A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. Here, we report a boy with congenital central hypothyroidism caused by a novel variant in the IGSF1 gene. In our patient, early testicular enlargement but delayed testosterone rise with central hypothyroidism and hypoprolactinemia were the most important clues for diagnosis. In genetic analysis, we identified a novel, hemizygous nonsense c.3763 C>T (G1n1255Ter) variant in IGSF1 gene. To our knowledge, this is the first reported case of IGSF1 deficiency from Turkey.

Is there a relationship between the dietary inflammatory index and metabolic syndrome among adolescents?

Background Dietary patterns have a crucial role in modulating chronic inflammation. This study aimed to determine the relationship between the Dietary Inflammatory Index (DII) and inflammation markers and metabolic syndrome components in adolescents (n = 343). Methods Fasting glucose, fasting insulin and lipid profile were analyzed and blood pressures were measured. Analysis of inflammation markers such as sedimentation, leukocyte, C-reactive protein (CRP), tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6) was also performed. The DII scores were calculated based on the adolescent's 3-day food consumption records. Results The dietary inflammatory score varied between 1.04 and 5.11 (3.6 ± 0.82). There was no significant difference in leukocyte and CRP levels between quartiles (p > 0.05). Those in the fourth quartile were observed to have higher levels of TNF-α and IL-6 compared to the others (p < 0.05). In the multiple regression analysis, a positive correlation existed only between IL-6 and DII, independent of other inflammatory markers (ß = 0.272; p < 0.05). The DII was associated with glucose intolerance (odds ratio [OR] for DII quartile 4 compared to 1 = 3.5, 95% confidence interval [CI] = 1.2-10.4) and dyslipidemia (OR for DII quartile 4 compared to 1 = 5.3, 95% CI = 1.7-16.8). Conclusions These data suggest that a higher DII score was significantly associated with an increased risk of metabolic syndrome and some metabolic syndrome components in adolescents. Hence, DII can be used to determine the inflammatory potential of a diet and a healthy diet with anti-inflammatory properties that may be conducive to the prevention of metabolic disorders.

Normal sweat chloride test does not rule out cystic fibrosis.

Basaran AE, Karatas-Torun N, Maslak IC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.