When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required, and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency (GHD). Because Insulin-like Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (IGFD). Although IGFD can develop at any level of the GH-releasing hormone (GHRH)-GH-IGF axis, a differentiation should be made between GHD (absent to low GH in circulation) and IGFD (normal to high GH in circulation). The main focus of this review is on the GH gene, the various gene alterations and their possible impact on the pituitary gland. However, although transcription factors regulating the pituitary gland development may cause multiple pituitary hormone deficiency, they may present initially as GHD.

Objective: In adults, it was shown that obesity and insulin resistance affect low-density lipoprotein (LDL) particle size and small dense (sd) LDL is associated with cardiovascular diseases. In this study, we investigated the effect of obesity and insulin resistance on LDL particle size.
Methods: Twenty-six obese children (13 girls, 13 boys) with a median age of 10.5 years and 27 healthy control subjects (17 girls, 10 boys) with a median age of 11.5 were enrolled in the study.
Results: The number of patients with insulin resistance in the obese group was 15 out of 26. In the control group, there was no subject with insulin resistance. Serum triglyceride and very LDL (VLDL) levels were higher and serum high-density lipoprotein levels (HDL) were lower in the obese patients than in the controls. There was no statistical difference in the LDL particle size between the two groups (medians: 26.6 vs. 26.7 nm (p=0.575)). The size of LDL particle was not correlated with body mass index (BMI) standard deviation score (SDS), homeostasis model assessment of insulin resistance (HOMA-IR), or serum lipids.
Conclusion: Measurement of LDL particle size as a routine procedure is not necessary in childhood obesity.

Objective: The associations between the degree of obesity and cardiovascular disease (CVD) risks and the impact of gender differences with regard to these risk factors are not well understood. The aim of our study was to examine the gender-specific differences in CVD risk factors in inner-city minority youths.
Methods: A total of 269 adolescents (109 males and 160 females) were included in this retrospective study. Data on multiple metabolic variables were collected. Evaluation of abnormalities in these parameters was based on standard criteria. Pearson correlations were calculated to examine the relationship between body mass index (BMI) z-score and obesity-related parameters. Chi-square and Fisher’s tests were used to compare the frequencies of single or multiple cardiovascular risks in the two gender groups.
Results: In the male group, BMI z-scores showed significant positive correlations with insulin resistance and diastolic blood pressure. In the female group, BMI z-scores showed significant positive correlations with insulin resistance and systolic blood pressure. In both genders, the prevalence of CVD risks was high, but a similar risk pattern was established in both sexes, with dyslipidemia being the highest, hypertension the second, and impaired glucose tolerance (IGT) being the least outstanding. The most important finding in this study was that the male group had a significantly higher prevalence of systolic hypertension.
Conclusion: Male inner-city minority adolescents show a high prevalence of CVD risks associated with obesity. Appropriate risk stratification is critical to developing and implementing both therapeutic and preventive interventions.

Objective: To retrospectively evaluate the effect of type 1 diabetes on growth.
Methods: Patients with Type 1 diabetes mellitus (T1DM) followed for at least one year after diagnosis, and without coexisting disorder that could affect growth, were included in this retrospective analysis. Height and body mass index (BMI) values were recorded. According to the data obtained at the end of each year of disease, the patients were divided into two groups: Group 1 (patients whose height standard deviation score (SDS) did not change or showed improvement) and Group 2 (patients whose height SDS showed a decline). The two groups were compared with respect to clinical and laboratory variables.
Results: Among the 248 patients followed, 101 (M/F: 55/46) fulfilled the inclusion criteria. Overall, the mean height SDS of the patients did not change significantly during the follow-up period. BMI SDS showed no change during the course of the disease, except for a significant rise observed at the end of the first year compared to the value at diagnosis. Height SDS of the patients in Group 1 was higher compared to those in Group 2 from the 2nd year of disease onwards (2nd year, p=0.03; 3rd year, p=0.02; 4th year, p=0.01; 5th year, p=0.03). The ratio of patients presenting with diabetic ketoacidosis at onset was significantly higher in Group 1 at the 4th year of diagnosis (p=0.03). Additionally, the mean HbA1c level showed a modest negative correlation with ? height SDS at the 3rd year of diagnosis (r=-0.3, p=0.03).
Conclusions: No significant deteriorative effect of T1DM on auxological parameters was observed at short term. Some clinical and laboratory variables related with metabolic control were found to correlate with growth.

Objective: To assess the role of fine-needle aspiration biopsy (FNAB) in the management of pediatric thyroid nodules.
Methods: Results of 30 FNABs performed in our clinic were retrospectively reviewed. Clinical and surgical follow-up data were obtained from the patient files, and clinical correlation and accuracy of FNAB were evaluated.
Results: The results of 30 FNABs were reported as benign in 24 (80%), insufficient in 4 (13.3%) patients, malignant in 1 (3.3%), and suspicious in 1 (3.3%) patient. One patient with a FNAB result of malignancy underwent surgery and the histological diagnosis was papillary carcinoma. FNAB was repeated in two of the insufficient biopsies, and reported as benign; in one of these patients, the thyroid nodule disappeared and in one, remained stable at clinical follow-up. Four of the patients with benign FNAB results underwent surgery at clinical follow-up because of an increase in the size of the nodules and one patient was found to have papillary carcinoma. The remaining patients were clinically followed. In this study, the malignancy prevalence was 6.6% in patients with thyroid nodules. There was only one false-negative case.
Conclusion: FNAB is a reliable diagnostic tool in the management of pediatric thyroid nodules.

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. It has been recently demonstrated that some families with features of PDS do not have the inner ear malformations and mutations in the PDS gene. This condition has been named as “pseudo-Pendred syndrome” (pseudo-PDS), and has been hypothesized to be of autoimmune origin. Here we report four siblings who have goiter, severe hypothyroidism, a positive perchlorate discharge test and sensorineural deafness, but not the inner ear abnormality which is diagnostic for PDS. We suggest that thyroid peroxidase (TPO) gene should be analyzed in pseudo-PDS patients with congenital goitrous hypothyroidism and deafness.

Pseudohypoparathyroidism (PHP) refers to end-organ resistance thatprimarily impairs the renal actions of parathyroid hormone (PTH). The patients with PHP type Ia (PHP-Ia), one of the 4 types of PHP, show resistance to other peptide hormones as well as clinical features of Albright hereditary osteodystrophy (AHO), a constellation of short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Here we report clinical follow-up for a long-term period in a PHP-Ia case who had a missense mutation leading to the substitution of proline by serine (Prol115Ser) in exon 5 which has been reported previously in only two patients. An 11-year-old boy applied for hand spasm to our hospital. On physical examination, he had short stature, round-shaped face and brachydactly. Laboratory evaluation revealed PTH and TSH resistance. Molecular genetic analysis of the GNAS gene revealed a P115S substitution. The patient was followed up for 13 years. Normocalcaemia was achieved with reduced doses of calcitriol (0.25 µg/day) and calcium supplements (40 mg/kg/day). Daily requirement for levothyroxine supplementation was still high (2.3 µg/kg) to achieve euthyroidism. His pubertal development was Tanner stage V and he has no gonadotropin resistance. To our knowledge, this is the first report concerning long-term follow-up of this rare mutation. We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease.

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus.

The treatment of epilepsy during pregnancy is a worldwide problem. Drugs need to be used to control seizures in the mothers. In utero, exposure to valproic acid (VPA) and phenytoin (PH) may cause congenital malformations and also withdrawal symptoms such as irritability, jitteriness and symptoms of hypoglycemia. We present here a newborn with episodic hypoglycemia due to in utero exposure to VPA and PH. The mother was diagnosed as having complex partial epilepsy and was treated with PH (200 mg/day) and VPA (600 mg/day). The offspring developed jitteriness on the second day of life. The infant was hypoglycemic (32 mg/dl). These findings were accepted as withdrawal symptoms, since serum levels of VPA and PH were 37.8 µg/ml (50-100 µg/ml) and 6.37 µg/dl (10-20 µg/ml), respectively. Measurement of blood glucose is important and should be carefully monitored in infants exposed to antiepileptics in utero.