Consideration of GH re-testing should be performed in all adolescents reaching the transition period (if not at start of puberty) who had been previously diagnosed with idiopathic, isolated GH deficiency. In the presence of multiple hormone deficiencies and/or clear-cut evidence of organic disease, persistence of severe GH deficiency is much more likely. Thus, GH deficiency may be “confirmed” by a low serum IGF-I concentration. During the transition period, the optimal time to reassess the integrity of the GH-IGF-I axis after prior GH treatment, the specific testing protocol to use, and the definition of GH deficiency all remain unknown. During the transition period, patients should have their GH dose lowered with (upward) adjustments made on the basis of age-and gender-adjusted serum IGF-I concentrations. GH treatment during the transition period has been shown in most, but not all, studies to be beneficial in preventing development of the features of the adult GH deficiency syndrome. It is important to remember that, during the transition period in teenagers with GH deficiency, there must be initiation of a careful plan for transfer of care to an intermist-endocrinologist with expertise in management of hypothalamic-pituitary disease in young adults.

Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, transcription factors and signaling systems that are involved in the process. Analyses of mutations are available as a diagnostic service for only a few of these genes although research laboratories may be able to provide a service. Both biochemical and genetic research have brought to light new disorders. Some genes for transcription factors involved in the development of the endocrine organs have also been identified and patients with defects in these processes have been found. This paper will review general aspects of adrenal disorders with emphasis on clinical and laboratory findings. As with all endocrine investigations there are few single measurements that provide a definitive answer to a diagnosis. Timing of samples in relation to age, gender and time of day needs to be considered.

Objective: To correlate the presence and duration of the symptoms with laboratory data in children with new onset diabetes mellitus (DM) and to determine the impact of gender, race, age, and type of diabetes on these relationships.
Methods: This was a single institution prospective study in which we asked the families of 112 children with new-onset DM a standard set of questions concerning the presence and duration of symptoms. We then reviewed selected laboratory data and explored the relationships between the symptoms, laboratory findings, gender, age, race, type of diabetes (T1DM or T2DM), and presence or absence of a history of diabetes in a close relative.
Results: Over 90% of patients had polyuria and polydipsia (mean duration 17 and 19 days), but only 50% of the families sought medical attention for this complaint. Children less than 5 years of age and African American children with T1DM were more dehydrated at presentation. More profound acidosis was seen in patients of younger age (<5 years), those with greater weight loss (9% or higher), and those with higher initial serum glucose (p<0.01). Mean hemoglobin A1c (HbA1c) was close to 11% for each subgroup and strongly correlated with the proportion of weight loss (p=0.0015), but not with the initial blood glucose, corrected serum sodium, or BUN levels.
Conclusions: Parents of children with new onset DM might not report polyuria or polydypsia as their main concern when they seek medical attention, so primary care physicians must be alert to the diagnosis of diabetes in any child with significant weight loss. Young children (<5 years old) and African American children with new onset T1DM are more dehydrated and young children (<5 years old) are more acidotic.

Objective: This study aimed (a) to investigate the relationship between the degree of obesity and serum adiponectin, tumor necrosis factor (TNF)-a, leptin, insulin levels and the lipid profile; (b) to clarify the relationship between insulin resistance/glucose tolerance and adipocytokine levels; and (c) to investigate the value of adipocytokine levels as a marker of metabolic syndrome (MS).
Methods: e studied 151 obese children and adolescents (86 boys and 65 girls; mean age was 12.3±2.4 years). We defined obesity as a body-mass index (BMI) z-score more than 2 SD above the mean for age and sex. The control group consisted of 100 children (48 boys, 52 girls, mean age 12.4±2.5 years). Fasting glucose, insulin levels and lipid profiles were measured in all cases and controls after a 12-hour fast. Adiponectin, TNF-a, and leptin levels were measured in the subjects who participated in the adipocytokine branch of the study. An oral glucose tolerance test (OGTT) was also performed in all obese patients. Obese patients were grouped into three subgroups according to their glucose tolerance and insulin sensitivity assessment, and also according to whether they were grouped as MS or not.
Results: Serum levels of total cholesterol, LDL and VLDL cholesterol, log triglyceride, insulin, leptin and TNF-a were higher, whereas HDL and square root adiponectin levels were lower in the obese group when compared with controls. Multiple regression analysis among BMI-z score, LDL, triglyceride, HOMA-IR, leptin and TNF-a as determinants of adiponectin revealed that BMI-z score was the only determinant for adiponectin (r: -0.45, p<0.0001). Adiponectin levels in hyperinsulinemic and impaired glucose tolerance groups (IGT) tended to be lower than in normoinsulinemic obese children, however, the difference was not significant. There was a weak negative correlation between adiponectin levels and increasing severity of insulin resistance (r=-0.23, p=0.005) in the groups of obese subjects. Mean serum adiponectin level in subjects with MS was lower than in subjects without MS (p=0.008).
Conclusions: Evaluation of serum adiponectin levels might contribute to an early intervention in obese children with MS.

Objective: Measurement of serum insulin-like growth factor-1 (IGF-1) and IGF binding protein-3 (IGFBP-3) levels has been recommended as a useful index for monitoring of growth hormone (GH) therapy in GH deficient children. In this study we aimed to evaluate IGF-1/IGFBP-3 molar ratio during GH treatment as an index of safety and efficacy.
Methods: Serum IGF-1 and IGFBP-3 levels and molar ratio of IGF-1/IGFBP-3 were evaluated in 50 GH deficienct children, during 3 years of GH therapy and these parameters were compared with the growth response.
Results: All patients completed the first year, 38 the second year and 26 the third year of therapy. Although 15 patients in the first year, 5 patients in the second year, and 5 patients in the third year had high IGF-1 SDS values, height increments were similar in the low IGF-1 group and in the normal or high IGF-1 level groups. Molar ratios were also not statistically different between the groups. Molar ratio of IGF-1/IGFBP-3 seemed to be more reliable in evaluating the efficacy than basal IGF-1 level.
Conclusions: Evaluation of the molar ratio of IGF-1/IGFBP-3 may be recommended as a tool to monitor GH treatment and it may be possible to individualize GH treatment accordingly.

Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance. We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.

Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick-Needles syndrome have been reported to date. Short stature is not a well-known component of the disorder. There is only one reported case of Melnick-Needles syndrome associated with growth hormone deficiency.
A six-year-old girl who presented to our clinic with short stature was diagnosed as Melnick-Needles syndrome based upon characteristic clinical and radiological findings. Two different stimulation tests demonstrated growth hormone deficiency. Presenting this second case of Melnick-Needles syndrome associated with growth hormone deficiency, we suggest that this association may be coincidental, but that it may also be a consequence of craniofacial abnormalities or an independent component of the disorder.

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo-pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo-pituitary insufficiency.