The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH. The enzyme deficiencies such as 21-hydroxylase, 11-beta-hydroxylase, 3-beta-hydroxysteroid dehydrogenase, 17-alpha-hydroxylase deficiencies are associated with CAH. In this study, we aimed to investigate CYP21A2, CYP11B1, HSD3B2 genes which are associated with 21-hydroxylase, 11-beta-hydroxylase and 3-beta-hydroxysteroid dehydrogenase enzyme deficiencies, respectively, in 365 individuals by using Sanger sequencing method. We emphasized the classification of variants according their disease causing potential, and evaluated variants' frequencies including newly discovered novel variants. As a result, 32 variants of CYP21A2 including 10 novel variants, 9 variants of CYP11B1 including 3 novel variants and 6 variants of HSD3B2 including 4 novel variants were identified. The conclusions of our study showed that in Anatolia, discovery of novel variants is quite common on account of tremendous ratios of consanguineous marriages which increases the frequency of CAH. These results will contribute to the understanding of molecular pathology of the disease.

Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population.

Polycystic ovary syndrome (PCOS) is a frequent complex disorder with an ill-defined etiology. Genetic factors seem rather effective at the occurrence of the disease, however, the evidence of established various studies results are unsatisfied. We aimed to make a contribution to the genetic baseline of the disease by investigating melanocortin 3 receptor gene polymorphism in affected patients. 101 PCOS patients and 162 age-matched healthy volunteered control subjects recruited to the study. PCOS patients classified according to their BMI class and insulin resistance situation. Anthropometric measurements, physical examination results, laboratory findings, and hormone levels were recorded for each participant and analysis of two SNPs on the MC3R gene; rs3746619 and rs3827103 were performed. Although no significant difference was observed in rs3827103 polymorphism between PCOS patients and controls; rs3746619 polymorphism was determined associated with PCOS in the heritage of dominant (AA + AC) and co-dominant (AA) genotypes. Two polymorphisms did not found related to obesity and insulin resistance in PCOS subgroups analysis. MC3R gene rs 3746619 polymorphism was found associated with PCOS in the Turkish population and may make a contribution to the genetic baseline of the disease.

In vitro evaluation of nebivolol effects on nonadrenergic noncholinergic responses in rabbit corpus cavernosum.

The purpose of this study was to compare the effects of nebivolol on nonadrenergic noncholinergic (NANC) relaxation functions that are mediated by electric field stimulation (EFS) in rabbit corpus cavernosum smooth muscle by comparison with other beta-adrenergic receptor blockers and show the level on which its effects through nitric oxide take place. After the effects of nebivolol on the isolated corpus cavernosum tissues that were contracted through the alpha-adrenergic pathway and application of L-NAME' (NG -nitro-L-arginine methyl ester) which is a competitive inhibitor of nitric oxide synthase (NOS), the changes that occurred were recorded. Following the effect on the tissue that was contracted with phenylephrine in the presence of atropine and guanethidine that was created by EFS, nebivolol and other beta-blockers were added and the changes were recorded. After receiving relaxation responses with EFS-mediated NANC, no difference was observed between the relaxation responses due to addition of nebivolol and other beta-adrenergic blockers (p > 0.05). The finding that nebivolol which has a NO-mediated relaxation effect did not have an effect on EFS-mediated NANC relaxation but created relaxation on the tissue that was contracted by phenylephrine and the effect was reversed by L-NAME, shows that its effects are on a postsynaptic level.

Hair-thread tourniquet syndrome of the hypertrophic clitoris in a 6-year-old girl.

Hair-thread tourniquet syndrome is defined as the ischemic strangulation of hair resulting in edema and severe pain and may cause amputation of organs. Strangulation of the external genitalia (clitoris, labia minora) has rarely been described in girls. Here, we present a case of hypertrophic clitoris injury secondary to hair strangulation in a 6-year-old girl.

Thyroid surgery in children: a single-center experience of 20 years.

OBJECTIVE: Thyroidectomy is a relatively uncommon procedure in pediatric patients. We aimed to review our 20-year experience of thyroid surgery. METHODS: A total of 39 patients who underwent thyroid surgery from 2003 to 2023 were retrospectively evaluated. All patients were followed preoperatively and postoperatively by our institutional multidisciplinary board. Patients were divided into two groups based on their pathologies: benign and malignant. RESULTS: In total, 39 patients (27 girls and 12 boys) underwent 47 thyroid surgeries (total thyroidectomy in 19 patients and subtotal thyroidectomy in 20 patients, with 8 of them having completion thyroidectomy). Notably, 20 (51%) patients had benign and 19 (49%) patients had malignant pathologies. Median age at operation was 157 (9-223) months in the benign group and 182 (1-213) months in the malignant group. In the benign group, 12 (60%) patients had colloidal goiter and 8 (40%) patients had other conditions. In the malignant group, 12 (63%) patients had papillary thyroid carcinoma, 3 (16%) patients had follicular thyroid carcinoma, 2 (11%) had medullary thyroid carcinoma, and 2 patients had other thyroid malignancies. Overall permanent complication rate was 2 out of 39 (5%), which was similar for both groups (1 hypocalcemia in each group). The median follow-up was 38 months (1-179 months) with no local recurrence or distant metastasis. CONCLUSION: Pediatric thyroidectomies are performed on a heterogeneous group of pediatric patients due to a diverse group of pathologies. A multidisciplinary approach is required for proper initial management and surgical strategy with decreased complication rate and event-free survival of these patients in experienced tertiary centers.

Disordered eating behaviors and associated factors in children and adolescents with type 1 diabetes.

OBJECT: As part of their treatment, patients with type 1 diabetes mellitus (DM) have to be very careful with what they eat and with their insulin doses. Therefore, the risk of eating disorders increases in this patient group. In this study, we aimed to determine the disordered eating behaviors of patients with type 1 DM and to evaluate the sociodemographic characteristics, diabetes care behaviors, and quality-of-life scale results that these behaviors may be related to. METHOD: The sociodemographic characteristics and diabetes treatment data of 191 patients aged 9-18 years with type 1 DM were analyzed. The Pediatric Quality of Life Inventory (PedsQL), the PedsQL 3.0 Diabetes Module, and the Diabetes Eating Problem Survey-Revised (DEPS-R) were applied. RESULTS: The median DEPS-R score of the patients was 18 (19.00), and 44.5 % had a DEPS-R score above 20. A significant correlation was found between age, duration of diabetes, frequency of blood glucose measurement, hemoglobin A1c (HbA1c) level, body mass index standard deviation score (BMI-SDS), and DEPS-R score. There was no significant difference between girls and boys. Patients with a high DEPS-R score had low scores on the PedsQL and on the PedsQL 3.0 Diabetes Module. CONCLUSION: The DEPS-R scale is a diabetes-specific, easy-to-use, and effective method for screening patients with type 1 DM for disordered eating behaviors. It can help prevent the progression of disordered eating behaviors to clinical eating disorders in patients with type 1 DM. It would be beneficial to use this scale as a routine screening, especially in clinics where access to a psychologist is not possible.

Sleep disturbances in children and adolescents with type 1 diabetes mellitus: Prevalence, and relationship with diabetes management.

OBJECTIVE: A decline in sleep quality and regularity has been reported in patients with type 1 diabetes mellitus (T1D) in many studies. However, research on medical-based sleep disorders in patients with T1D is limited. Diagnosing sleep disorders is crucial, as it negatively impacts academic performance, cardiovascular health, and cognitive functions among children as well as essential skills for effective diabetes management. Our objective was to assess sleep disturbances in patients diagnosed with T1D and explore whether these patients experience significantly more sleep disturbances compared to their healthy peers. METHODS: This study, designed as a cross-sectional case-control investigation, involved a cohort of 250 participants (144 T1D, 106 control cases) aged 6-15 years. The Sleep Disturbance Scale for Children (SDCS) scores of the T1D group were compared with those of the control group. Furthermore, the study explored the correlation between clinical/biochemical parameters and SDCS scores within the T1D group. RESULTS: The mean age of individuals in the T1D group was 10.27 ± 3.25 years, while the control group had a comparable mean age of 10.48 ± 3.5 years (P = 0.303). Within the T1D group, the median duration of diabetes was 5 (1-15) years, and the median glycosylated hemoglobin A1c (HbA1c) level for the past one year was 8.4 %. Although there was no significant difference in total SDSC scores between the T1D and control groups, both groups exhibited average scores that remained close to the threshold indicative of sleep disturbances (>39). Notably, individuals with total SDSC scores surpassing 39 were identified at rates of 48.6 % in the T1D group and 47.6 % in the control group, respectively. Furthermore, disorders of arousal nightmares (DA) were more prevalent in T1D patients compared to their healthy peers (P = 0.049). Additionally, HbA1c showed a positive correlation with scores for disorders of excessive somnolence (DOES) and total scores (P < 0.001, R = 0.368; P = 0.003, R = 0.243). CONCLUSION: Our study found that the prevalence of sleep disturbances among children and adolescents with T1D was not significantly higher than that observed in their healthy peers. Nevertheless, it is crucial to note that a notable portion, 48.6 % of T1D cases and 47.6 % of healthy cases, displayed sleep disturbances based on SDSC scores. To optimize diabetes management and proactively address potential challenges, incorporating routine screening for sleep disturbances in the monitoring of T1D patients can yield valuable benefits.

Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.

We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right side, and (2) an immature fallopian tube, a vas deferens, and a gonad resembling a testis on the left side. Conventional cytogenetic analysis performed on cultivated peripheral blood cells, and tissue obtained from the phallus and a gonadal structure which resembled a testis revealed two different cell lines with the 46,X,tas (Y;19)(p11.3;q13.4) and 45,X karyotype. Y chromosome microdeletion analysis showed that the patient did not have any genomic deletions in the AZFa, b, c, or SRY regions on the long arm of the Y chromosome. This is the first report of a patient with mixed gonadal dysgenesis that is accompanied by a telomeric association between chromosomes 19 and Y with 45,X mosaicism.

Investigation of the role of the NO-cGMP pathway on YC-1 and DEA/NO effects on thoracic aorta smooth muscle responses in a rat preeclampsia model.

The present study was designed to investigate the effects of YC-1, a nitric oxide (NO)-independent soluble guanylate cyclase (sGC) activator, and DEA/NO, a NO donor, on smooth muscle responses in the preeclampsia model with suramin-treated rats and on the levels of cyclic guanosine monophosphate (cGMP) of thoracic aorta rings isolated from term-pregnant rats. Rats of 2 groups, control group and suramin group, were given intraperitoneal injection of saline or suramin, respectively. Suramin injection caused increased blood pressure, protein in urine, and fetal growth retardation. Thoracic aorta rings were exposed to contractile and relaxant agents. KCl contraction and papaverine relaxation responses were similar. Relaxation responses of YC-1 and DEA/NO decreased in suramin group. In both groups in the presence of ODQ, a sGC inhibitor, the relaxation responses of YC-1 and DEA/NO decreased. The cGMP content was determined by radioimmunoassay technique. The content of cGMP in the suramin group decreased. In the presence of YC-1 and DEA/NO in both groups, cGMP content increased, but in ODQ-added groups, there was a significant decrease. We conclude that in preeclampsia, the decrease of relaxation responses and the decrease of cGMP content could be due to the reduction in stimulation of sGC and the decrease in cGMP levels.

Evaluation of the growth response of children with growth hormone deficiency according to the peak growth hormone levels in provocation tests.

BACKGROUND: We aimed to evaluate the relation between the peak growth hormone (GH) levels in provocation tests and response to recombinant human GH (rhGH) therapy in patients with GH deficiency (GHD). METHODS: This was a cross-sectional, single-center, and retrospective study. A total of 135 patients under the age of 16 years who were diagnosed with GHD through insulin tolerance tests and L-DOPA stimulation tests and who received rhGH therapy for at least 2 years in the Pediatric Endocrinology Clinic of Akdeniz University Hospital between 1997 and 2021 were included in the study. RESULTS: The patients were divided into two groups: idiopathic GHD (group I, n = 119) and multiple pituitary hormone deficiencies or organic pathology on magnetic resonance imaging (group II, n = 16). The patients in group I were classified into three subgroups according to the peak GH values in the provocation tests (group Ia: peak GH <3 µg/L, n = 34; group Ib: peak GH between 3 and 7 µg/L, n = 71; group Ic: peak GH between 7 and 10 µg/L, n = 34). The median age was 11.5 years in group I (8.8 in group Ia, 12.1 in group Ib, 12.3 in group Ib) and 8.8 years in group II. The height standard deviation score (SDS) was -2.93 in group I (-2.85 in group Ia, -2.99 in group Ib, -2.94 in group Ic) and -3.79 in group II. The median Δheight SDS was 0.61 in group I and 1.05 in group II at the end of the first year of treatment and 0.31 in group I and 0.45 in group II at the end of the second year (p = 0.005 and p = 0.074, respectively). When the subgroups of group I were compared, height SDS, Δheight SDS, and height velocity (HV) SDS were all higher in group Ia at the end of the first year of rhGH therapy (p = 0.040, p = 0.029, and p = 0.005, respectively). The height SDS was still significantly higher in group Ia (p = 0.033) while the HV SDS and Δheight SDS were similar between the groups at the end of the second year of therapy (p = 0.164 and p = 0.522, respectively). There was a statistically significant association between the first-year HV SDS and the peak GH value in provocation tests in multiple regression analyses (p<0.001). In addition, the final model revealed that height SDS and weight SDS at the start of the treatment and the first-year HV SDS are the factors with a statistically significant effect on the second-year HV SDS (p = 0.022, p = 0.001, and p<0.001, respectively). CONCLUSION: Our findings show that the lower the GH peak in provocation tests, the better the response to treatment. The best HV was observed in the first year of rhGH therapy, and the diagnosis should be checked in those patients who had a low first-year HV and did not have a severely low GH peak in provocation tests.

Intrathyroidal ectopic thymic tissue may mimic thyroid cancer: a case report.

Ectopic intrathyroidal thymus tissue that may be present as a thyroid nodule is rarely reported. We present a case of a 4-year-old boy with a solitary thyroid nodule. Real-time thyroid ultrasound showed a calcified nodule in the right lobe. Complete blood count, serum calcitonin, and thyroglobulin concentration were normal and antithyroid antibodies were negative. Fine-needle aspiration (FNA) biopsy was revealed as inadequate for cytological examination. During his follow-up, nodular enlargement was found, and the patient was subjected to surgical total excision of the right lobe of the thyroid gland. Pathological examination showed an ectopic intrathyroidal thymus tissue. In childhood, ectopic intrathyroidal thymus tissue can present as an enlarging microcalcified thyroid nodule that may mimic thyroid cancer and may grow during follow-up.

Elevated Selenoprotein P Levels in Thalassemia Major Patients.

INTRODUCTION: Previous studies have measured selenium levels and glutathione peroxidase 3 (GPX3) activity in patients with thalassemia major (TM). However, Selenoprotein P (SEPP), which is responsible for the storage and transport of selenium, has not been studied in thalassemia patients. This study aims to correlate thyroid functions of TM patients with their SEPP and GPX3 levels. MATERIALS AND METHODS: Eighty subjects (40 controls, 40 TM patients) were included in this study. GPX3 and SEPP concentrations were measured in all subjects using sandwich ELISA. Iron, ferritin, urinary iodine, thyroxine (T4), triiodothyronine (T3), thyrotropin (TSH), anti-thyroid peroxidase (anti-TPO), and anti-human thyroglobulin (anti-hTG) concentrations were also measured. RESULTS: Mean SEPP concentration was higher in the TM group compared to the control group. A slight elevation in GPX3 levels was also observed in thalassemia patients, yet it was not statistically significant. In both TM patients and controls, ferritin was inversely correlated with free T4 concentration and GPX3 was inversely correlated with free T4 and T3 concentrations. There was also a negative correlation between SEPP and TSH concentrations in healthy subjects. CONCLUSION: This is the first study, which has measured SEPP concentrations in thalassemia patients. SEPP levels were higher in TM patients compared to controls. Correlations between thyroid hormones and selenoproteins may indicate that selenium is necessary for thyroid function. Detailed studies are required to elaborate the role of SEPP in thyroid metabolism in thalassemia patients.

The Examination of the Relationship Between COVID-19 and New-Onset Type 1 Diabetes Mellitus in Children.

OBJECTIVE: This study aimed to evaluate presentations of new-onset type 1 diabetes mellitus in a pediatric cohort during the coronavirus disease 2019 pandemic. MATERIALS AND METHODS: This study was designed as a single-center, descriptive, cross-sectional retrospective study. The patients diagnosed with new-onset type 1 diabetes mellitus between April 1, 2020, and April 1, 2021, were included in the study. The rate of severe acute respiratory syndrome coronavirus 2 polymerase chain reactivity-positivity was investigated. The pandemic period was compared with the same period of the pre-pandemic 2 years in terms of number of new-onset type 1 diabetes mellitus patients, rate of presentation with diabetic ketoacidosis, and degree of diabetic ketoacidosis severity. RESULTS: In total, 56 patients were diagnosed with type 1 diabetes mellitus during the pandemic and 2 (3.57%) of them tested positive for severe acute respiratory syndrome coronavirus 2 polymerase chain reaction. The number of new-onset type 1 diabetes mellitus patients was 39 in 2019 and 39 in 2018. The rate of presentation with diabetic ketoacidosis was similar in the pandemic period compared to the pre-pandemic periods (53.5% in 2020 vs. 56.4% in 2019 and 53.8% in 2018; P = .94). The proportion of severe diabetic ketoacidosis was also similar in all years, respectively (43.3% in 2020 vs. 45.4% in 2019 and 47.6% in 2018; P = .95). CONCLUSION: We reported only 2 cases that tested positive for severe acute respiratory syndrome coronavirus 2among the new-onset type 1 diabetes mellitus patients during the pandemic. Although we found an increase in the number of new-onset type 1 diabetes mellitus cases by comparing with prepandemic period, rates of diabetic ketoacidosis and severe diabetic ketoacidosis were similar. There was no finding to suggest that severe acute respiratory syndrome coronavirus 2taking a part in type 1 diabetes mellitus pathogenesis. Since the development of type 1 diabetes mellitus is a long process, prospective studies are needed to investigate the long-term effects of severe acute respiratory syndrome coronavirus 2.

Psychiatric Disorders and Peer-Victimization in Children and Adolescents With Growth Hormone Deficiency.

In this study, we aimed to investigate psychiatric disorders, bullying/victimization, and quality of life in children and adolescents with idiopathic growth hormone deficiency (GHD). Sixty-one children and adolescents who were diagnosed as having idiopathic GHD were evaluated using a semistructured interview by a child and adolescent psychiatrist. Some 45.9% of the subjects with GHD were diagnosed with at least 1 psychiatric disorder. The most common psychiatric diagnosis was social anxiety disorder (18.3%). Twenty-eight percent of the subjects reported being bullied by their peers. Victimization rates were less frequent in those treated for more than 1 year. Children aged between 6 and 12 years had poorer quality of life and higher anxiety levels than adolescents aged between 13 and 18 years. Due to the higher rates of existing psychiatric disorders, the clinical management of patients with GHD should be conducted with a multidisciplinary approach, in which pediatric endocrinologists and mental health professionals work in coordination.

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.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.

Effects of methylphenidate on height, weight and blood biochemistry parameters in prepubertal boys with attention deficit hyperactivity disorder: an open label prospective study.

Background: Adverse effects of stimulants on growth in children have long been studied, but the results remain to be clarified, because metabolic changes or predictors accompanying the growth deviations were not sufficiently studied. Objective: This open label-prospective study investigated the effects of methylphenidate (MPH) on weight, height, blood biochemistry in children with attention deficit hyperactivity disorder (ADHD). Method: Prepubertal boys treated with MPH in Child and Adolescent Psychiatry Clinic at Antalya Training and Research Hospital in Health Sciences University, Turkey were recruited. Height and weight z-scores and fasting blood samples were taken at baseline and 6th month. Changes were compared by paired-samples t-test or Wilcoxon signed-rank test. Any association between the changes in growth and biochemical values was analyzed by Spearman's Rank-Order Correlation. The statistical significance threshold was p<0.01. Results: 31 boys aged 74 to 104 months were enrolled in the study sample (mean=87.6, Standard Deviation (SD)=9.2). Osmotic release oral system-MPH (18 mg/day) was used in 77.4% (N=24) and immediate release-MPH (5 mg three times a day) in 22.5% (N=7). Average daily drug dose was 0.66 mg/kg (SD=0.12). Baseline weight z-score was 0.63 (SD=1.12), decreased significantly at 6 months (0.24 [SD=1.04]) (Z=-4.44, p=0.000, r=0.5) (median z-score was 0.53 at baseline, -0.11 at 6 months). Baseline height z-score (0.23[SD=0.87]) was not suppressed significantly at 6 months (0.28[SD=0.85])(t(30) = ‒1.50, p=0.14). Glucose (t(30) = -4.33, p=0.000, r=0.6), creatinine (t(30)=-3.28, p=0.003, r=0.5) and 25OH-VitD (N=29, Z=-3.98, p=0.000, r=0.5) increased but alkaline phosphatase (ALP) decreased (t(28)=3.63, p=0.001, r=0.5). The differences in W-SDS and ALP were positively correlated (r=0.47, p=0.009). Conclusions: Our results indicate the importance of monitoring blood variables that may accompany growth changes early in MPH treatment and should be further assessed in larger samples.

Psychiatric disorders, peer-victimization, and quality of life in girls with central precocious puberty.

OBJECTIVE: To evaluate the psychiatric diagnoses, peer-victimization, quality of life, and emotional and behavioral status of girls with central precocious puberty (CPP). METHODS: A total of 71 girls with CPP and 50 healthy controls participated in the study. All participants were evaluated using a semi-structured interview by a child and adolescent psychiatrist. To assess the peer-victimization, quality of life, depression levels, and emotional and behavioral status, the Olweus Bully/Victim Questionnaire, The Pediatric Quality of Life Inventory (PedsQL), the Child Depression Inventory (CDI) and Strengths and Difficulties Questionnaire (SDQ) was used in this study. RESULTS: Although the difference was not significant, the rate of being diagnosed with at least one psychiatric disorder was higher in CPP group (28%) than in control group (20%). The most common psychiatric disorder was social anxiety disorder (13%) for the CPP group. No significant difference was found between the CPP and the control groups in terms of mean CDI and PedsQL scores. When compared in terms of SDQ parameters, prosocial behavior scale scores were significantly higher in the CPP group than in the control group. Being a victim of bullying was found significantly more frequently in girls with CPP than among the healthy controls (28% vs. 12%). CONCLUSION: Due to the high rates of being bullied, girls with CPP should be screened for peer-victimization. Long-term prospective studies are also necessary to further elucidate the psychological consequences of CPP on girls.

Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?

BACKGROUND AND OBJECTIVES: There are controversial results in the literature regarding urinary electrolytes, especially potassium, in enuretic children. KCNJ10 channel protein, a member of the Kir 4.1 family is expressed in renal distal tubules and has an important function in renal ion transport. We investigated whether KCNJ10 gene polymorphisms are associated with clinical and laboratory findings of a group of Turkish children with monosymptomatic primary nocturnal enuresis (MNE). METHOD: Ninety-seven MNE children and 100 healthy controls were tested for three single nucleotide polymorphisms (SNPs) in the KCNJ10 gene. The transversions in SNPs were G to A for intron 1(SNP1), G to A for exon 2 (SNP2), and T to C transition for promoter (SNP3). All SNPs were genotyped by PCR-restriction fragment length polymorphism. RESULTS: SNP3 in promoter of KCNJ10 gene showed strong association with MNE children for distribution of genotype and allele frequency, while SNP1 in intron 1 and SNP2 in exon 2 were noninformative. The distribution of TT, TC, and CC genotypes for SNP3 was 66%, 26.8% and 7.2% respectively in MNE compared with 38%, 59% and 3% respectively in controls (p < 0.0001). In enuretic children, TT genotype was higher and there was an increased potassium excretion in children with TT genotype (P < 0.05). CONCLUSION: We conclude that KCNJ10 gene promoter polymorphism may have a role on potassium excretion in Turkish MNE children. This is the first study in literature evaluating KCNJ10 gene polymorphism in this patient population. Future studies investigating the other SNPs, mutations or altered regulation of Kir4.1 in larger samples would help clarify the role (s) of KCNJ10 gene in enuresis.

Impact of laparoscopic surgery on bladder and sexual function after total mesorectal excision for rectal cancer.

BACKGROUND: Bladder and sexual dysfunction are well-documented complications of rectal cancer surgery. This study aimed to determine whether laparoscopy can improve the outcome of these dysfunctions or not. METHODS: The study included 63 of the 116 patients who underwent surgery for rectal cancer between 2002 and 2006. Bladder and male sexual function were studied by means of a questionnaire on the basis of the International Prostatic Symptom Score (IPSS) and International Index of Erectile Function (IIEF). In addition, bladder function was determined by means of postvoid residual urine measurement and uroflowmetry. Postoperative functions were compared with the preoperative data to detect subjective functional deterioration. Outcomes were compared between patients who underwent open (group 1, n = 29) and laparoscopic (group 2, n = 34) total mesorectal excision. RESULTS: Only minor disturbances of bladder function were reported for one patient (3%) in group 1 and three patients (9%) in group 2 (p > 0.05). Impotency after surgery was experienced by 6 of 17 preoperatively sexually active males (29%) in group 1 and 1 of 18 males (5%) in group 2 (p = 0.04). Similarly, 5 of 10 women (50 %) in group 1 and 1 of 14 women (7%) in group 2 felt that their overall level of sexual function had decreased as a result of surgery (p = 0.03). CONCLUSIONS: Open rectal cancer resection is associated with a higher rate of sexual dysfunction, but not bladder dysfunction, compared with laparoscopic surgery. Laparoscopic rectal cancer surgery offers a significant advantage with regard to preservation of postoperative sexual function and constitutes a true advance in rectal cancer surgery compared with the open technique. The proposed advantages can be attributed to improvement in visibility by the magnification feature of laparoscopic surgery.