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There is a growing concern over the timing of pubertal breast development and its possible association with exposure to endocrine disrupting chemicals (EDCs), such as bisphenol A (BPA). BPA is abundantly used to harden plastics. The aim of this study was to investigate the relation between premature thelarche (PT) and BPA by comparing the urinary BPA levels of PT girls with those of healthy subjects. Twenty-five newly diagnosed nonobese PT subjects (aged 4-8 years) who were admitted to the Pediatric Endocrinology Department at Akdeniz University were recruited. The control group composed of 25 age-matched girls without PT and other endocrine disorders. Urinary BPA levels were measured by high pressure liquid chromatography. The median urinary concentrations of BPA were found to be significantly higher in the PT group compared to the healthy control group (3.2 vs. 1.62 µg/g creatinine, p < 0.05). We observed a weak positive correlation between uterus volume and urinary BPA levels. There was a weak correlation between estradiol and urinary BPA levels ( r = 0.166; p = 0.37); and luteinizing hormone and urinary BPA levels ( r = 0.291; p = 0.08) of PT girls. Our results suggest that exposure to BPA might be one of the underlying factors of early breast development in prepubertal girls and EDCs may be considered as one of the etiological factors in the development of PT.

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Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-l-phosphotransferase. It is a severe inborn error of lysosomal storage that causes progressive multisystem deterioration and death within the first year of life. The diagnosis of ML II is often difficult in an infant due to clinical variety, phenotypic overlap and the enzyme analysis required. Mucolipidosis II and rickets may have similar physical, biochemical and radiographic findings in newborns. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease.

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AIM: Recently, it was reported that the development of breast tissue and secondary sex characteristics in girls occurred at much younger age and the incidences of premature thelarce (PT) and central idiopathic precocious puberty (ICPP) are increasing. In this context, we wanted to evaluate the mycoestrogen exposure as triggering factor for premature sexual development. METHODS: The girls living in Mediterranean region of Turkey were divided in to three groups: control (N.=25; mean age: 6.45 ± 1), PT (N.=28; mean age: 6.86 ± 0.95) and ICPP (N.=25; mean age: 6.97 ± 0.87). Urinary ZEN levels were measured by using ELISA technique and were normalized by urinary creatinine levels. Body Mass Index (BMI) was evaluated and sex hormone levels were also measured. RESULTS: We found that urinary ZEN was detectable in ~81% of all samples and observed an increase of ~2-fold in PT and a significant increase ~2.8-fold in ICPP group vs. control. We did not find any significant correlations between urinary ZEN levels and BMI and sex hormones in any of the groups. CONCLUSION: To our knowledge, this is the first study evaluating urinary ZEN levels in PT and ICPP Turkish patients. We can postulate that ZEN exposure can contribute to the etiology of PT and PP; however further studies on large number of subjects are needed to confirm the present data.

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Neonatal/infancy-onset diabetes mellitus is a monogenic form of diabetes with onset within 6 months of age. Two distinct types of neonatal diabetes mellitus have been recognized: permanent and transient. Mutations within the K(+)ATP channel and insulin genes are found in most patients with permanent diabetes mellitus. There have been several reports of the successful transition from insulin to sulfonylurea agents in patients with permanent diabetes mellitus caused by mutations in the KCNJ11 gene. We report on a term female neonate with a novel missense mutation, p.P1199L, in the ABCC8 gene that encodes the sulfonylurea receptor 1 whose treatment was successfully converted from insulin to sulfonylurea.

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Our aim was to evaluate prospectively, in our diabetic patients, the impacts of a summer camp and intensive insulin treatment (IIT) on both metabolic control and disease-related educational level. Twenty-five patients participated in a 7-day-long summer camp. Before the camp, all patients were on therapy with short-acting human insulin (SAI) and intermediate-acting insulin (IAI) twice daily. On arrival, their insulin therapy regimen was changed by IIT including either SAI or rapid-acting insulin analogue (RAI) three times before meals supplemented by IAI at bedtime. Following the camp, all participants were given IIT with RAI plus IAI. Frequency of hypoglycaemia, insulin dose, body mass index (BMI) and glycohaemoglobin (HbA1c) levels were assessed at pre-camp and post-camp controls. To evaluate the effectiveness of camp-assisted education, all participants were regularly tested. We observed significant elevations in total daily dose of insulin and BMI at months 3 and 6 when compared with the pre-camp values but, by month 12, they were not significantly different from precamp values. The mean HbA(1c) level decreased significantly at months 6 and 12. Severe hypoglycaemic episodes and ketoacidosis were not detected during the camp and the following year. Significant improvements in knowledge about diabetes and self-management were determined at the end of the camp, after 6 and 12 months. Camp-assisted IIT with RAI improved metabolic control of diabetic children. Additionally, camp-assisted education has a positive effect on disease-related educational level and self-management.

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AIM: To compare the growth response to growth hormone (GH) treatment in patients with idiopathic GH deficiency (IGHD) who were prepubertal with the response of those who were pubertal at the onset of GH therapy on an increased GH dose. PATIENTS AND METHODS: Among the Turkish patients enrolled in the Pfizer International Growth Study (KIGS) database with the diagnosis of IGHD, the growth data over 2 years of GH therapy were analyzed longitudinally of 113 (79 M) prepubertal (Group 1) and 44 (33 M) pubertal (Group 2) patients. Pubertal signs were reported to be present initially or to have appeared within 6 months of GH therapy in Group 2. Mean +/- SD age at onset of therapy was 8.7 +/- 3.5 and 13.5 +/- 1.8 years; height SDS -4.2 +/- 1.4 and -3.2 +/- 1.1 (p < 0.05) in Groups 1 and 2, respectively. Mid-parental height (MPH) SDS did not show a significant difference between the two groups (-1.5 +/- 1.1 vs -1.7 +/- 1.1). RESULTS: Delta height SDS over 2 years of therapy was significantly higher in Group 1 (1.1 +/- 1.0) than in Group 2 (0.7 +/- 0.6) (p <0.05) in spite of a significantly lower dose of GH (14.6 +/- 3.3 in Group 1 vs 17.0 +/- 3.1 IU/m2/week in Group 2, p < 0.05). Ht--MPH SDS showed an increase from -2.4 +/- 1.7 to -1.4 +/- 1.5 in Group 1 and from -1.5 +/- 1.5 to -0.8 +/- 1.3 in Group 2. Overall delta height SDS showed negative correlations with age (r = -0.32), height SDS (r = -0.41) and height--MPH SDS (r = -0.40) at onset of therapy (p < 0.001). CONCLUSIONS: These data show that in IGHD the slight increase (15-20%) in the dose of GH during puberty was not adequate to maintain height velocity at the same magnitude as in prepuberty, and thus was not cost effective.

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Remittent isolated palsy of peripheral or of upper cranial nerves in diabetic patients is well documented, but paralysis of a lower cranial nerve or an isolated branch of any cranial nerve has rarely been reported. In the case described, besides temporary hypoglossal and facial nerve palsies previously, unilateral temporary vocal cord palsy caused by right inferior laryngeal nerve (recurrent) paralysis associated with type 1 diabetes mellitus is presented. Hoarseness and vocal cord palsy of the patient, as in the case of her first admission with other complaints due to other cranial nerve palsies, totally remitted, presumably both owing to improved metabolic control.

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Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally.

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Ultrasound is a safe, non-invasive technique that provides a more precise and objective method of determining thyroid volume than inspection and palpation, particularly in areas of mild endemicity, and generally whenever goiters are small. Thyroid volume is also correlated with age, weight, height and body surface area (BSA) in non-iodine-deficient areas. Different authors prefer different parameters to assess thyroid gland volumes. In this study, thyroid volumes were determined using ultrasound in 605 school children aged 6-11 yr who had been living for at least 5 years in Antalya. The correlation between age, BSA, height, weight, BMI and thyroid volume was sought in this mild to moderate iodine-deficient area. Somatic development of our children was in the normal range. Thyroid volume was significantly correlated with age (r=0.41, p<0.001), height (r=0.33, p<0.001), weight (r=0.30, p<0.001), BSA (r=0.33, p<0.001), and BMI (r=0.13, p<0.001). The most significant correlation was found to be with age. The application of the International Council for Control of Iodine Deficiency Disorders (ICCIDD) and the World Health Organization (WHO) thyroid volume references to our subjects resulted in prevalence estimates of enlarged thyroid of 31% based on BSA and of 34% based on age. In conclusion, when thyroid volumes are to be compared with reference values, assessment of thyroid volumes based on age is the most reliable method, in the event of normal somatic development.

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The thyroid hormone profile was investigated in goitrous schoolchildren aged 6-11 years living in Antalya, an area with mild/ moderate iodine deficiency. With few exceptions, the serum levels of T4 and TSH were in the normal range in children with different grades of goiter. Compensatory elevated T3 levels were detected in 24% of the subjects. Thyroid hormones did not differ significantly with respect to the urinary iodine (UI) level. No correlations were found between thyroid volume, UI excretion level and thyroid hormones. It was concluded that thyroid hormones, except compensatory T3 elevation in some subjects, were not affected significantly in a mild/moderate iodine deficient area.

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Goiter prevalence and urinary iodine excretion levels were assessed in 605 schoolchildren (301 males and 304 females), aged 6-11 years, living in the Antalya region, a well known endemic goiter area in Turkey. Goiter prevalence was evaluated by clinical examination and ultrasound of the thyroid gland. Urinary iodine levels were expressed as microg/g creatinine. Goiter by inspection and palpation was found in 35% (n = 212) of all subjects, in 37.5% (n = 114) of girls and 32.5% (n = 98) of boys. Iodine deficiency of moderate degree was detected from the point of goiter prevalence. With regard to the upper limits of reference thyroid volumes reported by WHO and ICCIDD, goiter by ultrasonography was found in 34% (n = 206) of all subjects, in 36.8% (n = 112) of girls and 31% (n = 94) of boys. Median iodine/creatinine ratios of all subjects, and goitrous and non-goitrous subjects, were 64.1+/-20.1, 62.8+/-21.8 and 64.9+/-19.1 microg/g, respectively. Urinary iodine excretion levels revealed mild iodine deficiency in the region. No significant correlation was observed between urinary iodine excretion levels and thyroid volumes (r = 0.12, p>0.05). Iodine deficiency of mild to moderate degree in schoolchildren aged 6-11 years was detected in Antalya. It was concluded that urgent measures must be undertaken to eradicate iodine deficiency in the region.

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To evaluate the effectiveness of diabetic summer camps with objective parameters, we examined the data relative to summer camps organized by our department in Antalya in the last two years. The duration of the camps was 10 days. Twenty-eight diabetic children with an average age of 13.6 +/- 2.9 years (range 8-20) participated in the first camp, fourteen of whom participated in both camps. The medical personnel consisted of three pediatric endocrinologists, one psychologist, two diabetes nurses and two dietitians. Despite a mean 10% reduction in insulin dosage and 10% increment in daily calorie intake at the beginning of the camp, hypoglycemia was common (mean, 2.4 hypoglycemic episodes per subject). Ketoacidosis was not encountered in any of the subjects during and after camps. An increment in weight in children whose weights, with respect to heights, were under the ideal weight and a decrement in weight of overweight children were observed at the end of the first camp. A significant improvement in knowledge and self-management of the disease was noted at the end of the camps. Improvement in nutrition and diabetic knowledge level of the children who participated in these consecutive camps was more obvious in the second compared with that in the first camp. No significant change in HbA1c level was observed at follow-up. In conclusion, summer camps are an invaluable way for diabetic children to gain skills in managing their disease.

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Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301-302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different countries. Our results show that 55% (11 of 20) of PROP1 alleles have the 301-302delAG deletion in familial CPHD cases. Interestingly, although only 12% (5 of 42) of the PROP1 alleles of our 21 sporadic cases were 301-302delAG, the frequency of this allele (in 20 of 21 of the sporadic subjects given TRH stimulation tests) was 50% (3 of 6) and 0% (0 of 34) in the CPHD cases with pituitary and hypothalamic defects, respectively. Using whole genome radiation hybrid analysis, we localized the PROP1 gene to the distal end of chromosome 5q and identified a tightly linked polymorphic marker, D5S408, which can be used in segregation studies. Analysis of this marker in affected subjects with the 301-302delAG deletion suggests that rather than being inherited from a common founder, the 301-302delAG may be a recurring mutation.

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BACKGROUND: Microalbuminuria has been shown to be predictive for clinical diabetic nephropathy. Renal functional reserve (RFR), as a response to protein loading in a short period of time, is a parameter to assess the ability of kidneys to increase the glomerular filtration rate (GFR). The aim of this study was to predict the early phase of diabetic nephropathy by measuring urinary albumin level and RFR capacity in patients with insulin-dependent diabetes mellitus (IDDM). METHODS: Twenty-two patients with IDDM were studied: 11 with a disease duration of less than 5 years (group 1) and 11 with a disease duration of more than 5 years (group 2). As the control group, 15 healthy children (group 3) were included in the study. At the beginning of the study, glucose was measured and the urinary albumin/creatinine ratio was calculated. Average glycosylated hemoglobin (HbA1c) over 1 year was determined. After protein loading (red meat containing 2 g/kg of protein), the creatinine clearance was calculated at each hour for a duration of 4 h. The RFR was accepted as the peak percentage increase in GFR over the baseline value. RESULTS: Although metabolic control in group 2 was better, the RFR in group 2 was significantly lower than in group 1 (P < 0.05). Urinary microalbumin levels between the groups did not differ (P > 0.05). In two patients in whom microalbuminuria was detected, the RFR was much lower. CONCLUSIONS: Detecting lower RFR levels in patients with normal urinary albumin excretion, as well as in patients with microalbuminuria, may support the idea that the RFR capacity is more sensitive than microalbuminuria in assessing the early phase of diabetic nephropathy.

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A screening program was conducted to ascertain the incidence of hemoglobinopathies in the district of Antalya, Turkey. The survey sample was selected from the household registration forms of health centers by systematic random sampling. Heparinized blood samples were collected from 1,616 subjects from 884 families. The prevalence of beta thalassemia traits with increased Hb A2 was 10.2%. This is higher than that found in previous studies performed in Antalya. The prevalence of abnormal hemoglobins (Hbs) was found to be 0.8%. Four subjects had Hb AS; five had Hb D-Los Angeles (B 121 [GH4] Glu-Gln); one had Hb Ube-2 (68 [E1] Ans-Asp), one had Hb P-Nilotic (fusion between B 22 and) and two had Hb D-like variants.

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BACKGROUND AND METHODS. Growth and endocrine disturbances are still important problems for patients with thalassemia major, which is a major health problem in southern part of Turkey. In the present study 71 thalassemia major patients over 3 years of age were evaluated for physical and sexual maturation status. RESULTS AND CONCLUSION. Twenty-three patients (32.4%) were below the third centile for height. Growth retardation was more pronounced in patients 10 years of age and up according to height and weight standard deviation scores (SDS). Delay in bone age SDS was found in almost all patients, and 74.5% of our patients over 12 years of age had not yet entered puberty. These results show that growth and endocrine disturbances have significant negative effects in the quality of life of thalassemic patients. More detailed studies will help to solve these problems.

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Since 1977, various reports have been published concerned with locomotor system involvement in thalassaemia minor. In this blind study, a further 80 cases with thalassaemia minor were evaluated and compared with 63 healthy controls. In 52% of thalassaemia minor cases and 54% of controls, varying musculoskeletal involvement was found by means of history, clinical examination and radiological investigation. Three patients had a history of short-lived arthritis. It was concluded that arthralgia was the most frequent finding, and hands (wrist) and shoulders were mostly involved.

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