Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.

Does Subclinical Hypothyroidism Affect Dynamic Thiol / Disulfide Homeostasis and Ischemia-modified Albumin Levels in Children?

OBJECTIVE: To determine the effects of subclinical hypothyroidism on oxidative stress in children. STUDY DESIGN: A cross-sectional study. PLACE AND DURATION OF STUDY: Department of Paediatrics, Paediatric Endocrinology, and General Outpatient Clinics, Kirikkale University, School of Medicine, from May 2017 to October 2018. METHODOLOGY: This study included 92 subjects aged between 2 and 18 years. The subjects were divided into two groups. Forty-seven children with subclinical hypothyroidism and 45 healthy controls were evaluated. In order to evaluate oxidative damage, native thiol, total thiol, disulfides, their ratios, and ischemia-modified albumin (IMA) levels were compared between the two groups. The relationship between TSH and IMA levels was assessed. RESULTS: Age and gender were not significantly different in the two groups. Native thiol, total thiol, disulfides and their ratios were similar in the two groups. Ischemia-modified albumin levels were significantly higher in the patient group than the controls (p<0.001). There was no correlation between TSH and IMA levels in the patient group (r=0.069 p=0.645). CONCLUSION: Subclinical hypothyroidism may be related to the impairment of IMA, and have a neutral effect on thiol/disulfide balance. Further research is needed to explain the effects of oxidative stress in subclinical hypothyroidism. Key Words: Subclinical hypothyroidism, Childhood, Oxidative stress.

The effect of subclinical hypothyroidism on body composition parameters in children.

BACKGROUND: It's known that overt hypothyroidism increases body fat content and weight. There's limited research about the effect of subclinical hypothyroidism (SH) on body composition in children and the effect of LT4 treatment. We aimed to evaluate body composition parameters in healthy subjects and in children with mild SH (MSH) and determine the effect of LT4 treatment. METHODS: Sixty-four healthy children and 32 children with MSH were included. Anthropometric measurements and hormonal parameters were evaluated. Body composition was evaluated using bioelectric impedance analysis (BIA). Patients were put on LT4 treatment. BIA was performed again after 12 months of therapy. RESULTS: There was no significant difference between the anthropometric parameters and basal metabolic rate of the healthy children and the MSH group. The percentage of trunk muscle mass (TMM) in the MSH group was lower than in the control group (P < .05). After 12 months of LT4 treatment, the percentage of total fat-free mass (FFM), TMM and trunk fat-free mass (TFFM) were increased and percentage of total body fat mass and trunk fat mass were decreased (P < .05). The difference between the percentage of TMM in the MSH group and control group was insignificant after LT4 treatment (P > .05). CONCLUSIONS: The percentage of TMM in children with MSH was found lower than healthy control group. After LT4 treatment, the percentage of the FFM, TMM and TFFM were increased and the difference between percentage of TMM in children with MSH and healthy controls was insignificant. Our data indicated that MSH might be associated with early changes in body composition parameters.

Methylphenidate and Central Precocious Puberty: A Probable Side Effect among Seven Children with the Attention Deficit Hyperactivity Disorder.

Methylphenidate (MPH) is the most preferred drug for treatment of the attention deficit hyperactivity disorder (ADHD). Here, we aimed to discuss the possible effects and mechanisms of MPH on precocious puberty (PP) via a case series with seven children who had normal body mass index. In this case series we evaluated seven children with ADHD, who had received MPH for at least 6 months (0.5 mg/kg/dose three times a day, maximum 60 mg) and admitted to Department of Pediatric Endocrinology with PP symptoms. The mean age was 8.16 years. Basal hormonal levels (luteinizing hormone [LH], follicle stimulating hormone, and estrogen/testosterone) were within normal range. Results of LH-releasing hormone stimulation tests demonstrated central pubertal responses. Glutamine, dopamine and noradrenaline are most important excitatory neurotransmitters that have a role at the beginning of puberty. The effect of MPH, cumulating dopamine and noradrenaline in the synaptic gap could be associated with the acceleration of puberty with the excitatory effect of dopamine’s gonadotropin-releasing hormone (GnRH) release, excitatory effect of noradrenaline’s GnRH release and the disappearance of GnRH receptor expression suppressor effect on prolactin disinhibitory effect.

Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with non-syndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.

Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children

Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level >150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61%) from 11 centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15±3.2 mg/dL, 5.2±1.2 mg/dL, 268±132 IU/L, 322 (236-454) ng/mL, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (rs=0.402, p<0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p<0.001). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered.

Intracranial Lesions in Children and Adolescents with Morbid Obesity.

BACKGROUND: Intracranial lesions may affect the hypothalamo-hypophyseal axis and lead to some neuro-endocrinological dysfunctions (hyperphagia, sleep disorders and hormonal dysfunctions). There is a very limited number of studies about childhood obesity and intracranial lesions. AIMS: To evaluate the incidence of intracranial lesions and its role in clinical symptoms and aetiology in cases with morbid obesity who have been admitted to the paediatric endocrinology department with this complaint. STUDY DESIGN: Cross-sectional study. METHODS: A total of 120 cases admitted to the paediatric endocrinology department with the complaint of morbid obesity between 2002 and 2015 were included in this study. A detailed history was taken and a physical examination was performed; biochemical, hormonal parameters were evaluated. Contrast dynamic magnetic resonance imaging was performed in order to visualize cranial pathologies. RESULTS: An intracranial lesions was detected in 16.6% of the patients and 55% of these lesions were adenoma of the hypophysis. Prolactin levels were increased in six patients but front hypophyseal hormone levels were within normal range in the rest of the patients. Growth velocity of the patients was not affected. CONCLUSION: In our study, the incidence of intracranial lesions in children and adolescents with morbid obesity was much higher than in the normal population. According to this data, we are of the opinion that contrast dynamic magnetic resonance imaging is helpful in children with morbid obesity for the early detection of the mass before it causes any clinical or neurological symptoms and in the prevention of future complications.

Amylase/creatinine clearance ratio in diabetic ketoacidosis: a case report.

Diabetic ketoacidosis (DKA) accompanies any other intra-abdominal pathology. Serum amylase/lipase levels are commonly used in order to rule out acute pancreatitis in patients having abdominal pain in DKA. A more specific and noninvasive diagnostic tool - amylase/creatinine clearance ratio (ACCR) - can be used to rule out pancreatitis in patients with DKA. A 14-year-old girl was admitted with abdominal pain and nausea. She had been followed up for type 1 diabetes mellitus for the last 5 years. The serum amylase levels were increased up to 687 U/L (normal: 28-120 U/L) on the third day of hospitalization. Simultaneous serum and urinary amylase concentrations were measured, and ACCR was calculated (1.2%). The diagnosis of pancreatitis was ruled out. The serum amylase levels decreased in the following days, and she was discharged. ACCR determination is a simple and specific test to diagnose pancreatitis, especially in patients with DKA.

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 this study 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.

Bloody nipple discharge in 2 infants with interesting cytologic findings of extramedullary hematopoiesis and hemophagocytosis.

Bloody nipple discharge in the infantile period is an uncommon finding. Despite its stressful course to the parents, it is generally a benign condition with a spontaneous resolution. The approach to bloody nipple discharge in the infantile period is well documented in the literature even though the number of these cases is limited. We report 2 infants with unilateral bloody nipple discharge. Their physical examination, laboratory, and ultrasound findings were normal but the cytologic examinations of the discharge revealed signs of extramedullary hematopoiesis and hemophagocytosis. These extraordinary findings made us brainstorm on the probable ongoing processes in the infantile breast tissue.

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 children and 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.

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.

Psychopathology and its effect on treatment compliance in pediatric obesity patients.

Obesity is a common health problem in children and adolescents and has life-threatening physical complications as well as psychological consequences, including negative self-image, low self-esteem and social difficulties. Psychiatric disorders, especially depression and anxiety disorders, are present at higher rates in obese patients. The aim of this study was to investigate the presence and type of psychopathology in a group of obese children and to determine the effect of comorbid psychiatric disorders on treatment compliance. Fifty-four obese patients were evaluated by clinical interviews as well as Schedule for Affective Disorders and Schizophrenia for School-Age Children, Present and Lifetime Version (KIDI-SADS-PL) for psychiatric diagnosis. Fifty percent of the sample was found to have psychopathology and treatment compliance was found to be poor in the group with comorbid psychiatric disorders. This shows that child and adolescent psychiatrists should be included as team members while treating pediatric obese patients.

Vitamin D deficiency in Turkish mothers and their neonates and in women of reproductive age.

OBJECTIVE: Materno-fetal vitamin D deficiency (VDD) may occur in the early neonatal period. We aimed to evaluate the vitamin D (vitD) status and risk factors for VDD in healthy newborns and their mothers, and also in fertile women. METHODS: Serum 25 hydroxyvitamin D3 (25(OH)D), calcium (Ca), phosphorus (P) and alkaline phosphatase (ALP) levels were measured in 70 mothers (study group) and their newborns, and in umbilical cord samples. 104 nonpregnant fertile women comprised the control group. Demographic factors such as education and clothing habits of the mother, number of pregnancies and month of delivery were recorded. A serum 25(OH)D level below 11 ng/ml was accepted as severe, 11-25 ng/ml as moderate VDD, and a value over 25 ng/ml as normal. RESULTS: Severe VDD was found in 27% of the mothers, and moderate deficiency in 54.3%. Severe VDD was detected in 64.3% of the neonates, and moderate deficiency in 32.9%. Only 18.6% of the mothers and 2.9% of the neonates had normal vitD levels. In the control group, severe VDD was observed in 26.9%, and moderate deficiency in 45.2%. Only 27.8% of the controls had normal vitD levels. In the control group, the 25(OH)D levels of the women dressed in modern clothes were significantly higher than those of the women wearing traditional clothes. This difference was not observed in the study group because 75% of these 70 mothers wore modern clothes. Mothers giving birth during the summer months and their neonates had significantly higher serum 25(OH)D levels than those of the mothers giving birth during the winter months and their neonates. CONCLUSION: The study has shown that in Turkey VDD is an important problem in women of reproductive age, in mothers and their neonates. The 25(OH)D levels obtained from the cord may serve as a guide in the determination of the high risk groups.

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. METHODS: Microsatellite markers were used to determine the parental origin of the missing chromosome X. Wechsler Intelligence Scale for Children-Revised (WISC-R) was administered as measures of general intellectual functioning. The results were compared in TS patients with maternally derived X chromosome (Xm) and paternally derived X chromosome (Xp). RESULTS: Six out of 12 patients (50%) had Xm, and the other six (50%) had Xp chromosome. There was no difference in the total, verbal and performance IQ score between the TS subgroups with Xm and Xp. When the WISC-R subtest score patterns were compared, the mean arithmetic scores were significantly poorer in the Xm TS than in the Xp TS. CONCLUSION: In monosomic TS cases, paternal imprinting may predict arithmetic ability, on the other hand, reductionist consideration defined by genetic imprinting is not sufficient to confirm this. Further studies should be undertaken to clarify this situation.

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.

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.

The most complicated group of sexual differentiation disorders is that of gonadal development. Disorders of gonadal development form a wide clinical, cytogenetic and histopathological spectrum. There are still some unsolved difficulties of diagnosis, development of malignancy and the sex rearing of these patients. We reviewed 23 cases of gonadal developmental disorders among 169 patients with ambiguous genitalia or delayed puberty. Among 169 patients, 87 patients were 46,XY disorders of sex development (DSD), 59 patients were 46,XX DSD without disorders of gonadal development and the remaining 23 patients had disorders of gonadal development. Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. Four patients had the male genital phenotype. Disorder of gonadal development is a very important clinical problem with different aspects of diagnosis, treatment, rearing sex and prophylaxis. Each patient should be evaluated individually employing a multidiciplinary approach.

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.

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.