143 research outputs found
Precocious Puberty in Patients with Primary Adrenal Insufficiency due to Melanocortin Receptor 2 Mutation
No full textMetabolic syndrome in young people
No full textPurpose of reviewThe prevalence of obesity is on the increase, and consequently metabolic syndrome is also becoming a serious health problem in children and adolescents all over the world. This review attempts to summarize the recent literature on metabolic syndrome in children and adolescents.Recent findingsTo date, a standard definition of metabolic syndrome for the pediatric population is not available. Recently, the International Diabetes Federation has proposed a new set of criteria to define metabolic syndrome in children and adolescents aged 6-16 years. The relationships between obesity, insulin resistance and metabolic syndrome may be explained by the pattern of lipid partitioning. Fatty liver plays a central role in the insulin-resistant state in obese adolescents. Although insulin resistance has been proposed as the central factor leading to the abnormalities observed in metabolic syndrome, most definitions of metabolic syndrome use impaired fasting glucose as a marker. Nutrition impairment during both prenatal and early postnatal life can cause metabolic disturbances leading to insulin-resistance, type 2 diabetes, hypertension and cardiovascular disease.SummaryMetabolic syndrome prevalence in children and adolescents is on the increase. Therefore, the emphasis in all studies and programs related to metabolic syndrome should be focused on prevention, early detection of metabolic risk factors and interventions that will have a significant impact on future adult health
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
No full textOsteoporosis-pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early-onset osteoporosis and congenital blindness, caused by loss-of-function mutations in the LRP5 gene. Beneficial effects of bisphosphonate treatment in patients with OPPG are well known, while follow-up data on growth and pubertal parameters are limited. This article provides clinical follow-up data and long-term bisphosphonate treatment results in four OPPG patients from three unrelated families, ranging between 2.5 and 7 years of age at presentation. Clinical diagnosis was molecularly confirmed in all patients, with four different germline biallelic LRP5 mutations including a novel nonsense variant c.3517C>T (p.(Gln1173*)) in two siblings with marked phenotypic variability. Anthropometric and pubertal data and bone mineral density (BMD) measurements were evaluated retrospectively. Early puberty was observed in two patients. The bisphosphonate treatment duration of patients varied around 4-7 years and improvement in BMD z-scores with bisphosphonate treatment was demonstrated in all patients (z-score changes were +5.6, +4.0, +1.0, and +1.3). Although further research is needed to identify the possible association between early puberty and OPPG, all OPPG patients should be followed up with detailed endocrinological evaluation regarding pubertal status
Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey
No full textWOS: 000451667000006PubMed ID: 29789274Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study
LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency
No full textThe biological role of the lipopolysaccharide-responsive beige-like anchor (LRBA) protein associated with the immune system is not to date well known. However, it is thought to regulate the CTLA4 protein, an inhibitory immunoreceptor. Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency. This rare disease is observed as a result of homozygous mutations in the LRBA gene. An 11.3-year-old male patient presented because of short stature and high blood glucose level. He had a previous history of lymphoproliferative disease, chronic diarrhea, and recurrent infections. His parents were first-degree consanguineous relatives. A diagnosis of type 1 diabetes mellitus (T1DM) was added to the preexisting diagnoses of immunodeficiency, recurrent infection, enteropathy, chronic diarrhea, lymphadenopathy, hepatomegaly, and short stature. Genetic analysis revealed a homozygous mutation in the LRBA gene, c.5047C>T (p.R1683*) (p.Arg1683*). Abatacept treatment was started: the patient's hospital admission frequency decreased, and glucose regulation improved. At follow-up, growth hormone (GH) deficiency was diagnosed, although it was not treated because the underlying disease was not under control. Nevertheless, the patient's height improved with abatacept treatment. LRBA deficiency should be considered in the presence of consanguineous marriage, diabetes, immunodeficiency, and additional autoimmune symptoms. LRBA phenotypes are variable even when the same variants in the LRBA gene are present. Genetic diagnosis is important to determine optimal treatment options. In addition to chronic malnutrition and immunosuppressive therapy, GH deficiency may be one of the causes of short stature in these patients
Prevalence of Testicular Microlithiasis in Males with Congenital Adrenal Hyperplasia and Its Association with Testicular Adrenal Rest Tumors
No full textBackground: Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. Aim: To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). Patients and Methods: Scrotal ultrasound using a high-frequency linear transducer (12 MHz) was performed in 41 patients aged 12.1 +/- 4.7 (range 3.523.3) years and 49 healthy similarly aged controls. TM was classified with respect to the number of microliths per ultrasound field as limited (LTM, = 5 microliths). CTM was graded as grade 1 (5-10 microliths), grade 2 (11-20 microliths), and grade 3 (>20 microliths). Results: TM was detected bilaterally in 9 (21.9%) patients and 2 (4.1%) control cases (1 bilateral, 1 unilateral). Four patients had LTM, one evaluated as grade 1, one as grade 2, and three as grade 3. There were 9 patients with TART. Four patients had TM and TART concomitantly. Conclusion: Because TM is frequently found in patients with CAH and may also exist concomitantly with TART, we recommend that these patients be followed annually by testicular ultrasound. Copyright (C) 2010 S. Karger AG, Base
Clinicopathological Characteristics of Papillary Thyroid Cancer in Children With Emphasis on the Pubertal Status and Association With BRAFV600E Mutation
No full textTHE RELATIONSHIP OF OBESITY AND INSULIN RESISTANCE WITH HYPERANDROGENEMIA, ANTI-MULLERIAN HORMONE, INHIBIN A, INHIBIN B AND INSULIN-LIKE PEPTIDE-3 LEVELS IN PATIENTS WITH POLYCYSTIC OVARY SYNDROME
No full textWhich target height estimation is appropriate for children with idiopathic short stature?
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