Background/Aim: To estimate overweight and obesity prevalence trends in Slovenian adolescents entering secondary schools in the years 2004, 2009 and 2014 and differences in the prevalence between ...different types of secondary schools. Methods: Data from 17,538 adolescents entering secondary schools (mean age ± standard deviation 15.4 ± 0.5 years) collected during obligatory medical examination in years 2004, 2009 and 2014 was analyzed. Overweight and obesity were defined using International Obesity Task Force criteria. Results: In 2004-2009 overweight and obesity prevalence increased, especially in males and stabilized thereafter (2009-2014) in both genders. It was significantly higher (p < 0.0001) in those attending secondary vocational and technical/professional versus grammar schools (2009; 28.7 vs. 16.8% overweight females and 31.6 vs. 22.3% overweight males; 2014: 29.7 vs. 17.9% overweight females and 33.6 vs. 20.4% overweight males). Conclusions: Overweight and obesity prevalence in Slovenian adolescents entering secondary schools stabilized recently. Adolescents attending secondary vocational and technical/professional schools are at an increased risk of overweight and obesity.
To analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal ...hyperplasia (CAH) patients from Slovakia and Slovenia.
Data were obtained from 104 patients with CAH registered in Slovak and Slovenian databases. Low-resolution genotyping was performed to detect the most common point mutations. To detect deletions, conversions, point mutations, or other sequence changes in the
gene, high-resolution genotyping was performed. Genotypes were classified according to residual 21-hydroxylase activity (null, A, B, C).
64% of the individuals had the salt-wasting form (SW-CAH), 15% the simple virilizing form (SV-CAH), and 21% the non-classic (NC-CAH).
gene deletion/conversion and c.293-13A/C>G pathogenic variant accounted together for 55.5% of the affected alleles. In SV-CAH p.Ile172Asn was the most common pathogenic variant (28.13%), while in NC-CAH p.Val282Leu (33.33%),
gene deletion/conversion (21.43%), c.293-13A/C>G (14.29%), Pro30Leu (11.90%). The frequency of alleles with multiple pathogenic variants was higher in Slovenian patients (15.83% of all alleles). Severe genotypes (0 and A) correlated well with the expected phenotype (SW in 94.74% and 97.3%), while less severe genotypes (B and C) correlated weaklier (SV in 50% and NC in 70.8%). The median age of SW-CAH patients at the time of diagnosis was 6 days in Slovakia vs. 28.5 days in Slovenia (p=0.01). Most of the Slovak patients in the cohort were detected by NBS. (24 out of 29). TARTs were identified in 7 out of 24 male patients, of whom all (100%) had SW-CAH and all had poor hormonal control. The median age at the diagnosis of TARTs was 13 years.
The study confirmed the importance of neonatal screening, especially in the speed of diagnosis of severe forms of CAH. The prediction of the 21-OH deficiency phenotype was reasonably good in the case of severe pathogenic variants, but less reliable in the case of milder pathogenic variants, which is consistent compared to data from other populations. Screening for TARTs should be realized in all male patients with CAH, since there is possible remission when identified early.
Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously ...described. We present the clinical and genetic characteristics of three family members with a biallelic novel pathogenic variant in the
gene. The patients were followed until the ages of 21.6, 20.2, and 4.2 years. PAI was diagnosed in the eldest two brothers after an Addisonian crisis and the third was diagnosed at the age of 4.5 months in the asymptomatic stage due to the genetic screening of family members. Whole exome sequencing with a targeted interpretation of variants in genes related to PAI was performed in all the patients. The urinary steroid metabolome was determined by gas chromatography-mass spectrometry in the asymptomatic patient. The three patients, who were homozygous for c.1575dup in the
gene, developed isolated glucocorticoid deficiency. The urinary steroid metabolome showed normal excretion of cortisol metabolites. The adolescent patients had slow pubertal progression with low-normal testicular volume, while testicular endocrine function was normal. Bone mineral density was in the range for osteopenia in both grown-up siblings. Echocardiography revealed no structural or functional heart abnormalities. This article is among the first with a comprehensive and chronologically-detailed description of patients with NNT deficiency.
. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (
) gene variants. So far, ...only around 40 families with FNAH have been reported. Patients with activating
variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves' disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences.
. We presented a young adult male patient with a novel heterozygous
disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy.
. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion.
ECTOPIC THYROID IN CHILDHOOD Nina Cerkvenik; Klemen Dovč; Irena Hočevar Boltežar ...
Slovenska pediatrija,
04/2020, Letnik:
27, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Ectopic thyroid gland is a rare clinical entity characterized by thyroid tissue in a location other than its normal anatom- ical position. It is a developmental abnormality. The most frequent ...location of ectopic thyroid is at the base of the tongue, although it can be found elsewhere along the path of thyroid embryogenic descent and even at distant body locations. Single ectopy is the most common, but dual and triple ectopy has also been described. Most people with ectopic thyroid are asymptomatic. If symptoms occur, they are related to the location and size of the ectopic tissue as well as its endocrine dysfunction. The most important diagnostic procedure for detection of ectopic thyroid tissue is scintigraphy. For patients with- out symptoms, no treatment is necessary, but they need regular follow-up and action if symptoms appear. Patho- logical changes can occur in the ectopic as in the ortho- topic gland. We present a rare case of dual ectopy with subclinical hypo- thyroidism in a two-and-a-half-year-old girl and a review of cases of ectopic thyroid diagnosed in a 5-year period at the University Children’s Hospital Ljubljana.
Iodine intake of Slovenian adolescents Stimec, M; Mis, N.F; Smole, K ...
Annals of nutrition and metabolism,
01/2007, Letnik:
51, Številka:
5
Journal Article
Recenzirano
Background: Slovenia is classified as being iodine-deficient. We recently found that Slovenian adolescents are iodine-sufficient (median urinary iodine concentration of the population 140 µg/l) and ...the prevalence of goiter is low (0.9%). The objective of this study was to evaluate iodine intake, the prevalence of marginal, low and excessive intake (<50, 50–100 and ≧300 µg/day), as well as the main sources of iodine in the diet of Slovenian adolescents. Methods: A cross-sectional study included 2,581 adolescents (1,415 girls, 1,166 boys, mean age ± SD 15.6 ± 0.5 years) representing 10% of 15-year-old Slovenian adolescents. Iodine intake was determined using a food frequency questionnaire (FFQ) in the whole population studied (n = 2,485) and weighted 3-day dietary protocols (3DPs) in a subgroup of participants (n = 191). Results: Median iodine intake determined from FFQ was 155.8 µg/day. There was no significant difference between genders. Marginal, low and excessive iodine intake was observed in 3.3, 20.3 and 11.3% of the adolescents, respectively. The major food sources of dietary iodine included table salt (39 % of the mean daily iodine intake), beverages (22%) and milk/milk products (19%). Conclusions: Dietary iodine intake in Slovenian adolescents is adequate, illustrating the effective salt iodization program.
Activation of the V2 receptor by arginine vasopressin (AVP) results in trafficking of the water channel AQP2 to the luminal plasma membrane and a small amount into the urine. Mutations in the A VPR2 ...gene, encoding the AVP V2 receptor, result in congenital nephrogenic diabetes insipidus (CNDI). To determine a correlation between A VPR2 mutations and urinary AQP2 excretion, immunobloting was used to detect AQP2 in the urine of patients with CNDI before and after a dehydration test. The patients' genotype was determined using PCR amplification and direct sequencing of the complete A VPR2 gene. Urinary AQP2 excretion was absent in patients with severely debilitating mutations, a novel total deletion of the A VPR2 gene, and a novel nonsense mutation W296X. However, it was detected in siblings with a V88M missense mutation. Urinary AQP2 excretion correlated well with other tested phenotype markers. Urinary AQP2 excretion could be used to evaluate the remaining in vivo integrity of the AVP-V2 receptor-AQP2 cascade in patients with CNDI.
Adrenal bleeding in a newborn is rare. The cause of bleeding is unknown, most likely due to several factors. Bleeding may be minimal with no clinical signs or fulminant with acute adrenal ...insufficiency, which is a life-threatening situation that requires immediate detection and treatment.In this paper we represent a clinical case of a term neonate born to the mother with gestational diabetes, who was hospitalised due to high early hyperbilirubinemia. Significant bleeding in both adrenal glands was identified by ultrasound and primary adrenal insufficiency diagnosed. We discuss possible causes, the diagnostic clues, the treatment of disease and its prognosis.
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