Publications by authors named "Nimet Karatas-Torun"

Loss-of-function mutations in the 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 gene.

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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.

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Article Synopsis
  • * The patient's sweat chloride tests returned within the normal range, indicating that normal levels do not completely rule out the possibility of cystic fibrosis.
  • * Ultimately, genetic testing revealed two mutations associated with cystic fibrosis, highlighting the importance of mutation analysis in diagnosing the condition even with normal sweat test results.
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