In vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: a case report and review of the literature.

PURPOSE: To highlight the role of in vivo magnetic resonance spectroscopy (MRS) as a non-invasive tool that can clarify the etiology of sellar tumors by presenting the case of a boy with central precocious puberty (CPP) and to review the current literature. METHODS: A 4-year-old boy was admitted to our hospital due to repeated episodes of focal and gelastic seizures in the previous year. Clinical examination (testicular volume 4-5 ml bilaterally, penile length of 7.5 cm, and absence of axillary or pubic hair) and laboratory tests (FSH, LH, and testosterone) were indicative of CPP. The combination of gelastic seizures with CPP in a 4-year-old boy raised the suspicion of hypothalamic hamartoma (HH). Brain MRI revealed a lobular mass in the suprasellar-hypothalamic region. The differential diagnosis included glioma, HH, and craniopharyngioma. To further investigate the CNS mass, an in vivo brain MRS was performed. RESULTS: Οn conventional MRI, the mass demonstrated isointensity to gray matter on T1 weighted images but slight hyperintensity on T2-weighted images. It did not show restricted diffusion or contrast enhancement. On MRS, it showed reduced N-acetyl aspartate (NAA) and slightly elevated myoinositol (MI) compared with values in normal deep gray matter. The MRS spectrum, in combination with the conventional MRI findings, were consistent with the diagnosis of a HH. CONCLUSION: MRS is a state-of-the-art, non-invasive imaging technique that compares the chemical composition of normal tissue to that of abnormal regions by juxtaposing the frequency of measured metabolites. MRS, in combination with clinical evaluation and classic MRI, can provide identification of CNS masses, thus eliminating the need for an invasive biopsy.

An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature.

OBJECTIVES: Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity. CASE PRESENTATION: She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established. She presented again at the age of 11 with hyperpigmentation, weakness and signs of impending adrenal crisis. Diagnosis of autoimmune AI was established together with celiac disease and thyroid autoimmunity. Thus, she met criteria for APS, being the third pediatric case report of APS2 with this combination. CONCLUSIONS: This case is notable for the atypical age of onset, given that APS2 is rare in the pediatric population. Furthermore, it depicts the insidious course of Addison disease with symptoms fluctuating for years before diagnosis.

Hypertriglyceridemic Waist Phenotype and Its Association with Metabolic Syndrome Components, among Greek Children with Excess Body Weight.

The hypertriglyceridemic waist (HTGW) phenotype is characterized by abdominal obesity and elevated serum triglycerides. We aimed to assess the prevalence of the HTGW phenotype among children with overweight or obesity and its association with indices of insulin resistance (IR) and dyslipidemia. A total of 145 children with mean age of 10.2 years (SD = 2.31 years), 97.2% of whom with obesity, were analyzed. The HTGW phenotype was defined as WC > 90th Centers for Disease Control and Prevention (CDC) percentile and triglyceride levels of ≥100 mg/dL and ≥130 mg/dL for children 0 to 9 or >10 years of age, respectively. In total, 77.9% of the children had a waist circumference above the 90th percentile and 22.8% had elevated triglycerides. The prevalence of the HTGW phenotype in this sample was 19.3%. Patients with the HTGW phenotype had significantly lower levels of High-Density Lipoprotein (p < 0.001) and were insulin-resistant, as evident by an increased mean Triglycerides Glucose Index 8.64 (SD = 0.24) vs. 7.92 (SD = 0.41) for those without the HTGW phenotype (p < 0.001), and increased prevalence (54.5%) of Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) in ≥2.5 in patients with HTGW (p = 0.045). Children with the HTGW phenotype were more likely to have increased HOMA-IR [OR 7.9 95% CI (1.94, 32.1)]. The HTGW phenotype is a low-cost and easily available index that might help to identify children with increased cardiometabolic risk.

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.

OBJECTIVES: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. CASE PRESENTATION: In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes. CONCLUSION: Genetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.

Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH. Case presentation We present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features. Laboratory investigations revealed markedly low serum calcium, high phosphate, markedly elevated PTH levels and vitamin D insufficiency, while magnesium, albumin, ALP and TSH were normal. The clinical and laboratory findings were consistent with PHP1B. Molecular analysis revealed loss of methylation at the AB DMR of the GNAS locus, confirming the diagnosis. Yet no STX16 deletion was detected. Conclusions It is possible that delSTX16- patients carry a defect in an element that controls the methylation both at the GNAS-A/B DMR and at the GNAS-AS2. This rare case emphasizes the need of individualized molecular analysis in PHP1B patients in order to elucidate the possible molecular defect.

Τriglycerides-glucose (TyG) index is a sensitive marker of insulin resistance in Greek children and adolescents.

PURPOSE: To investigate the association between Triglyceride-glucose (TyG) index and the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) and Matsuda indices in Greek obese children and adolescents, in order to assess whether it could be used as a predictor of insulin resistance. METHODS: 367 children (47.7% boys) with mean age of 9.9 ± 2.3 years, who were investigated for obesity, were included. After overnight fasting, TyG and HOMA-IR indices were calculated in all participants. In a subpopulation of 72 children Matsuda index was also calculated. RESULTS: 48.8% and 36.1% of the participants had insulin resistance according to HOMA-IR and Matsuda index respectively. TyG was significantly and positively correlated with BMI, ΗΟΜΑ-IR, lipid profile and Matsuda index. ROC curve analysis for TyG showed that the optimal cutoff value for the prediction of insulin resistance (HOMA-IR) was 7.96 with sensitivity 65% and specificity 58%. The area under the curve (AUC) was 0.65 which significantly differs from 0.5 (p < 0.001). Similarly, the optimal cutoff value of TyG index for predicting insulin resistance as evidenced by Matsuda was 7.91 with sensitivity 85% and specificity 61%. The AUC was 0.75 (p < 0.001). The odds for insulin resistance (with HOMA-IR) was 2.54 times greater for subjects with TyG higher than 7.96, while the odds for insulin resistance (with Matsuda) was 8.56 times greater for subjects with TyG more than 7.91. CONCLUSIONS: TyG index shows a positive correlation with insulin resistance among children and adolescents, however further studies are needed to clarify its predictive ability.

Effects of continuous positive airway pressure (CPAP) treatment for obstructive sleep apnea in arterial stiffness: a meta-analysis.

Obstructive sleep apnea (OSA) is associated with increased arterial stiffness, a cumulative indicator of arterial health. Continuous positive airway pressure (CPAP) is the gold standard treatment for OSA. We conducted a meta-analysis of the available literature investigating the effect of CPAP on arterial stiffness in patients with OSA. Fifteen articles (n = 615 patients) assessing indices of arterial stiffness were identified. Five different meta-analyses were performed assessing: a) all indices of arterial stiffness, b) augmentation index (AIx), c) all pulse wave velocities (PWV), d) brachial-ankle PWV and e) carotid-femoral PWV. Pooled standardized mean differences (SMDs) and weighted mean differences (WMDs) were appropriately calculated through fixed or random effects models after assessing between-study heterogeneity. A significant improvement of all indices of arterial stiffness was observed after CPAP treatment (SMD = -0.74; 95%CI: -1.08 to -0.41). AIx and PWVs were also significantly improved (WMD = -4.86; 95%CI: -7.31 to -2.41 and WMD = -0.87; 95%CI: -0.98 to -0.77, respectively), as well as brachial-ankle PWV and carotid-femoral PWV (WMD = -0.86; 95%CI: -0.97 to -0.75 and WMD = -1.21; 95%CI:-1.92 to -0.50, respectively). Neither the proportion of compliant patients nor the duration of CPAP use altered the effect of arterial stiffness reduction after CPAP treatment. In conclusion, our meta-analyses showed significant improvements in all indices of arterial stiffness after CPAP treatment in patients with OSA. As clinical use of arterial stiffness is growing in popularity, the efficacy of this useful tool in assessing cardiovascular risk reduction among patients with OSA treated with CPAP needs to be further explored.