Choroidal thickness and choroidal vascularity index changes in children with type 1 diabetes mellitus without retinopathy.

BACKGROUND: Diabetic retinopathy is one of the most important causes of low vision in the working age group. Retinopathy findings start earlier and have a worse prognosis in type 1 DM. The aim of the this study was to compare the choroidal thickness (CT) and choroidal vascular index (CVI) values of type 1 diabetes mellitus (DM) patients without retinopathy findings in pediatric patients and healthy children. METHODS: The study included 89 children, including 43 type 1 DM patients and 46 healthy controls. The age, gender, duration of DM, hemoglobin A1c (HbA1c), refractive error, intraocular pressure (IOP) and axial length (AL) of the participants were noted. CT measurements were performed subfoveally, 1000 µm from the fovea in the nasal and temporal quadrants. The total choroidal area (TCA), luminal area (LA) and stromal area (SA) were calculated using the binarization method using the image J program. The CVI was determined by dividing the luminal area by the total choroidal area. RESULTS: There were no significant differences between the participants in terms of age, gender, spherical equivalent, IOP, and AL. There was no significant difference between the groups in terms of CT. TCA, LA and SA values were significantly higher in the Type 1 DM group (p=0.034, p=0.036, p=0.037, respectively). There was no significant difference between the groups in terms of the CVI. CONCLUSIONS: The TCA, LA, and SA values were significantly higher in the type 1 DM group. LA/SA and CVI values were lower in the type 1 DM group, although not significantly. There was a negative correlation between the duration of DM and LA/SA as well as CVI. This suggests that vascular reduction starts in the early stages.

Effects of Obesity on the Auditory Function of Children and Adolescents

Abstract Introduction Childhood and adolescent obesity is associated with insulin resistance, abnormal glucose metabolism, hypertension, dyslipidemia, inflammation, liver disease, and compromised vascular function. Objective We aimed to evaluate the effects of obesity on the auditory function and speech audiometry of children and adolescents. Methods Subjects with a body mass index (BMI) higher than +2 standard deviation (SD) were classified as obese, and subjects with normal BMI SD were classified as the control group. Blood samples were taken for glucose, insulin, and lipid profiles following an 8-hour fasting period, and a hepatobiliary ultrasound was performed. The homeostatic model assessment for insulin resistance (HOMA-IR) was calculated. The audiological evaluation included pure-tone audiometry (PTA), speech reception threshold (SRT), and speech discrimination score (SDS). Results The study included 100 children (50 girls) with obesity, with a mean age of 11.4 ± 2.9 years and 30 children with normal body weight, with a mean age of 11.9 ± 3.3 years. Of the children with obesity, 55% (n = 55) were found to have hyperlipidemia, 68% (n = 68) insulin resistance, and 21% (n = 21) hepatosteatosis. There were no statistically significant differences between children with obesity and the control group in terms of SDS or PTA, while SRT was found to be higher in children with obesity. There was no difference between obese children with or without hyperlipidemia, between obese children with or without insulin resistance, and between obese children with or without hepatosteatosis, according to hearing tests. Conclusion The result of the present study indicates that children with obesity are more prone to having auditory problems than the normal population. We recommend more frequent audiological evaluations, including speech audiometry, in children and adolescents with obesity problems

Effects of Obesity on the Auditory Function of Children and Adolescents.

Introduction Childhood and adolescent obesity is associated with insulin resistance, abnormal glucose metabolism, hypertension, dyslipidemia, inflammation, liver disease, and compromised vascular function. Objective We aimed to evaluate the effects of obesity on the auditory function and speech audiometry of children and adolescents. Methods Subjects with a body mass index (BMI) higher than +2 standard deviation (SD) were classified as obese, and subjects with normal BMI SD were classified as the control group. Blood samples were taken for glucose, insulin, and lipid profiles following an 8-hour fasting period, and a hepatobiliary ultrasound was performed. The homeostatic model assessment for insulin resistance (HOMA-IR) was calculated. The audiological evaluation included pure-tone audiometry (PTA), speech reception threshold (SRT), and speech discrimination score (SDS). Results The study included 100 children (50 girls) with obesity, with a mean age of 11.4 ± 2.9 years and 30 children with normal body weight, with a mean age of 11.9 ± 3.3 years. Of the children with obesity, 55% ( n = 55) were found to have hyperlipidemia, 68% ( n = 68) insulin resistance, and 21% ( n = 21) hepatosteatosis. There were no statistically significant differences between children with obesity and the control group in terms of SDS or PTA, while SRT was found to be higher in children with obesity. There was no difference between obese children with or without hyperlipidemia, between obese children with or without insulin resistance, and between obese children with or without hepatosteatosis, according to hearing tests. Conclusion The result of the present study indicates that children with obesity are more prone to having auditory problems than the normal population. We recommend more frequent audiological evaluations, including speech audiometry, in children and adolescents with obesity problems.

Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty.

INTRODUCTION AND PURPOSE: This study aims to investigate the effect of Gonadotropin-releasing hormone analogues (GnRHa) treatment on anterior pituitary hormones in female children with central precocious puberty (CPP). SUBJECTS AND METHOD: There were 62 female children who had been diagnosed with CPP and received GnRHa (Leuprolide acetate, 3.75 mg intramuscular/subcutaneous/28 days) included in the study. All subjects were clinically evaluated prior to treatment and every 3 months during treatment with serum LH, FSH, ACTH, TSH, PRL as pituitary hormones, and the end hormones such as plasma E2, cortisol, fT3, fT4 levels were measured. IGF-1 and IGFBP-3 levels were measured, and SDS was evaluated according to age and gender. RESULTS: Prolactin levels were higher during GnRHa treatment compared to pre-treatment values although the increase was statistically significant only at month 3. In addition, while 2 (3.2%) of the patients had hyperprolactinemia before treatment, 11 (17.7%) patients developed hyperprolactinemia at different time points during treatment. CONCLUSION: This study concluded that GnRHa treatment resulted in hyperprolactinemia and had no significant effect other pituitary hormones.

Adherence to growth hormone therapy: results of a multicenter study.

OBJECTIVE: To evaluate the adherence to growth hormone (GH) therapy and identify the influencing factors and outcomes in children. METHODS: A total of 217 GH-naïve patients in 6 pediatric endocrinology clinics were enrolled in the study. Structured questionnaires were filled out and patients were evaluated at the initiation and 3rd, 6th, and 12th months of therapy. Patients were categorized into 4 adherence segments based on percentage of doses omitted at each evaluation period, classified as excellent if 0%, good if 5%, fair if 5 to 10%, and poor if > 10%. RESULTS: There was a decrement in adherence to GH therapy during the study period (P = .006). Patients who showed excellent and good adherence to therapy had better growth velocity and growth velocity standard deviation scores (SDSs) (P = .014 and P = .015, respectively). A negative correlation between growth velocity SDS and number of missed injections was also observed (r = -.412; P = .007). A positive correlation between delta insulin-like growth factor-1 (IGF-1) SDS and growth velocity was demonstrated (r = .239; P = .042). IGF-1 levels were significantly higher in patients who showed excellent and good adherence to therapy (P = .01). Adherence was better in boys than in girls (P = .035), but adherence rates were not associated with age, cause of GH treatment, socioeconomic status, person who administered the injections, type of injection device, or GH product. CONCLUSION: Poor adherence to GH therapy was common in our group of patients and was one of the factors underlying suboptimal growth during therapy. Before considering other problems that can affect growth, clinicians should confirm good adherence to therapy.

Prevalence of hyperthyrotropinemia in obese children before and after weight loss.

BACKGROUND: Obesity is a worldwide epidemic. In recent years, increasing attention has been focused on thyroid function in obesity. OBJECTIVES: To establish the prevalence of elevated thyroid-stimulating hormone (TSH) levels in obese children and adolescents, and identify the relationship between TSH levels and other metabolic and hormonal variables before and after weight reduction. MATERIALS AND METHODS: We evaluated 150 obese subjects (aged 3-17 years) for anthropometric, biochemical, metabolic and hormonal variables. Measurements were taken at baseline and, in a subgroup of children with hyperthyrotropinemia, after a 6-month intervention program based on exercise, behavior therapy, and nutrition education. RESULTS: At baseline, 23 participants (15.3 %) had hyperthyrotropinemia, and 21 of these patients completed the weight reduction intervention. Among these 21 patients, 14 had substantial weight loss and a significant decrease in TSH and free T3 levels. CONCLUSION: We conclude that TSH and T3 levels are significantly increased in childhood obesity; in most cases, however, these increases cannot be elucidated by thyroid autoimmunity or iodine deficiency. If thyroid disorders are excluded beforehand, an elevated TSH with normal thyroid hormone levels in obese children seems rather a consequence than a cause of obesity since weight loss leads to a normalization of elevated TSH levels. In this context, thyroid hormone alterations in obesity suggest an adaptation process.

Diabetes mellitus with Laron syndrome: case report.

There are different opinions concerning changes in glucose metabolism in patients with Laron syndrome. In this paper we discuss the treatment results of our patient with Laron syndrome who developed diabetes during late adolescence. A 19-year-old boy with Laron syndrome was referred to our clinic for follow-up. He had been diagnosed with Laron syndrome (LS) at 4 years old and rIGF-1 therapy was initiated. After 4 months the treatment was discontinued. At the age of 17, rIGF-1 therapy was restarted. A height gain of 8.8 cm. was observed during the 2-year treatment period. He was admitted to our hospital at the age of 19 years following discontinuation of the therapy. At that time, his height was 142 cm, and weight for height was 136%. His blood glucose was 85 mg/dL (4.72 mmol/L), insulin was 26.39 pmol/L, and HbA1c was 5.4%. At the age of 20, when he has not been receiving IGF-1 therapy for 1 year, his weight for height was 143 cm. Laboratory evaluation revealed that fasting blood glucose was 176 mg/dL (9.77 mmol/L), fasting insulin was 29.86 pmol/L, and HbA1c was 7.5%. Primary insulin therapy was then initiated. His parents both had a diagnosis of type 2 diabetes. Insulin therapy was switched to oral antidiabetic (OAD) therapy at the end of the second year because of a normal C-peptide level of 0.8 nmol/L under insulin therapy. After 6 months of OAD, HbA1c was 5.7%. The treatment was then switched to IGF-1 therapy, but his blood glucose profile was impaired and OAD therapy was restarted. In conclusion, we observed that genetic susceptibility and abdominal obesity caused type 2 diabetes in this patient. We believe that oral antidiabetic agents and life-style changes may be the appropriate approach when diabetes is developed in LS patients.

A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant's weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m²/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient's electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY.

Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.

There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype does not contain a Y chromosome.

A pediatric Conn syndrome case.

Conn syndrome, which is rarely encountered in children, is characterized by increased aldosterone, low renin level, and arterial hypertension. Severe complications, such as impaired vascular smooth muscle function secondary to increased aldosterone, endothelial dysfunction, deterioration of left ventricular functions, acute effects on the cardiovascular system, and proteinuria, may be observed. We present a case of primary aldosteronism in a patient who has been followed up for approximately 2 years. A 15-year-old girl complained of headache lasting for approximately 1.5 years, which was diagnosed as severe hypertension. All of her systemic examinations were normal other than the hypertension. Primary aldosteronism was diagnosed on the basis of hypokalemia and alkalosis accompanied by plasma renin activity of 3.9 ng/mL/h and an aldosterone level of 1007 pg/mL (normal: 40-480). Left adrenalectomy was performed because a 10x12x12 mm adenoma was detected on abdominal magnetic resonance imaging. Although aldosterone levels returned to normal values after the surgery, antihypertensive treatment was continued because of the persistent hypertension. As the 24-h ambulatory blood pressure values of the patient were normal at 10 months after the operation, the treatment was stopped, and she was followed up for 15 months without any treatment. Since then, she has been normotensive.

Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia?

Hyponatremia and hyperpotassemia occurring in the first few weeks of life primarily indicate aldosterone deficiency due to salt-losing congenital adrenal hyperplasia (SL-CAH), while mineralocorticoid deficiency and insensitivity are the main causes of hyponatremia and hyperpotassemia in older infants. Some patients who present with vomiting and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as CAH, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA). This situation has been reported several times before. The cases described here represent the opposite situation: they presented with hyponatremia and hyperpotassemia, thus PHA was considered as aldosterone levels were very high, but subsequent investigation and genetic analysis led to the diagnosis of SL-CAH.

Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells. Major features include megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Cardiac malformations with conduction defects and/or dysrhythmias, have also been described in some patients. To our knowledge, only 13 TRMA patients with cardiac defects have been reported. Here, we describe the first case of TRMA syndrome with atrial standstill, probably caused by a 2 base-pair deletion in exon 4 (1147delGT) of the gene SLC19A2.

Hypothyroidism due to hepatic hemangioendothelioma: a case report.

Although hemangioendothelioma (HHE) is a commonly encountered hepatic tumor during infancy, HHE-related hypothyroidism is rare. We present a patient who developed HHE-related hypothyroidism during the neonatal period and showed marked improvement in hypothyroidism by regression of HHE. A 28-day-old boy with TSH level of 77 mIU/mL on neonatal screening and diagnosed as congenital hypothyroidism was started on L-thyroxine (L-T4) (11 µg/kg/day) therapy on the 21(th) day of life. On physical examination, the liver was palpable 5 cm below the right costal margin, and the thyroid gland was nonpalpable. Thyroid ultrasonography was normal. Although L-T4 dose was increased to 15 µg/kg/day, TSH was not suppressed and free T3 level remained low. HHE in both lobes of the liver was detected by abdominal ultrasonography and magnetic resonance imaging. Treatment was started with prednisolone 2 mg/kg/day and alpha-interferon 3 million U/m(2)/3 times per week. Thyroid dysfunction was thought to be due to type 3 iodothyronine deiodinase activity expressed by HHE. L-T4 therapy was changed to Bitiron® tablet, which includes both T4 and T3, and euthyroidism was attained within 1 month. Thyroid hormone requirement was reduced and treatment was discontinued after regression of the HHE. At the most recent visit, the patient was 21 months old and off treatment. His growth and neurological development were normal for age and he was euthyroid. HHE should be considered in cases with severe hypothyroidism resistant to high-dose thyroid hormone replacement. The treatment of HHE in combination with T4 and T3 therapy results in euthyroidism.