Publications by authors named "Ayrancı I"

Article Synopsis
  • * Three cases of WS were examined, with diagnoses confirmed through genetic testing, revealing both known and novel mutations in the WFS1 gene.
  • * Early diagnosis of WS is crucial as it helps identify associated health issues, potentially reducing complications and improving patient outcomes.
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Introduction: Polycystic ovary syndrome (PCOS) is a common syndrome often observed during adolescence, characterized by ovulatory dysfunction and hyperandrogenism. It is determined that, when female fetuses are exposed to high levels of androgens, it increases their likelihood of developing PCOS in later ages. The 2D:4D digit ratio, which measures the length of the index finger compared to the ring finger, is a precise anatomical indicator of the degree of prenatal androgen exposure.

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Article Synopsis
  • Obese children face a higher risk of arrhythmias and sudden death, even if they don’t have heart dysfunction, due to factors like insulin resistance and neurohumoral changes.
  • A study involving 50 obese children assessed various heart rhythm parameters using 12-lead ECGs, focusing on factors like Tp-e time and QT intervals to determine risks associated with ventricular arrhythmia.
  • Results indicated that obese children, especially those with insulin resistance, showed significant changes in heart rhythm parameters, suggesting the need for regular monitoring of their heart health through ECGs and Holter monitoring to prevent potential arrhythmias.
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Objective: Multisystem inflammatory syndrome in children (MIS-C), associated with Coronavirus disease-2019, is defined as the presence of documented fever, inflammation, and at least two signs of multisystem involvement and lack of an alternative microbial diagnosis in children who have recent or current Severe acute respiratory syndrome-Coronavirus-2 infection or exposure. In this study, we evaluated thyroid function tests in pediatric cases with MIS-C in order to understand how the hypothalamus-pituitary-thyroid axis was affected and to examine the relationship between disease severity and thyroid function.

Methods: This case-control study was conducted between January 2021 and September 2021.

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Purpose: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2, which is characterized by asymptomatic fasting hyperglycemia and does not require insulin treatment. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM) that appears in the first 6-9 months of life and necessitates lifelong insulin treatment. We aimed to present the genotypic and phenotypic features of a 13-year-old patient diagnosed with DM at the age of 3 years due to a homozygous variant in the GCK gene.

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17β-hydroxysteroid dehydrogenase type 3 deficiency is a rare cause of 46 XY disorders of sexual development. Mutations in the HSD17B3 gene result in reduced activity of the 17β-HSD3 enzyme, decreasing the conversion of androstenedione to testosterone. In this report, two cases, admitted with different clinical findings in the neonatal and adolescent periods and were decided to be raised in different genders are presented.

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