Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development.

Disorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including comprehensive clinical, hormonal, and genetic investigations. Rapid and accurate diagnosis of DSD requires urgency in terms of gender selection and management of the case. Despite the genetic tests performed in current daily practice, the genetic cause is still not elucidated in a significant proportion of cases. Karyotype analysis can be used as a standard for sex chromosome identification. In addition, quantitative fluorescent polymerase chain reaction (QF-PCR) or fluorescence in situ hybridization (FISH) analysis can be used for faster and more cost-effective detection of the sex chromosome and SRY gene. Multiplex ligation-dependent probe amplification (MLPA), single-gene sequence analysis, next-generation sequence analysis (NGSA), targeted NGSA, whole-exome sequencing (WES), and whole-genome sequencing (WGS) analyses can be performed according to preliminary diagnoses. Microarray analysis (array comparative genomic hybridization (aCGH) and single nucleotide polymorphism array (SNPa)) should be performed in cases with syndromic findings and if no pathology is detected with other tests. In DSD cases, the use of optical genome mapping and techniques, which will probably be in daily practice in near future, may be considered. In conclusion, the clinical and genetic diagnosis of DSD is difficult, and molecular genetic diagnosis is often not available. This has psychosocial and health implications for patients and their families. New genetic techniques, especially those targeting the whole genome, may provide a better understanding of DSD through the identification of little-known genetic causes. This review focuses on conventional genetic and next-generation genetic techniques used in the genetic diagnosis of DSD, as well as possible genetic diagnostic techniques and approaches that may be used in routine practice in near future.

Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia.

Early detection of glycemic dysregulation and optimization of glycemic control at cystic fibrosis related diabetes (CFRD) is associated with improved pulmonary function and decreased mortality. The standard 2-hour oral glucose tolerance test (OGTT) is the current routine screening test for CFRD. However, hyperglycemia can be detected by continuous glucose monitoring systems (CGMS) in patients with normal OGTT evaluation. High-dose acarbose is an important alternative, in the treatment of glycemic dysregulation especially accompanied by hypoglycemia. A 7-year-old boy with cystic fibrosis (CF) presented with hyperglycemia. Hypoglycemia (29 mg/dL) and hyperglycemia (400 mg/dL) were demonstrated by OGTT and intermittent CGM (iCGMS). Thickener was added to nutritional solutions and acarbose was initiated as 3x12.5 mg /dose and increased to 6x25 mg without any side effects. On the 20th day of treatment, glycemic dysregulation was resolved. In the early detection of CFRD, screening with OGTT after the age of 10 is insufficient; therefore, routine use of continous or intermittent glucose monitoring systems should be considered. In addition, in CFRDs with severe hypoglycemia, acarbose is an important alternative in the high and increased dose range.

Evaluation of cardiac structure, exercise capacity and electrocardiography parameters in children with partial and complete growth hormone deficiency and their changes with short term growth hormone replacement therapy.

PURPOSE: To evaluate cardiac structure, exercise capacity and electrocardiography (ECG) parameters of children with complete and partial growth hormone (GH) deficiency (GHD) and the effect of 12 months GH treatment on these. METHODS: M-mode echocardiography, ECG and exercise test expressed as metabolic equivalent (MET) were performed in children with GHD, aged 9-14 years, divided into those with a peak GH response < 7 µg/L (complete GHD; n = 30) and 7-10 µg/L (partial GHD; n = 17) after two GH stimulation tests, at baseline and 12 months after GH initiation. Forty-eight healthy peers underwent the same tests once. RESULTS: Left ventricular mass (LVM) was significantly lower before treatment in both groups with GHD compared to healthy peers (p = 0.015 and p = 0.032) but LVM in the GHD groups was similar to controls after 12 months of treatment. The increase in LVM in the complete GHD group was significant (p = 0.044). LVM index was significantly reduced with treatment in children with partial GHD (p = 0.035). Max METs, VO2max and exercise duration were significantly increased in children with complete GHD after treatment (p = 0.022, p = 0.015 and p = 0.002, respectively). Significant changes in P wave and QTc dispersion on ECG between groups were within physiological limits. CONCLUSION: This study showed that children with both partial and complete GHD had smaller cardiac structures and less exercise capacity compared to their healthy peers prior to GH treatment but this improved with 12 months of treatment. The cardiac trophic effect of GH, as well as the effect of increasing exercise capacity, is greater in those with complete GHD than in those with partial GHD.

Isolated Hyperthyrotropinemia Adversely Influences Lipid Metabolism in Children and Adolescents with Obesity.

OBJECTIVE: The aim of this study is to look at the relationship between hyperthyrotropinemia and anthropometric measurements as well as cardiometabolic risk factors in obese children and adolescents. MATERIALS AND METHODS: A total of 100 patients with isolated hyperthyrotropinemia and 124 patients with normal thyroid functions, between 10 and 18 years of age, were included in the study. Anthropometric and blood pressure measurements and biochemical parameters were recorded. Non-high-density lipoprotein cholesterol, total cholesterol/high-density lipoprotein cholesterol, and triglyceride/high-density lipoprotein cholesterol ratios were calculated. RESULTS: The subjects' mean age was 12.6 ± 1.9 years and their mean body mass index was 29.8 ± 4 kg/m2. The isolated hyperthyrotropinemia group had considerably greater levels of triglyceride, non-high-density lipoprotein cholesterol, and the triglyceride/high-density lipoprotein cholesterol ratio. Higher prevalences of hypertriglyceridemia and increased triglyceride/high-density lipoprotein cholesterol ratio were found in the group with isolated hyperthyrotropinemia. Thyroid-stimulating hormone had a statistically significant positive relationship with triglyceride, non-high-density lipoprotein cholesterol, total cholesterol/high-density lipoprotein cholesterol ratio, and triglyceride/high-density lipoprotein cholesterol ratio, as well as an inverse relationship with high-density lipoprotein cholesterol. Thyroid-stimulating hormone was positively correlated with triglyceride and triglyceride/high-density lipoprotein cholesterol ratio in both females and males; however, only in females, thyroid-stimulating hormone was positively correlated with non-high-density lipoprotein cholesterol and total cholesterol/highdensity lipoprotein cholesterol ratio. The triglyceride/high-density lipoprotein cholesterol ratio, as well as the rates of hypertriglyceridemia were higher in children with isolated hyperthyrotropinemia in the female subgroup. Male children with isolated hyperthyrotropinemia had significantly higher triglyceride levels in comparison with males with normal thyroid-stimulating hormone. CONCLUSION: The present study suggested that isolated hyperthyrotropinemia is associated with the deterioration of lipid metabolism, especially in females. Since dyslipidemia is accepted as a cardiovascular disease risk factor, isolated hyperthyrotropinemia might negatively influence cardiovascular functions in obese children and adolescents.

Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome.

This study aimed to analyze the depressive and anxiety states of adolescent girls with polycystic ovary syndrome (PCOS). This was a cross-sectional, multicenter, case-control study. A total of 100 participants (PCOS group, 51; control group, 49) aged 13-18 yr were included in the study. Body mass index was higher in patients with PCOS (P = 0.002). In the PCOS group, 28.5% of the patients had moderate-to-severe depressive symptoms, whereas the incidence was lower in controls (8.3%, P = 0.021). The State-Trait Anxiety Inventory (STAI)-State, STAI-Trait, and physical, psychosocial, and total Pediatric Quality of Life Inventory PedsQL scores were higher in the PCOS group, suggesting that anxiety was more common and the quality of life was worse in patients with PCOS than in healthy participants (P = 0.01, P = 0.03, P = 0.02, P = 0.046, and P = 0.047, respectively). The serum free testosterone (fT) levels were positively correlated with the depression and anxiety scores and negatively correlated with the psychosocial PedsQL scores. In conclusion, adolescent girls diagnosed with PCOS demonstrated higher depressive and anxiety symptoms and lower psychosocial quality of life scores than their healthy counterparts. A relationship was found between the fT level and all psychological measures.

Reliability and Validity of the Turkish Version of Impact of Weight on Quality of Life for Kids.

OBJECTIVE: The Impact of Weight on Quality of Life-Kids is a self-reported weight-related quality of life measure that has been validated for children and adolescents aged between 11 and 19. Impact of Weight on Quality of Life-Kids does not have a Turkish version. The aim of this study was to explore the reliability and validity of the Impact of Weight on Quality of Life-Kids in Turkish. MATERIALS AND METHODS: The Impact of Weight on Quality of Life-Kids was translated into Turkish using Mapi Research Institute's suggested international translation technique. The psychometric evaluation included test-retest reliability, internal consistency, discriminant validity, concurrent validity, exploratory factor analysis, and confirmatory factor analysis. RESULTS: For the total score, the internal consistency of the scale (Cronbach's alpha coefficient) was 0.93. The item-total score correlation coefficients ranged from 0.178 to 0.785. The testretest coefficients were found to be 0.94 for the total score and the subscales ranged from 0.66 to 0.89 after 2 weeks. Discriminant validity analysis demonstrated that the instrument differentiated well between the obese and non-obese samples. Five variables were discovered via factor analysis that explained 66.9% of the total variation. The chi-square/degree of freedom ratio value was 3.535, the comparative fit index value was 0.834, and the value of root mean square error of approximation was 0.10, as determined by confirmatory factor analysis. CONCLUSION: Our results demonstrated the adequate reliability and validity of the Impact of Weight on Quality of Life-Kids, suggesting that this scale is a useful tool for screening Turkish children and adolescents for weight-related quality of life.

Cardiac functions in children with growth hormone deficiency: Effects of one year of GH replacement therapy.

INTRODUCTION: Children with Growth Hormone deficiency (GHD) are prone to heart dysfunction and, if left untreated, will result in marked cardiac dysfunction in adulthood. The aim was to evaluate the effect of GHD and growth hormone (GH) therapy on cardiac structure in children and adolescents, and to investigate the role of insulin like growth factor-1 (IGF-1) in this. METHODS: M-mode, pulse-wave Doppler echocardiography and tissue Doppler imaging (TDI) were performed in 49 children with GHD who were divided into those with a peak GH response < 7 µg/L and 7-10 µg/L after two GH stimulation tests, aged 8-16 years at baseline and at six and 12 months after GH initiation, and 49 healthy peers. IGF-1 concentration was measured. RESULTS: Although the left ventricular end diastolic and systolic diameters in both GH deficient groups were significantly lower than controls (p < 0.01), both diameters increased significantly with one year of treatment and achieved normal values (p > 0.05). Using TDI in both two patients group revealed increased E/A, prolonged isovolumic relaxation time, shortened ejection time, and a significant increase in myocardial performance index compared to controls (p < 0.001). Significant improvement was observed in these parameters from the sixth month of GH treatment (p < 0.001), this improvement does not match parameters measured in healthy peers, even after one year of treatment in both patients group. (p < 0.001). No correlation was found between IGF-1 concentration and any echocardiographic parameter. CONCLUSION: Echocardiographic parameters were similar in children with a GH peak < 7 µg/L and 7-10 µg/L. In TDI, both systolic and diastolic function was impaired in GHD children compared to controls. These parameters improved after one year of GH therapy but did not recover to healthy control levels.

Urinary NGAL is a Potential Biomarker for Early Renal Injury in Insulin Resistant Obese Non-diabetic Children

Objective: Neutrophil gelatinase-associated lipocalin (NGAL) is one of the new biomarkers for detecting acute renal injury. There are studies showing the relationship between NGAL and renal injury in obese children. The aim of this study was to investigate whether urinary levels of NGAL, kidney injury molecule-1, and serum cystatin C are increased in insulin resistance (IR) patients before the development of diabetes. Methods: Cross-sectional, case-controlled study that included non-diabetic obese children and adolescent patients with IR and a non-diabetic obese control group with no IR, who attended a tertiary center pediatric endocrinology outpatient clinic between 2016-2018. Those with diabetes mellitus and/or known renal disease were excluded. NGAL and creatinine (Cr) levels were evaluated in the morning spot urine from all participants. Serum renal function was evaluated. Results: Thirty-six control and 63 IR patients were included in the study, of whom 68 (68.7%) were girls. The mean age of all participants was 13.12±2.64 years and no statistically significant difference was found between the two groups in terms of age or gender distribution. Median (range) spot urinary NGAL (u-NGAL) values in the IR group were significantly higher at 26.35 (7.01-108.7) ng/mL than in the control group at 19.5 (3.45-88.14) ng/mL (p=0.018). NGAL/Cr ratio was also significantly higher in the IR group compared to the control group (p=0.018). Conclusion: Obese pediatric patients with IR were shown to have elevated levels of u-NGAL, a marker of renal injury. u-NGAL examination may show early renal injury before development of diabetes.

Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case-control study.

OBJECTIVES: To investigate the effects of maternal smoking during pregnancy on newborn infants' anogenital distance (AGD). METHODS: Fifty-six female and sixty-four male newborn infants from mothers who smoked during pregnancy were included in this study. A control group for each sex was selected from infants whose mothers had no active or passive (in either the household or the workplace) smoke exposure before or during pregnancy. Questionnaire data on maternal demographic characteristics and information about cigarette use were collected. We assessed genital anthropometry which included AGD for both male and female neonates, and stretched penile length (SPL), penile girth for males within the first 48 h after birth. AGD measurements were also normalized according to birth weight (AGD/weight in grams), length (AGD/height in millimeters), and ponderal index [AGD/(weight in grams/height in cubic centimeters)]. Anogenital index (AGI) was calculated by dividing the AGD by cube root of birth weight. RESULTS: In female infants, prenatal smoke exposure was associated with significantly increased weight-adjusted AGD (p=0.03). There was also a significant correlation between mothers' daily smoking rates and weight-adjusted AGD (r=0.27/p=0.03). In male infants, fetal smoke exposure was not associated with any AGD measurements, SPL and penile girth. CONCLUSIONS: A significant increase in weight-adjusted AGD in female infants exposed to maternal smoking may be an indicator of antenatal androgen exposure and may pose a risk for short and long-term endocrine, metabolic and behavioral problems.

Evaluation of lower urinary tract symptoms in children with Down syndrome: A prospective, case-controlled cohort study.

AIMS: In children with Down syndrome (DS) which causes cognitive impairment and intellectual disability (ID), dysfunctional voiding is proposed to be more common than in the normal population. In this study, we aimed to compare the voiding symptoms of DS children with a control group by validated questionnaires. METHODS: Thirty-seven DS children without any previous urological complaints and 59 non-DS healthy children as control group was included in the study. Overactive bladder symptoms and dysfunctional voiding were evaluated with validated Overactive Bladder Questionnaire (OAB-V8) and Dysfunctional Voiding Symptom Score (DVSS) questionnaire, respectively. Data were arranged, descriptive and comparative statistical analysis were performed. RESULTS: Demographic data of the two groups were similar except age of completing toilet training being higher in DS group. Total OAB-V8 and DVSS scores were significantly higher in the DS group. The mean scores of questions regarding voiding frequency, urgency and urgency incontinence in OAB-V8 were significantly higher in the DS group. The mean daytime incontinence, urgency, urgency incontinence, and quality of life scores in the DVSS were also significantly higher in the DS group. CONCLUSIONS: DS children have more frequent dysfunctional voiding than the normal population. ID of these children may prevent the expression of these symptoms. Awareness and early detection of these symptoms are crucial to prevent devastating complications such as renal failure. Therefore, validated questionnaires are simple, useful, and noninvasive methods.

Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children.

Aims A decrease in health-related quality of life (HRQOL) measures among obese (OB) and overweight (OW) children has been shown in several studies, but knowledge about the variables affecting HRQOL impairments is missing. The aim of this study was to evaluate the relationship between HRQOL and sociodemographic characteristics, anthropometric measurements, metabolic parameters, mental symptoms and parental attitudes in a sample of OB/OW children. Methods Eighty-six OB/OW children, aged between 9 and 17 years, participated in the study. We performed sociodemographic questioning, anthropometric examinations and laboratory evaluations of the participants. HRQOL was assessed using the Pediatric Quality-of-Life Inventory (PedsQL), and levels of anxiety and depressive symptoms were measured using the Screen for Child Anxiety-Related Disorders (SCARED) questionnaire and the Children's Depression Inventory (CDI), respectively. Parental attitudes were assessed with the Parental Attitude Research Instrument (PARI) questionnaire. Results A statistically significant relationship was found between total scores of CDI and SCARED answered by children and the total and subscale scores of PedsQL. Scores of total quality of life subscale, physical functionality and emotional functionality subscales were significantly lower in children with a family history of mental illness. No relationship was found between PedsQL subscales, anthropometric and metabolic parameters. Conclusions Emotional problems and parental psychological distress are important factors in models of HRQOL in the OB/OW pediatric population.

Associations Between Serum Uric Acid Concentrations and Cardiometabolic Risk and Renal Injury in Obese and Overweight Children

Objective: The aim of this study was to assess the association between serum uric acid concentration (SUAC) and the parameters of the metabolic syndrome (MetS) and insulin resistance (IR). The secondary aim was to evaluate whether hyperuricemia is associated with renal injury and cardiovascular risk in obese (OB) and overweight (OW) children. Methods: The subjects of this study consisted of OB/OW children and adolescents (ages: 8-18 years). Sex and age specific serum uric acid (SUA) olarak degistirilecek percentiles were used and a SUA >75th percentile was accepted as hyperuricemia. Anthropometric data, blood pressure (BP) measurements and biochemical parameters, including fasting blood glucose, insulin, total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol, triglycerides (TG), aspartate aminotransferase, alanine aminotransferase, homeostatic model assessments of IR (HOMA-IR) and SUAC were recorded. Oral glucose tolerance tests (OGTT) were performed in all patients. MetS was defined according to the International Diabetes Federation criteria. Total cholesterol/HDL-c ratio >4 and TG/HDL-c ratio >2.2 were used as the atherogenic index (AI) indicating cardiovascular risk. Urinary albumin excretion in a 24-hour and also in a first-morning urine sample were measured. Renal injury was assessed by microalbuminuria according to the National Kidney Foundation criteria. Results: There were 128 participants; 52 (40%) had elevated (SUA >75th percentile) and 76 had (60%) normal SUAC. The mean±SD age was 13.1±2.6 years and 87 (67.4%) were female. The mean±SD weight was 73±18.97 kg and mean±SD height was 155.4±12.11 cm. There was no statistical difference between the groups with and without hyperuricemia in terms of age, sex, puberty stage and degree of obesity. Increased SUAC were significantly associated with higher waist-to-hip ratio (WHR), fasting insulin levels and insulin at 30 and 60 minutes during OGTT, HOMA-IR, lower HDL-c and presence of hypertriglyceridemia as well as with decreased HDL-c, increased AI, presence of IR and MetS. BP and microalbuminuria were not associated with SUAC. SUAC showed significant positive correlations with waist circumference, WHR, post-challenge glucose level at 60 minutes, with fasting insulin, post-challenge insulin levels at 30, 60, 90 and 120 minutes and also with HOMA-IR, total cholesterol/HDL-c ratio, TG/HDL-c ratio and a number of other criteria related to MetS. Also, an inverse correlation with HDL-c was noted. Conclusion: In OB/OW children frequency of MetS, IR and dislipidemia increases with increased SUAC, a finding independent of age, puberty, gender and body mass index. Patients meeting all of the MetS criteria had the highest SUAC. These results demonstrate that the association between UA and metabolic and cardiovascular risk factors can be detected early in childhood. Thus, we recommend monitoring SUAC in OB children and we believe that prevention of SUAC elevation in early life has a potential protective effect on metabolic impairment and subsequent comorbidities.

Performance of first and second generation supraglottic airway devices in patients with simulated difficult airway: a randomised controlled trial.

BACKGROUND: Guidelines for management of unanticipated difficult intubation recommend the use of supraglottic airway devices (SADs) in cases of failed intubation. How-ever, there is a lack of comparative studies for different type of devices. In this randomised controlled trial, the performance of 1st and 2nd generation supraglottic airway devices was compared in patients with a simulated difficult airway. MATERIAL AND METHODS: We enrolled 90 patients, scheduled for elective surgery and suitable for supraglottic airway device insertion. Laryngeal mask airway (LMA)-classic (LMAC), LMA-proseal (LMAP) and LMA-flexible (LMAF) were evaluated. The modified Mallampati test was used for the preoperative airway assessment. Maximal mouth opening, body mass index, thyromental and sternomental distances, and neck circumference were measured, and patients with predicted difficulty were excluded. Insertion time, ease of insertion, oropharyngeal leak pressure, and Brimacombe and Berry Bronchoscopy Scores were evaluated. Peak airway pressure was measured at 1, 15 and 60 min following the insertion of SADs. Complications were recorded. RESULTS: Oropharyngeal leak pressures were 35.2 ± 8.1, 31.7 ± 7.7 and 31.3 ± 6.0 mm Hg for LMAP, LMAC and LMAF respectively (P = 0.079). First min peak airway pressure values were 14.0 ± 4.2, 15.0 ± 3.9, 14.9 ± 4.4 mm Hg respectively (P = 0.403). There was a significant positive correlation between oropharyngeal leak pressure and first min peak airway pressure (r = 0.264, P = 0.013). Mean number of attempts was 1.1 ± 0.3 times (P = 0.840). Insertion time was 20.0 ± 10.4, 17.0 ± 5.7 and 16.4 ± 10.2 s respectively (P = 0.440). Ease of insertion score was 2.0 ± 0.9, 2.1 ± 0.9 and 2.1 ± 1.3 respectively (P = 0.837). There was no significant difference for optimization manoeuvre requirement or fibreoptic scope grades (P = 0.265, P = 0.651, respectively). CONCLUSIONS: First and second generation of supraglottic airway devices provided similar clinical performance for patients with difficult airway and trauma due to limited cervical motion.

Bone mineral density, vitamin D status, and calcium intake in healthy female university students from different socioeconomic groups in Turkey.

Peak bone mass is reached in late adolescence. Low peak bone mass is a well recognized risk factor for osteoporosis later in life. Our data do not support a link between vitamin D status, bone mineral density (BMD), and socioeconomic status (SES). However, there was a marked inadequacy of daily calcium intake and a high presence of osteopenia in females with low SES. PURPOSE: Our aims were to (1) examine the effects of different SES on BMD, vitamin D status, and daily calcium intake and (2) investigate any association between vitamin D status and BMD in female university students. SUBJECTS AND METHODS: A questionnaire was used to obtain information about SES, daily calcium intake, and physical activity in 138 healthy, female university students (age range 18-22 years). Subjects were stratified into lower, middle, and higher SES according to the educational and occupational levels of their parents. All serum samples were collected in spring for 25-hydroxyvitamin D concentration (25OHD). Lumbar spine and total body BMD was obtained by dual-energy X-ray absorptiometry (DXA) scan (Lunar DPX series). Osteopenia was defined as a BMD between - 1.0 and - 2.5 standard deviations (SDs) below the mean for healthy young adults on lumbar spine DXA. RESULTS: No significant difference was found between the three socioeconomic groups in terms of serum 25OHD concentration, BMD levels, or BMD Z scores (p > 0.05). Both the daily intake of calcium was significantly lower (p = 0.02), and the frequency of osteopenia was significantly higher in girls with low SES (p = 0.02). There was no correlation between serum 25OHD concentration and calcium intake and BMD values and BMD Z scores (p > 0.05). The most important factor affecting BMD was weight (ß = 0.38, p < 0.001). CONCLUSIONS: Low SES may be associated with sub-optimal bone health and predispose to osteopenia in later life, even in female university students.

Insulin Resistance as Related to Psychiatric Disorders in Obese Children

Objective: The current study aimed to investigate psychiatric consequences of obesity and the relationship between componenets of the metabolic syndrome and psychiatric disorders in children. Our second aim was to elucidate which of the anthropometric parameters or metabolic components were most strongly associated with psychiatric disorders. Methods: The study included 88 obese and overweight children with a body mass index (BMI) greater than 85th percentile. The patients were evaluated for psychiatric disorders by a single child and adolescent psychiatrist. Forty patients diagnosed with psychiatric disorders and 48 patients with normal psychiatric evaluation were compared in terms of anthropometric and metabolic parameters. BMI, BMI-standard deviation score and BMI percentile, waist circumference, waist to hip ratio, blood pressure and pubertal stage of all patients were recorded. Fasting serum glucose, insulin, lipid profile and homeostatic model assessments of insulin resistance (HOMA-IR) were measured to evaluate the metabolic parameters. Serum and 24 hour urine cortisol levels were measured. Results: HOMA-IR in the group with psychiatric disorders was found to be significantly higher than in the group without psychiatric disorders (6.59±3.36 vs 5.21±2.67; p=0.035). Other anthropometric measurements and metabolic parameters were not significantly different between the two groups. Conclusion: An understanding of the relationships between obesity related medical comorbidities and psychiatric pathologies is important to encourage patients and their families to make successful healthy lifestyle changes and for weight management in terms of appropriate treatment.

Central Precocious Puberty Secondary to Adrenocortical Adenoma in a Female Child: Case Report and Review of the Literature.

BACKGROUND: Pediatric adrenocortical tumors are rare but significant causes of virilization and peripheral precocious puberty (PPP). CASE: A 4-year-old girl presented with development of breast, pubic hair, and facial acne. Her bone age was advanced, and her gonadotropin level did not elevate in a gonadotropin-releasing hormone (GnRH) test. High levels of dehydroepiandrosterone sulfate, estradiol, and testosterone, and detection of a tumor in the left adrenal gland of the abdomen using computed tomography led to a diagnosis of PPP due to adrenal tumor. Adrenal adenoma was diagnosed with pathology after the tumor was removed. Ultrasonography detected multicystic ovaries before surgery. Although the androgen levels decreased, high estrogen levels persisted after complete tumor resection. Approximately 1 year after the surgery, the patient's breast development persisted, bone age progressed rapidly, and gonadotropin levels increased in a GnRH test. Central precocious puberty was diagnosed, and treatment with GnRH analogues was started. SUMMARY AND CONCLUSION: Adrenal adenoma might present with isosexual PPP as well as virilization in girls. The ovaries should be carefully assessed in these patients. Prolonged exposure to androgen and estrogen might cause ovarian multicysts leading to persistence of high estrogen levels and initiation of central precocious puberty.

Diagnostic difficulties by the unusual presentations in children and adolescents with Hashimoto thyroiditis.

Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired primary hypothyroidism due to Hashimoto's thyroiditis (HT) presenting with unusual manifestations. We described 3 children with acquired primary hypothyroidism due to HT. One of our patients had musculoskeletal pain and was diagnosed and treated as having connective tissue disease. Another patient presented with chest pain, dyspnea, and swelling in the abdomen. She had a massive pericardial effusion (PE). Two patients had severe growth failure. A third patient with Down syndrome had a small PE. Her complaint was dyspnea during sleep. All patients improved with thyroxin therapy. Patients with hypothyroidism due to HT who have complicated clinical manifestations were misdiagnosed and mismanaged at childhood and adolescence. Growth failure is an important sign in children and adolescents. In the presence of complicated manifestations in children and adolescents, thyroid dysfunction must be considered in differential diagnosis.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

Comparison of neostigmine and sugammadex for hemodynamic parameters in cardiac patients undergoing noncardiac surgery.

STUDY OBJECTIVE: The aim of this study is to compare the hemodynamic effects of neostigmine-atropine combination and sugammadex in patients with cardiac problems undergoing noncardiac surgery. DESIGN: Prospective randomized study. SETTING: In the operating room. PATIENTS: Ninety patients with a class 2 or 3 cardiovascular disease according to the New York Heart Association classification and aged between 18 and 75 years undergoing noncardiac surgery were randomized. INTERVENTIONS: Group N (n = 45) received 0.03 mg/kg IV neostigmine when T2 appeared as measured with a nerve muscle stimulator. When heart rate was 5 beats/min (±10 beats/min) lower than the heart rate before administration of the medication, 0.5 mg IV atropine sulfate was given. Group S (n = 45) received 3 mg/kg IV sugammadex when T2 appeared as measured with a nerve muscle stimulator. MEASUREMENTS: Heart rate, mean systolic and diastolic blood pressures, and electrocardiographic alterations including the QTc (QT Fredericia and QT Bazett) were recorded. MAIN RESULTS: There were no significant differences between and within the groups in terms of QTc values. Sugammadex group had a significant decrease on heart rate 1 minute after the medication when compared to the measurement before the medication (P < .05). Heart rate and systolic blood pressure increased in neostigmine group 3 minutes after the medication and during postoperative measurements (P < .05). Sugammadex group had lower systolic, diastolic, and mean blood pressures and heart rate when compared to neostigmine group (P < .05). CONCLUSIONS: We suggest that sugammadex might be preferred as it provides more hemodynamic stability compared to neostigmine-atropine combination to reverse rocuronium-induced neuromuscular blockage in cardiac patients undergoing noncardiac surgery.

Erratum: Diagnostic difficulties by the unusual presentations in children and adolescents with Hashimoto thyroiditis.

[This corrects the article on p. 164 in vol. 21, PMID: 27777910.].