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Depression, levels of anxiety and self-concept in girls with Turner's syndrome.

Self-esteem, depressive symptoms and anxiety symptoms in girls with Turners syndrome (TS) were compared to those in girls with familial short stature (FSS) and healthy controls (NC). Eleven girls with TS, 9-17 years of age, all with 45,X0 karyotype, who were matched with 11 girls with FSS and 11 NC girls who had similar socio-demographic characteristics, were enrolled in the study. The Childrens Depression Inventory (CDI), State-Trait Anxiety Inventory for Children (STAIC), and Piers-Harris Childrens Self Concept Scale (PHSCS) were used to assess the extent of depression, anxiety and self reported self-esteem. The PHSCS means and standard deviations of the TS, FSS and NC groups were 56.2 +/- 6.7, 62.7 +/- 6.9, and 69.3 +/- 6.0, and the STAIC-state anxiety means and standard deviations were 30.6 +/- 4.5, 28.8 +/- 6.1, and 25.7 +/- 3.7, respectively. Study findings showed that girls with TS had lower self-esteem and higher state anxiety levels than NC (p <0.05). In spite of the small sample size, findings showed that girls with TS were at risk of psychological problems. Therefore, in addition to medical treatment and monitoring, girls with TS should also be supported psychologically by social, educational and psychotherapeutic interventions which aim to address their self-esteem and emotional difficulties.

Neurocognitive functions in children and adolescents with subclinical hypothyroidism.

Objective: Hypothyroidism is a metabolic condition that can lead to cognitive and behavioral deficits in children and adolescents. However, there is less evidence about subclinical hypothyroidism (SH) as a risk factor for neuropsychological disorders in childhood. The aim of thisstudy was to evaluate cognitive functions like active/passive attention, maintaining attention, and response inhibition in pediatric patients with SH. Methods: Seventeen patients (between 7-17 years old) with SH were tested with the Stroop test, Verbal Fluency test and the sub-tests of the Wechsler intelligence scale for children-Revised (WISC-R). SH diagnosis was based on the mild increase of serum thyrotropin (TSH) level together with a normal serum free thyroxine level and an exaggerated TSH response to thyrotropin-releasing hormone. Results: Out of seventeen cases, 10 (59%) were girls and 7 (41%) were boys. Six cases were obese and 5 were overweight. The children in the SH group, as compared to the control group, obtained significantly lower scores on both the Digit Span subtest of the WISC-R and the Stroop subtests, which are sensitive to attention. No significant differences were found between the SH group and the healthy controls in verbal fluency and encoding tests. Conclusion: In this study, pediatric patients with SH showed poor performance in tests measuring attention. Therefore, we want to stress the importance of close collaboration between pediatric endocrinology and child and adolescent psychiatry departments. Conflict of interest:None declared.

Celiac disease and autoimmune thyroid disease in children with type 1 diabetes mellitus: clinical and HLA-genotyping results.

Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD. Methods: The association of CD and ATD was evaluated in 38 children with T1D aged 1.5−16.8 years who had been followed for 48.3±28 months. Diagnosis of CD was based on positivity for serum endomysial IgA antibody and histopathological findings of intestinal biopsy specimens. Thyroid autoimmunity was assessed by antithyroglobulin and antithyroid peroxidase antibodies and with diagnostic ultrasonographic findings. Results: ATD was detected in 31.5%, and CD−in 7.8% of T1D patients. Subjects with CD showed either no symptoms or suggestive problems such as short stature, hepatosteatosis, pubertal delay and difficulties in the control of diabetes. Patients with ATD had no clinical symptoms. DQ8 was the most prominent finding in CD. Conclusions: It is essential that patients with T1D, regardless of presence or absence of symptoms, should be investigated for CD and ATD. Conflict of interest:None declared.

Latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and Celiac disease.

Latent autoimmune diabetes mellitus in adults (LADA) is characterized by clinical presentation as type 2 diabetes mellitus after 25 years of age, initial control achieved with oral hypoglycemic agents for at least 6 months, presence of autoantibodies and some immunogenetic features of type 1 diabetes mellitus. An 8.3 year-old girl was referred to our pediatric endocrinology department because of incidental glucosuria. She did not complain of polyuria, polydipsia, or weight loss. Her body mass index (BMI) was at the 80th percentile. Fasting glucose was 126 mg/dl, and OGTT glucose level at 120 min was 307 mg/dl. Although C-peptide levels were normal, her first phase insulin response (FIR) was lower than the 1st percentile. Anti-insulin antibody (AIA), islet cell antibody (ICA), and anti-glutamic acid decarboxylase (antiGAD) were negative. According to the clinical and laboratory findings, she was diagnosed as having type 2 diabetes mellitus. She was started with oral anti-diabetic treatment for a period of 1 year. Insulin had to be initiated for worsening of HbA1c levels. In the fourth year of follow-up, she was admitted to our hospital with diabetic ketoacidosis although she was on an intensive insulin regimen. At this time, C-peptide levels were low, antiGAD and AIA were positive with HLA DR3/DQ2 haplotype. In addition, her thyroid peroxidase antibody and endomysium antibody were found to be high at follow-up. Small intestinal biopsy revealed celiac disease. This patient may represent the first case of latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and celiac disease.

Paternal X could relate to arithmetic function ; study of cognitive function and parental origin of X chromosome in Turner syndrome

Background: 45,X Turner syndrome (TS) female subjects have visuospatial skill and social cognition deficits that may arise from X‐linked imprinting. The aim of the present study was to compare phenotypic characteristics and neurocognitive pattern of 12 monosomic TS girls, according to X‐linked imprinting.

Functional ovarian hyperandrogenism and polycystic ovary syndrome in prepubertal girls with obesity and/or premature pubarche

AIMS Functional ovarian hyperandrogenism (FOH) is considered to be a form of polycystic ovary syndrome (PCOS) at adolescence. There are almost no data in the prepubertal period, although one of the earliest manifestations of PCOS is premature pubarche. Prepubertal girls with obesity or insulin resistance are also at risk to develop the full PCOS phenotype after puberty. The aim of this study was to evaluate prepubertal girls with premature pubarche and/or obesity for PCOS or FOH. METHODS Twenty-seven prepubertal girls with premature pubarche and/or obesity aged >6 years were evaluated. FOH was defined as abnormal ovarian 17OHP response to challenge with GnRH analog of >2 ng/ml after exclusion of adrenal dysfunction. All patients underwent a pelvic ultrasound examination. RESULTS Sixteen patients had premature pubarche, seven were obese, and four had both premature pubarche and obesity. Eleven of 27 patients (40.7%) showed high (>2 ng/ml) 17OHP response to GnRH challenge. Three patients (11%) with FOH also showed PCO morphology on pelvic ultrasound examination. CONCLUSION In prepubertal girls who carry risk factors, including genetic polymorphisms and/or particular environmental factors, FOH/PCOS could develop at a high rate.

Evaluation of Thyroid Functions with Respect to Iodine Status and TRH Test in Chronic Autoimmune Thyroiditis

Objective: Chronic autoimmune thyroiditis (CAT) is the most common form of thyroiditis in childhood and a frequent cause of acquired hypothyroidism. The objective of this study was to evaluate the thyroid status of childrenand adolescents with CAT with respect to iodine status and diagnostic values of thyrotropin-releasing hormone (TRH) test. Methods: Seventy-one children (mean age: 11.6 years) were studied in a retrospective analysis. Free thyroxine (T4), thyrotropin (TSH), TSH response to TRH test, thyroid autoantibodies, thyroid sonography, and urinary iodine excretion (UIE) were evaluated. Results: At diagnosis, 8.5% of patients had overt hypothyroidisim and 36.6% subclinical hypothyroidism; 5.6% had overt hyperthyroidisim and 8.5% had subclinical hyperthyroidism. Of them, 40.8% were euthyroid. Median UIE was 51 mg/L in overt hypothyroidism and 84 mg/L in subclinical hypothyroidism. The values were 316 mg/L and 221 mg/L in overt and subclinical hyperthyroidism, respectively. Basal TSH showed a strong correlation with peak TSH level on TRH test. Thirty-four percent of patients with normal basal TSH level showed an exaggerated TSH response. Conclusion: Iodine deficiency was seen more in cases with hypothyroidism, while excess of iodine was observed to be more frequent in hyperthyroid patients. Iodine status was a strong predictorof the thyroid status in CAT. TRH test may be helpful in further delineating patients with subclinical hypothyroidism. Conflict of interest:None declared.

Incidence of iodine deficiency in patients presenting with goitre--discrepancy between clinical and ultrasonographic evaluation of the thyroid: comparison of patients with and without autoimmune thyroiditis--clinical, hormonal and urinary iodine excretion studies.

In endemic areas iodine deficiency, and in iodine sufficient regions autoimmune thyroiditis, is the first aetiological factor for goitre. The aims of this study were to determine the incidence of iodine deficiency and autoimmune thyroiditis in patients presenting with goitre, to compare clinical and ultrasonographic assessment of thyroid size and to investigate the relationship between iodine and autoimmune thyroiditis. Patients diagnosed with goitre clinically (n = 204) were evaluated by their anthropometric measurements, ultrasonographic examination of the thyroid gland, thyroid function and TRH stimulation tests, thyroid autoantibodies and morning urinary iodine measurements. Thyroid volumes were evaluated according to three different reference criteria. Incidences of iodine deficiency and autoimmune thyroiditis were 54% and 17%. The incidences of iodine deficiency and excess were not significantly different in the autoimmune group (n = 35) compared to the non-autoimmune group (n = 169). In the autoimmune group, urinary iodine concentration correlated positively with serum thyroid hormones (FT3 r = 0.42, TT3 r = 0.38, TT4 r = 0.34) and negatively with serum TSH levels (r = 0.45). There were discrepancies between clinical and ultrasonographic evaluation of goitre, and between different reference criteria. This study revealed that iodine deficiency is still the first aetiological factor for goitre in our region and failed to show a relationship between iodine intake and autoimmune thyroid disease.

Maternal/Neonatal iodine status in patients with prolonged physiological jaundice.

BACKGROUND The increasing knowledge indicated that borderline hypothyroidism may cause neurodevelopmental disorders. Borderline compensated congenital hypothyroidism could caused by iodine deficiency or iodine overload. One of the most important etiological factors causing prolonged jaundice in the neonatal period is congenital hypothyroidism. Aimed of this study is to investigate the frequency of borderline or overt hypothyroidism in a group of newborn with prolonged physiological jaundice, and to evaluate iodine status of these babies and their mothers. METHODS Fifty-five apparently healthy newborn were evaluated. Twenty-five of them showed borderline thyroid dysfunctions. Remained 30 babies had normal thyroid function, considered as euthyroid group. Iodine status was evaluated by measuring urinary iodine excretion. RESULTS According to UIE, maternal iodine deficiency (55%) associated with neonatal iodine overload (65%) had came to attention. Although mean urinary iodine levels in both mother groups were similar, the mean urinary levels of borderline hypothyroidic and euthyroid groups were 432+/-129 microg/l and 271.5+/-137 microg/l, respectively. Iodine overload was also presence in newborn with normal thyroid function tests. CONCLUSION We considered that individual sensitivity to iodine overload could make the differentiation on thyroid function. Iodine overload in important degree seen in borderline hypothyroidic babies emphasize the harmful effect of topical antiseptic iodine application that given to mothers during labor. This application could also mask possible prenatal iodine deficiency.

Importance of thyroglobulin levels for diagnosis and monitoring of follicular thyroid carcinoma in an adolescent with severe iodine deficiency.

Optimal management of differentiated thyroid cancer in childhood is undetermined. During monitoring of thyroid carcinoma, serum thyroglobulin (hTG) levels provide valuable information. hTG levels not only increase in differentiated thyroid cancers but also in iodine deficiency because of compensation by the thyroid gland. A 14.6 year-old girl was diagnosed with nodular goiter, subclinical hypothyroidism and severe iodine deficiency. She had a very high hTG level. Despite benign fine-needle aspiration biopsy (FNAB), because the hTG level was still very high after treatment with LT4, thyroidectomy was undergone. Cytopathological examination showed minimally invasive follicular thyroid carcinoma. During follow-up, to exclude the presence of persistent/recurrent disease, the hTG level rose to an undesirably high level after withdrawal of TSH suppressive therapy, and radioiodine ablation therapy was applied. This report shows that even if there is an explanation for nodular goiter and high hTG levels, such as iodine deficiency, malignancy cannot be ruled out without thyroidectomy. FNAB is not reliable especially in iodine deficient areas. Serum hTG measurement is a valuable tool for both diagnosis and follow-up of differentiated thyroid carcinoma in children.