The normal limits of the liver, spleen, and kidneys are important parameters during a sonographic examination. This study revealed that organ dimensions showed the best correlation with body weight. To our knowledge, in clinical practice there are no pediatric organ dimension percentile graphs for interpretation of sonographic examinations. We hope this study contributes to daily practice in radiology clinics.

CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.

Objective:Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods:Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results:The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion:This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

HADH mutations are common in consanguineous pedigrees with diazoxide-responsive hyperinsulinaemichypoglycemia; therefore, genetic testing is recommended, even in the absence of abnormal fatty acid oxidation.

The aim of this study was to investigate the incidence of congenital hypothyroidism (CH) in the West Black Sea Area, a mild-to-moderate iodine deficient area in Turkey. Neonatal screening for CH was performed using blood specimens collected onto filter paper. Thyrotropin [thyroid-stimulating hormone (TSH)] was measured by radioimmunoassay, and a value >20 microU/ml was considered as cut-off point for re-examining. Venous serum was obtained to measure TSH, thyroxin (T4), free T4 (FT4) and thyroglobulin (TG). To determine the iodine status of the study area, median urinary iodine was measured in 212 randomly selected neonates and their mothers. A total of 18606 neonates were screened from three cities (Bolu, Düzce, and Zonguldak) between 2000 and 2002. With a cut-off point of TSH value >20 microU/ml, the recall rate was found 1.6%. Eight cases of CH were diagnosed (incidence 1/2326). There were three cases of transient hypothyroidism, with an incidence of 1/6202. Twenty-six percent of the TSH values was greater than 5 microU/ml. Median urinary iodine concentrations in neonates and their mothers were 85 microg/l and 40 microg/l, respectively. The incidences of CH, transient hypothyroidism and the recall rate were higher in our study area than many countries in Europe. The study area has been affected by mild-to-moderate iodine deficiency. Neonatal screening for CH should be introduced in Turkey without delay. A national comprehensive infantile hypothyroidism and iodine prophylaxis policies should be developed.

The overall prevalence of overweight and obesity was 10.3% and 6.1% respectively. The overall prevalence of obesity in boys and girls was 7.0% and 5.4%, respectively, and the difference was significant (chi(2) = 8, p = 0.004). The prevalence of obesity in urban and rural areas was 7.7% and 3.9%, respectively, and the difference was significant (chi(2) = 40, p < 0.001). The prevalence of overweight boys and girls in urban areas was 11.6% and 13.2%, respectively, but the difference was not significant (chi(2) = 2, p > 0.05). However, the prevalence of overweight boys and girls in rural areas was 4.8% and 9.4%, respectively, and the difference was significant (chi(2) = 25, p < 0.001). Although the prevalence of obesity differed significantly between boys and girls in urban children (chi(2) = 13, p < 0.001), no significant difference was detected in the prevalence between boys and girls from rural areas (chi(2) = 0.4, p > 0.5). The prevalence of obesity was significantly higher in private schools than in public schools (chi(2) = 48, p < 0.0001). The prevalence of overweight and obese Turkish children aged 6-17 years is considerably lower than in most European countries. The children in urban settings and higher socioeconomic groups had a higher prevalence of overweight and obesity. The Westernisation of the behaviour patterns of children and living in an urban setting in a developing country are risk factors for obesity.

Aim: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. Methods: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. Results: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA Leu (UUR) A to G (nucleotide 3243) mutation.Conclusion: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.