8 research outputs found
Serum IGF-1 and IGFBP-3 levels in healthy Turkish children between 0-6 years of age
WOS: 000270489900769
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism
Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH
The diagnostic treatment and follow up features of childhood thyroid malignancies a preliminary report
Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study
Aims To describe the baseline clinical and laboratory findings and
treatment modalities of 367 children and adolescents diagnosed with Type
2 diabetes in various paediatric endocrinology centres in Turkey.
Methods A standard questionnaire regarding clinical and laboratory
characteristics at onset was uploaded to an online national database
system. Data for 367 children (aged 6-18 years) newly diagnosed with
Type 2 diabetes at 37 different paediatric endocrinology centres were
analysed. Results After exclusion of the children with a BMI Z-score < 1
SD, those with genetic syndromes associated with Type 2 diabetes, and
those whose C-peptide and/or insulin levels were not available, 227
cases were included in the study. Mean age was 13.8 +/- 2.2 (range
6.5-17.8) years, with female preponderance (68\%). Family history of
Type 2 diabetes was positive in 86\% of the children. The mean BMI was
31.3 +/- 6.5 kg/m(2) (range 18.7-61) and BMI Z-score was 2.4 +/- 0.8
(range 1-5). More than half (57\%) of the children were identified by an
opportunistic diabetes screening due to existing risk markers without
typical symptoms of diabetes. Only 13\% (n = 29) were treated solely by
lifestyle modification, while 40.5\% (n = 92) were treated with
metformin, 13\% (n = 30) were treated with insulin, and 33.5\% (n = 76)
were treated with a combination of insulin and metformin initially. Mean
HbA(1C) levels of the insulin and combination of insulin and metformin
groups were 98 (11.1\%) and 102 mmol/mol (11.5\%), respectively, and
also were significantly higher than the lifestyle modification only and
metformin groups mean HbA(1C) levels (70(8.6\%) and 67 mmol/mol (8.3\%),
respectively). Conclusions An opportunistic screening of children who
are at high risk of Type 2 diabetes is essential, as our data showed
that > 50\% of the children were asymptomatic at diagnosis. The other
important result of our study was the high rate of exclusion from the
initial registration (38\%), suggesting that accurate diagnosis of Type
2 diabetes in youth is still problematic, even for paediatric
endocrinologists