There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.

Objective: To investigate the frequency and effects of vitamin D deficiency in children with type 1 diabetes (T1D) in a region which is known to have a high rate of vitamin D deficiency among adolescents.
Met­hods: In this prospective cross-sectional study, 120 children and adolescents with T1D (55 girls and 65 boys) aged 3-20 years were evaluated. Serum 25-hydroxyvitamin D [25(OH)D], parathormone (PTH), and alkaline phosphatase (ALP) levels were measured. Hemoglobin A1c levels and daily insulin requirement were also evaluated. Classification of vitamin D status was made according to the American Academy of Pediatrics (AAP)/LWEPS’s recommendations. The patients were divided into 2 groups according to their vitamin D status and also according to the season of the year in which 25(OH)D sampling was done.
Re­sults: Serum 25(OH)D levels revealed vitamin D deficiency or insufficiency in 38% of the patients. Higher PTH levels were found in the patient group whose mean 25(OH)D level was <20 ng/mL as compared to the group whose mean 25(OH)D level was >20 ng/mL (p<0.05).
Only 11% of patients had secondary hyperparathyroidism. The 25(OH)D levels of patients whose serum samples were taken in summer and spring months were significantly different (p<0.05). There were no significant correlations between 25(OH)D level and daily insulin dose.
Conc­lu­si­on: Although we could not show a significant association between vitamin D deficiency and metabolic parameters, the frequency of vitamin D deficiency in T1D children is substantial. Vitamin D status should be assessed also in patients who do not have signs of rickets.

Objective: The aim of this study was to present weight and height percentiles for Turkish children aged 0-84 months residing in Kayseri, Turkey and to compare these findings with national references and international standards.
Methods: We used the data from the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study. This cross-sectional study conducted in Kayseri/Turkey between September 2009 and May 2010 included 2963 children (1491 girls, 1472 boys) aged 0-84 months. The centile curves were constructed using the LMS method.
Results: The 3rd, 5th, 10th, 15th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th percentiles and the LMS values for boys and girls were constructed. The 50th percentiles for weight and height of the children were compared with world health organization (WHO) standards and national data. Height and weight values in Kayseri children were lower than WHO standards and Istanbul references in the first year of life. At ages 1 to 4, weight values in both genders and height in boys were slightly higher than the national and international standards. Starting at age 4 years, the weight percentiles of Kayseri children were strikingly higher compared to the national and international standards and the boys were also taller.
Conclusions: This study provides cross-sectional data for weight and height percentiles of Turkish children aged 0-84 months residing in Kayseri. These data reflect the growth status of healthy Kayseri children and also indicate that these children may be more prone to obesity than the Istanbul children. Since the above-mentioned data illustrate the current growth status of this population, we believe that they will serve as a basis for monitoring future trends.

Objective: The aim of this study was to evaluate the clinical course of Hashimoto’s thyroiditis (HT) in children and adolescents and the effects of levothyroxine therapy on the clinical course and laboratory findings.
Methods: The clinical and laboratory data of 101 patients with HT at presentation and during a three-year follow-up period were retrospectively evaluated using patient records.
Results: The mean age of the patients at the time of diagnosis was 12.3±2.90 years and female/male ratio was 5.7/1. The complaint at the time of hospital presentation was goiter in 57.8% of the patients. At baseline, 36.7% of the patients were euthyroid, whereas 32.7% had subclinical hypothyroidism, 16.6 % of subjects were evaluated as hypothyroid. Twelve of the 28 patients who were initially euthyroid and not receiving therapy developed subclinical or overt hypothyroidism during the first 18 months of the follow-up period and were started on thyroid medication. At presentation, the mean anti-thyroglobulin (anti-Tg) and anti-thyroperoxidase antibody levels were 450±725 IU/mL and 392±428 IU/mL, respectively and at the end of the follow-up period, a significant decrease was observed in the anti-Tg levels of patients receiving levothyroxine from the beginning.
Conclusions: Thyroid functions of the patients with HT should be monitored periodically for hypothyroidism. Levothyroxine therapy may positively affect the clinical course of the disease and the antibody titers.

Objective: To investigate the effects of vitamin D deficiency on both insulin resistance and risk of metabolic syndrome in children.
Met­hods: The study group consisted of 301 children and adolescents with a mean age of 14.2±1.8 years. Serum 25-hydroxyvitamin D [25(OH)D] levels and insulin resistance indices were evaluated. According to serum 25(OH)D levels, the subjects were classified in 3 groups. Those with levels ?10 ng/mL were labeled as the vitamin D deficient group (group A), those with levels of 10-20 ng/mL as the vitamin D insufficient group (group B) and those with ?20 ng/mL as having normal vitamin D levels (group C). Metabolic syndrome was defined according to the International Diabetes Federation consensus. The participants with and without metabolic syndrome were compared in terms of 25(OH)D levels.
Re­sults: Mean 25(OH)D level of the total group was 18.2±9.3 (2.8-72.0) ng/mL. Distribution of individuals according to their vitamin D levels showed that 11.6% were in group A, 53.5% in group B, and 34.9% in group C. The proportions of boys and girls in these categories were 22.9% and 77.1% in group A, 36.6% and 63.4% in group B, 54.3% and 45.7% in group C, respectively. There were no significant differences in 25(OH)D levels in the individuals with and without impaired fasting glucose or impaired glucose tolerance. No relationship was observed between insulin resistance/sensitivity indices and vitamin D status (p>0.05). Metabolic syndrome was diagnosed in 12.3% (n=37) of the children. There was also no difference in mean 25(OH)D levels between individuals who had and those who did not have the metabolic syndrome.
Conc­lu­si­on: In our study, no correlations were found between insulin measurements during oral glucose tolerance test and vitamin D deficiency. Nonetheless, more extended studies including vitamin D supplementation and evaluating insulin sensitivity via clamp technique are needed to further elucidate this relationship.

Objective:
Preventing long-term diabetic complications requires good metabolic control, especially in type 1 diabetes mellitus (T1DM). We describe the metabolic control of T1DM and the factors affecting it among children and adolescents attending the Pediatric Clinic at King Abdul-Aziz University Hospital.
Methods:
A retrospective cross-sectional study was conducted on T1DM children and adolescents who had attended the Pediatric Clinic at King Abdul-Aziz University Hospital from 2006 to 2010. Both clinical and laboratory data were reviewed for the enrolled cases. The mean age of the patients was 12.5±4.1 years. Ages ranged from 1 to 18 years (n=484: male=213, female= 271). 38.6% of the patients were pre-pubertal and 61.4% - pubertal. The patients were categorized into 3 age groups as 1-6 years (10.3%), 7-12 years (33.5%) and 13-18 years (56.2%).
Results:
The overall mean HbA1c was 9.4±2.4% and the duration of patient follow-up was 26±17 months. 10.3% of the patients were on conventional insulin regimens and 89.7% - on intensive insulin therapy. 31.4% had satisfactory HbA1c according to the American Diabetes Association guidelines. The duration of T1DM was 2.9±1.4 years. The patients with diabetes duration ?2 years (45%) had a mean HbA1c of 8.7±1.8% and those with diabetes duration >2 years (55%) had a mean HbA1c value of 9.8±2.3% (p< 0.001).
Conclusions: The metabolic control of T1DM children in our cohort was less satisfactory than in other studies. We recommend the promotion of physical exercise and family educational programs to improve the metabolic control of T1DM pediatric patients in our population.

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set each day on the basis of within-day variability and between-day variation. In this case, the threshold on the day of the initial analysis was 8.2 mIU/L, and the measured TSH level in heel-prick blood was 8.3 mIU/L.

Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against acetylcholine receptors. MG is generally an isolated disorder but may occur concomitantly with other autoimmune diseases. We describe an eighteen-year-old girl with MG who was admitted to our clinic with secondary amenorrhea and diagnosed as autoimmune oophoritis. Since her myasthenic symptoms did not resolve with anticholinesterase therapy, thymectomy was performed. After thymectomy, her menses have been regular without any hormonal replacement therapy. To our knowledge, this is the first report on a patient with autoimmune ovarian insufficiency and MG in whom premature ovarian insufficiency resolved after thymectomy, without hormonal therapy.

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon condition caused by generalized and/or local tissue hypoperfusion. The skin lesions of ScFN tend to improve spontaneously. However, ScFN may also lead to complications which cause serious problems. The severity of the etiologic factors contributing to the development of the disease determines the severity of complications. Therefore, these patients should be closely monitored for complications, especially for hypercalcemia which may be life-threatening. The severity and duration of hypercalcemia are associated with the extensity of skin lesions.We present a newborn who developed ScFN as a result of systemic hypotension. The ScFN resolved after the first few weeks of life, but the patient developed mild hypercalcemia during the 4-month follow-up period. The infant was breast-fed during follow-up, and vitamin D prophylaxis was not initiated. The hypercalcemia resolved within four months without any complications. We would like to draw attention to the need to monitor serum calcium levels in these infants and to refrain from initiating vitamin D prophylaxis in the first months of life.

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.

Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus. Infections are the leading cause of DKA, but trauma, myocardial infarction, or surgery may also precipitate this condition. In patients with DKA, although cerebral edema is the most common cause of neurological symptoms, other possibilities such as meningitis or encephalitis should also be considered. Herein, we present the case of an 8-year-old girl with DKA and tuberculous meningitis.