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Korkmaz Ö, Gökşen D, Özen S, Darcan Ş. Is anti-Mullerian hormone an indicator of potential polycystic ovary syndrome in prepubertal girls with simple obesity? Turk J Pediatr 2016; 58: 406-412. The aim of this anti-Mullerian hormone (AMH) levels in prepubertal obese girls are a predictive marker for polycystic ovary syndrome (PCOS) and to investigate the relationship between insulin resistance and AMH. Sixty girls with premature pubarche or obesity and 20 healthy controls between the ages of 6-9 were enrolled. Of the patients, 22 (36.7%) were in the obese group (Group 1), 28 (46.7%) in the early pubarche group (Group 2) and 10 (16.6%) in the early pubarche + obese group (Group 3). Comparison of the subjects' fasting insulin and homeostatic model assessment insulin resistance (HOMA-IR) demonstrated significantly higher values for group 1 compared to group 2 (p=0.001 and 0.001) and, likewise, significantly higher values for group 3 compared to group 2. There was no significant differences between all groups for AMH levels. AMH levels were not significantly different in the obese girls compared to the other groups. There was also no relationship between AMH and insulin resistance in any of the groups. Further studies, however, are needed due the limited number of subjects in this study and in the absence of adequate relevant data. [ABSTRACT FROM AUTHOR]

Ulusoy E, Edeer-Karaca N, Özen S, Ertan Y, Gökşen D, Aksu G, Darcan Ş, Kütükçüler N. An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia. Turk J Pediatr 2016; 58: 442-445. Ataxia-telangiectasia (A-T) is a rare autosomal recessive, multisystem, neurodegenerative disorder, characterized by oculocutaneous telangiectasias, variable immunodeficiency and progressive neurological impairment. Definitive diagnosis is made by revealing a disease causing mutation on ATM gene. Missense mutations and polymorphisms of ATM gene can play a role in the development of thyroid papillary carcinoma. A 13-year-old Turkish girl was diagnosed with ataxia telengiectasia at the age of 8 years. When she was 12 years old, multi-nodular goiter was detected by physical examination and ultrasonography. She underwent thyroidectomy and histopathologic investigation revealed a papillary carcinoma with follicular variant. The patient received post-operative radioiodine therapy as well as L-thyroxine treatment because she had residual lesions. Up until now, she is the first Turkish child wit A-T and thyroid carcinoma described in the literature. [ABSTRACT FROM AUTHOR]

Different therapy models have been tried in order to decrease bone resorption in osteogenesis imperfecta. Bisphosphonates are a group of drugs that mainly suppress osteoclast-mediated bone resorption, thus reducing bone turnover. We assessed the effects of low-dose bisphosphonate treatment in children with osteogenesis imperfecta. Sixteen osteogenesis imperfecta patients (12 female, 4 male) with severe deformities were treated with cyclic (3-4 mg/kg/year) intravenous infusions of bisphosphonate (Aredia-Novartis) therapy for a period ranging from 0.6 to 4.7 years (mean 2.50 +/- 1.09 years). Bone mineral density increased from 0.304 +/- 0.146 g/cm2 to 0.362 +/- 0.142 g/cm2 in the first year and to 0.421 +/- 0.146 g/cm2 in the second year. A clinical response was shown with a reduction in fracture rate and improvement in mobilization scores. Fracture rates decreased from a median of 4/year (0-30/year) before treatment to 0/year (0-5/year) during treatment. Ambulation improved in 10 children and remained unchanged in three. Two of the children were fully functional before therapy and one was below two years of age. No adverse effects were seen with pamidronate infusions of 7-10 mg/kg/year (monthly) or with 4 cycles/year 3-4 mg/kg/year. Low-dose cyclical pamidronate infusions markedly increased bone density and decreased bone fracture rate and should be considered as a part of a multi-disciplinary treatment.

The aims of this study were to investigate the effect of exogenous obesity on respiratory function tests, to define the relationship between the severity of obesity and respiratory function test parameters, and to detect the incidence of airway hyperresponsiveness and exercise-induced bronchospasm in an obese study group. This cross-sectional controlled study was done with 38 exogenous obese patients, aged 9 to 15 years, and 30 healthy children. Basal respiratory function test parameters were measured with spirometry. To display airway hyperresponsiveness, 4.5% hypertonic saline provocation test was used; exercise-induced bronchospasm incidence was defined with bicycle ergometry. Basal respiratory function test parameters were lower in the study group as compared with the control group. Exercise test was positive in 31.6% of the obese group and in 3.3% of the control group (P = 0.003). The provocation test with hypertonic saline test was positive in 18.4% of the obese group. There were strong negative correlations between body mass index (BMI), relative weight, skin fold thickness, waist/hip circumference ratio and basal forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and peak expiratory flow (PEF) values. The diagnosis and management of exercise-induced bronchospasm may improve exercise performance and physical activity, assist with weight loss, and break the vicious circle.

Obesity is a prevalent pathological and nutritional disease relating to clinical and sub-clinical disorders. Furthermore, its complications exert a major impact on cardiovascular risk. Myocardial performance index (MPI) has been described as noninvasive Doppler measures of left ventricular (LV) function. The purpose of this study was to assess MPI using transthoracic Doppler echocardiography in normotensive obese and hypertensive obese pediatric patients and in a control group, and to investigate the relationship between MPI and LV mass, and LV systolic and diastolic functions. The study group consisted of 25 healthy cases (M/F: 13/12) as a control group (Group I), 25 normotensive-obese patients (M/F: 13/12) (Group II) and 25 hypertensive-obese patients (M/F: 14/11) (Group III). The mean ages were 12.1+/-1.8, 11.9+/-1.5 and 12.4+/-1.4 years, respectively. Cholesterol levels and body mass index (BMI) were higher in the hypertensive-obese group. The MPI values were 0.37+/-0.04, 0.43+/-0.08 and 0.51+/-0.11 in the three groups, respectively. MPI measurements, LV mass fractional shortening (FS), ejection fraction (EF) and mitral E/A ratio were found significantly different, especially in the hypertensive-obese group. These findings may be important to determine the relationship between obesity and cardiovascular risk factors in pediatric ages. MPI may be useful in determining the relationship between them.

Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, the first child of nonconsanguineous parents, who was referred for the investigation of failure to thrive, vomiting, constipation, fever, abdominal distention and hypotonia. Physical examination revealed weight under 3rd percentile, height 3rd-10th percentile, decreased subcutaneous fat, and distention of the abdomen. In neurological examination, hypotonia, motor-mental retardation, and active deep tendon reflexes were found. The biochemical values at the time of admission revealed primary hyperparathyroidism. Since hypercalcemia did not respond to calcitonin therapy and due to the mortality of hypercalcemia, parathyroidectomy was performed. Because hyperparathyroidism and hypercalcemia continued, angiography was done which revealed increased parathyroid hormone levels in the periphery of the innominate vein. Exploratory surgery followed, but hyperparathyroidism and hypercalcemia persisted after all of these procedures. Calcium-sensing receptor mutations and supernumerary gland were considered. Because hypercalcemia persisted, pamidronate therapy was initiated on a monthly basis.