction successfully. Histopathological and immunohistochemical examinations showed benign fibroglandular gynecomastia and intensive (3+) estrogen receptor expression in 100% of periductal epithelial cells. Although an extremely rare and generally benign condition, patients with prepubertal unilateral gynecomastia should have a full endocrine and oncologic work-up.
PMCID: PMC4293661  PMID: 25541897
gynecomastia; pubertal; prepubertal; unilateral
10.  ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity 
A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction.
PMCID: PMC4293662  PMID: 25541898
ROHHAD syndrome; obesity; hypothalamic dysfunction
11.  Importance of Insulin Immunoassays in the Diagnosis of Factitious Hypoglycemia 
We report two cases emphasizing the importance of insulin assays for evaluation of hypoglycemia in diabetic patients. Case 1 was a 96/12-year-old female patient with type 1 diabetes mellitus and case 2 was a 1010/12-year-old male patient with DIDMOAD. Both patients were on a basal-bolus insulin regimen. Both were admitted because of persistent hypoglycemia. Analyses of serum samples obtained at the time of hypoglycemia initially showed low insulin and C-peptide levels. Recurrent episodes of unexplained hypoglycemia necessitated measurement of insulin levels by using different insulin assays, which revealed hyperinsulinemic hypoglycemia with low C-peptide levels, findings which confirmed a diagnosis of factitious hypoglycemia. Surreptitious administration of insulin should not be excluded in diabetic patients with hypoglycemia without taking into account the rate of cross-reactivity of insulin analogues with the insulin assay used.
PMCID: PMC4293663  PMID: 25541899
type 1 diabetes mellitus; DIDMOAD; factitious hypoglycemia; recurrent hypoglycemia; insulin assay
12.  Atypical Presentation of Hashimoto’s Disease in an Adolescent: Thyroid-Associated Ophthalmopathy 
Hashitoxicosis is generally differentiated from Graves’ hyperthyroidism by its shorter course and absence of ophthalmopathy. In this case report, we describe an adolescent girl who presented with significant clinical findings of hyperthyroidism, a diffuse goiter with homogenously increased uptake in scintigraphy, and with ocular findings of ophthalmopathy. The thyroid stimulating hormone receptor antibody test was positive, and the family history revealed thyroid-associated ophthalmopathy. Clinical findings supported the diagnosis of Hashimoto’s disease (HD) in the follow-up period. Radioactive iodine uptake investigation was found to be a reliable method for differential diagnosis. Attention was drawn to the rarity of pediatric cases of HD who present with ophthalmopathy.
PMCID: PMC4293664  PMID: 25541900
Hashimoto’s disease; Graves’ disease; ophthalmopathy; children
13.  Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? 
IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.
PMCID: PMC4293665  PMID: 25541901
Intrauterine growth retardation; adrenal insufficiency; hypogonadism
14.  Overweight and Obesity in Children and Adolescents 
Obesity among children, adolescents and adults has emerged as one of the most serious public health concerns in the 21st century. The worldwide prevalence of childhood obesity has increased remarkably over the past 3 decades. The growing prevalence of childhood obesity has also led to appearance of obesity-related comorbid disease entities at an early age. Childhood obesity can adversely affect nearly every organ system and often causes serious consequences, including hypertension, dyslipidemia, insulin resistance, dysglycemia, fatty liver disease and psychosocial complications. It is also a major contributor to increasing healthcare expenditures. For all these reasons, it is important to prevent childhood obesity as well as to identify overweight and obese children at an early stage so they can begin treatment and attain and maintain a healthy weight. At present, pharmacotherapy options for treatment of pediatric obesity are very limited. Therefore, establishing a comprehensive management program that emphasizes appropriate nutrition, exercise and behavioral modification is crucial. The physician’s role should expand beyond the clinical setting to the community to serve as a role model and to advocate for prevention and early treatment of obesity.
PMCID: PMC4293641  PMID: 25241606
overweight; obesity; Pediatric; prevention; Diabetes; weight management; dyslipidemia; type 2 diabetes mellitus
15.  Thyroid Abnormalities in Survivors of Childhood Cancer 
Ob­jec­ti­ve: To investigate the late side effects of childhood cancer therapy on the thyroid gland and to determine the risk factors for development of thyroid disorder among childhood cancer survivors.
Methods: One hundred and twenty relapse-free survivors of childhood cancer (aged 6-30 years) were included in this study. The diagnoses of patients were lymphoma, leukemia, brain tumor, rhabdomyosarcoma and nasopharyngeal carcinoma (NPC). The patients were divided into two groups depending on the treatment: group 1-chemotherapy (ChT) only (n=52) and group 2-combination therapy of ChT + radiotherapy (RT) (head/neck/thorax) (n=68). Thyroid function tests, urinary iodine levels, and thyroid gland ultrasound examinations were evaluated in both groups.
Results: Incidence of thyroid disease was 66% (n=79) in the survivors. The thyroid abnormalities were: hypothyroidism (HT) (n=32, 27%), thyroid nodules (n=27, 22%), thyroid parenchymal heterogeneity (n=40, 33%), autoimmune thyroiditis (n=36, 30%), and thyroid malignancy (n=3, 2%). While the incidence of HT and thyroid nodules in group 2 was significantly higher than in group 1, the incidence of thyroid parenchymal heterogeneity and autoimmune thyroiditis was similar in the two patient groups. HT and thyroid malignancy were seen only in group 2. In multivariate logistic regression analysis, a history of Hodgkin lymphoma (HL), brain tumor and NPC, as well as cervical irradiation and 5000-5999 cGy doses of radiation were found to constitute risk factors for HT. History of HL and 4000-5999 cGy doses of radiation were risk factors for thyroid nodules. Head/neck irradiation and treatment with platinum derivatives were risk factors for autoimmune thyroiditis. In univariate analysis, a history of NPC, cervical + nasopharyngeal irradiation, and treatment with platinum derivatives were risk factors for thyroid parenchymal heterogeneity.
Conclusion: Our results indicate that there is especially an increased risk of HT and thyroid nodules in patients treated with combination therapy of ChT with head/neck/thorax RT. Although chemotherapeutic agents per se do not seem to cause HT, longer follow-up is needed to assess whether or not there is an increased risk for autoimmune thyroiditis and thyroid parenchymal heterogeneity after antineoplastic therapy.
PMCID: PMC4293642  PMID: 25241607
Childhood cancer survivors; Chemotherapy; Radiotherapy; Late effects; Thyroid
16.  Thyroid Function in Obese Children with Non-Alcoholic Fatty Liver Disease 
Ob­jec­ti­ve: To investigate the relationships between thyroid function and metabolic risk factors in obese adolescents with non-alcoholic fatty liver disease (NAFLD).
Methods: One hundred sixty obese adolescents and 40 control subjects were enrolled in the study. The obese subjects were divided into two groups based on presence or absence of liver steatosis (NAFLD group and non-NAFLD group). Serum samples were assayed for glucose, insulin, cholesterol, alanine aminotransferase, aspartate aminotransferase, free thyroxine (fT4), free triiodothyronine (fT3) and thyroid-stimulating hormone (TSH). The ratio of fT3 to fT4 was evaluated as an indirect index of deiodinase activity. Insulin resistance was evaluated by homeostasis model assessment (HOMA-IR) from fasting samples.
Results: NAFLD and non-NAFLD groups had slightly higher fasting blood glucose values than the control group. Fasting insulin levels in the NAFLD group were significantly higher than those in the non-NAFLD and control groups. The NAFLD group had significantly greater HOMA-IR values compared with the non-NAFLD group and also with the control group. The NAFLD group had significantly higher fT3/fT4 ratio values compared to both non-NAFLD and control groups. fT3/fT4 was positively correlated with serum insulin levels in the NAFLD group.
Conclusion: This study showed that obese adolescents with hepatosteatosis had elevated values for fT3/fT4 ratio. This finding suggested a high conversion of T4 to T3 due to increased deiodinase activity as a compensatory mechanism for fat accumulation.
PMCID: PMC4293643  PMID: 25241608
thyroid function; obesity; non-alcoholic fatty liver; insulin resistance
17.  Intraoperative Parathyroid Hormone Monitoring Corroborates the Success of Parathyroidectomy in Children 
Ob­jec­ti­ve: To assess the efficacy of intraoperative parathyroid hormone (PTH) monitoring in evaluating the outcome of parathyroidectomy in pediatric patients.
Methods: Intraoperative PTH monitoring during parathyroidectomy was performed in five children (3M, 2F); three had parathyroid adenomas (single gland disease) and two had primary hyperplasia. One patient had undergone two previous surgical interventions to remove the parathyroid glands, but the PTH levels had remained high with persistence of symptoms. Immunoradiometric analysis was used for PTH measurements. Preoperative PTH values were obtained to monitor the baseline levels. Serum samples were collected 20 minutes after removal of the adenoma/parathyroid gland(s) and PTH levels were compared with preoperative values. Specimens were also confirmed by frozen sectional examination.
Results: Mean age of the patients was 11 years (range: 3 months-16 years). Mean preoperative PTH values were 633.3±579 pg/mL (range: 143-1300
pg/mL). Intraoperative values decreased to 18.7±5.5 pg/mL (range: 8-27 pg/mL) following removal of the gland(s). Normal calcium levels were achieved with adequate management following surgery. One patient (with multiple surgeries and found to have an ectopic parathyroid gland) had hungry bone syndrome after the operation and was treated successfully. There were no major complications. All patients maintained normal calcium/phosphorus levels in the follow-up period, ranging from 2 to 5 years.
Conclusion: An ectopic parathyroid gland or another undetected adenoma can be overlooked during surgery. Owing to the short life of the hormone, intraoperative PTH monitoring to determine PTH clearance proved to be a feasible marker for adequacy and safety of surgery and “cure”.
PMCID: PMC4293644  PMID: 25241609
parathyroid hormone; hyperparathyroidism; Parathyroid adenoma; parathyroidectomy
18.  Serum Paraoxonase/Arylesterase Activity and Oxidative Stress Status in Children with Metabolic Syndrome 
Ob­jec­ti­ve: This study aimed to measure paraoxonase/arylesterase activities and to evaluate the total oxidant and antioxidant capacities in obese children and in children with metabolic syndrome (MetS).
Methods: A total of 151 children of comparable ages (13.23±1.96 years, 13.45±1.85 years and 13.95±1.31 years) were enrolled in the study. Forty of these were children with MetS, 55 were obese and 56 were healthy controls. Diagnosis of the MetS was made according to International Diabetes Federation criteria. Paraoxonase/arylesterase activities were evaluated by using paraoxon and phenylacetate substrates. Total oxidant status (TOS) and total antioxidant status (TAS) were measured and oxidative stress index (OSI) was estimated by calculation.
Results: High levels of paraoxonase were detected in the obese group, whereas high levels of arylesterase were detected in both MetS and obese groups. Higher values for TOS, TAS and OSI were found in the MetS group (p<0.05).
Conclusion: Higher values of mean TOS and OSI in the MetS group than those in the control groups indicate that these parameters may be indicators of future risks such as atherosclerosis in patients with MetS.
PMCID: PMC4293645  PMID: 25241610
metabolic syndrome; obesity; oxidative stress; paraoxonase
19.  One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism 
Ob­jec­ti­ve: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family.
Methods: Since CH is usually inherited in autosomal recessive manner in consanguineous/multi-case families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in linked-gene by Sanger sequencing.
Results: The family showed potential linkage to the TPO gene and we detected a deletion (c.2422delT) in both cases. The mutation segregated with disease status in the family.
Conclusion: This study demonstrates that a single base deletion in the carboxyl-terminal coding region of the TPO gene could cause CH and helps to establish a genotype/phenotype correlation associated with the mutation. The study also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.
PMCID: PMC4293646  PMID: 25241611
TPO gene; mutation; genetics; molecular; congenital hypothyroidism; thyroid dyshormonogenesis
20.  Extensive Middle Cranial Fossa Arachnoid Cysts and Different Clinical Presentation in Two Patients 
Arachnoid cysts (ACs), particularly suprasellar cysts, cause a wide spectrum of endocrine disorders. Herein, we report two patients diagnosed with an extensive AC in the middle cranial fossa while being investigated for etiologies of precocious puberty and short stature. One of them required surgery due to his pubertal disorders associated with compression effects of cyst. After surgery, his puberty progression was regressed within one year. On the other hand, surgery was not planned for the second patient considering of his cranial imaging findings and the extremely low incidence of growth hormone (GH) deficiency caused by middle fossa AC (MFAC). We started treatment with recombinant human GH and no complication was found during treatment follow-up. Endocrine disorders associated with MFACs are extremely rare. By presenting with these two cases, we aimed to remain our fellow physcians that ACs can be possibly cause of endocrine disorders. Clinicians should be careful evaluating endocrine disorders because real cause may not be cyst itself but masked by it.
PMCID: PMC4293647  PMID: 25241612
Extensive arachnoid cyst; Growth hormone deficiency; puberty precocious
21.  Unusual Course of Congenital Hypothyroidism and Route of the L-Thyroxine Treatment in a Preterm Newborn 
Congenital hypothyroidism (CH) is the most common endocrine pathology in neonates. Inappropriate treatment of CH is complicated by irreversible brain damage or low IQ score. Hormone replacement therapy with L-thyroxine (L-T4) is sufficient for a very large proportion of patients. However, during treatment, the patient needs to be carefully monitored for presence of factors which might affect the absorption or bio-availability of the drug as well as its dose. Herein, we report a preterm newborn with CH who presented with gastrointestinal problems mimicking necrotizing enterocolitis. The clinical course was also complicated by cholestasis. The L-T4 replacement treatment was switched from oral route to parenteral. After resolution of the cholestasis, L-T4 treatment was continued successfully by the oral route.
PMCID: PMC4293648  PMID: 25241613
congenital hypothyroidism; L-thyroxine; prematurity
22.  Transverse Testicular Ectopia: A Rare Presentation with Persistent Müllerian Duct Syndrome 
Undescended testes can be found in the inguinal channel or in the abdomen. Rarely, undescended testes can present with transverse testicular ectopia (TTE) and very rarely, with residual Müllerian duct (MD) structures. This latter presentation is called persistent MD syndrome (PMDS). PMDS is mostly discovered during surgery for inguinal hernia or cryptorchidism. TTE is a rare congenital anomaly in which both testes descend through a single inguinal canal. Patients with TTE present with symptoms of unilateral cryptorchidism and contralateral inguinal hernia. Herein, we report two TTE cases: one associated with PMDS and the other having only cross ectopia. For patients with inguinal hernia and cryptorchidism associated with TTE, PMDS should be kept in mind and radiologic evaluation with ultrasonography or magnetic resonance imaging of the genitourinary system and karyotyping are recommended. Radiologic evaluation can be helpful in the diagnosis of TTE; however, it cannot diagnose the malignancy itself. Laparoscopy is very useful for both diagnosis and treatment of TTE.
PMCID: PMC4293649  PMID: 25241614
Orchiopexy; persistent Müllerian duct syndrome; testis; transverse testicular ectopia
23.  A Case of Central Precocious Puberty Due to Concomitant Hypothalamic Hamartoma and Juvenile Pilocytic Astrocytoma 
Central precocious puberty (CPP) is caused by premature activation of the hypothalamo-pituitary-gonadal axis. More than 50% of boys with CPP have an identifiable etiology. Hypothalamic hamartoma (HH), hydrocephalus, tumors, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP. In this report, we present the case of a 2 years and 9 months old male patient who had a 30x40 mm contrast-enhancing suprasellar mass and was histopathologically diagnosed with giant HH. However, since HHs are designated as non-enhancing masses, considering the possibility of an incomplete diagnosis of a glial tumor, the patient was followed up. Clinical and radiological follow-up revealed stable findings with no evidence of tumor growth until the third year after surgery when he presented with neurological deficit due to the rapid growth of the suprasellar mass. After the second surgery, histopathological examination of the biopsy specimen revealed the lesion to be a juvenile pilocytic astrocytoma (PA). The concomitance of HH and juvenile PA is very rare. To our knowledge, this is the first report of a patient with concomitant juvenile PA and HH who developed CPP and did not have gelastic epilepsy despite the rapidly growing giant mass.
PMCID: PMC4293650  PMID: 25241615
Hypothalamic hamartoma; pilocytic astrocytoma; Central precocious puberty
24.  An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child 
Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy’s height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).
PMCID: PMC4293651  PMID: 25241616
short stature; Klinefelter syndrome; Growth hormone deficiency
25.  Variability of DKA Management Among Pediatric Emergency Room and Critical Care Providers: A Call for More Evidence-Based and Cost-Effective Care? 
Management protocols have been shown to be effective in the pediatric emergency medicine (PEM) and pediatric critical care (PCC) settings. Treatment protocols define clear goals which are achieved with consistency in implementation. Over the last decade, many new recommendations have been proposed on managing diabetic ketoacidosis (DKA). Although no perfect set of guidelines exist, many institutions are developing DKA treatment protocols. We sought to determine the variability between institutions in implementation of these protocols.
PMCID: PMC4293652  PMID: 25241617
Pediatric DKA; management; protocols; guidelines; emergency department; critical care unit

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