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Hyperandrogenemia modifies phenotypic characteristics of women with polycystic ovary syndrome (PCOS). The aim of the present study is to evaluate (a) the prevalence of hyperandrogenemia in PCOS women (Rotterdam criteria) and (b) the impact of either the degree or the type of hyperandrogenemia on phenotype. Anthropometric, clinical, hormonal, metabolic and ultrasound characteristics of 1,218 women with PCOS were analyzed in this cross-sectional study. The prevalence of hyperandrogenemia was 58.8 %. Women with hyperandrogenemia had higher luteinizing hormone (LH), follicle-stimulating hormone (FSH), free androgen index, lower sex-hormone-binding globulin (SHBG) and fasting glucose levels compared to women with normal androgens (p < 0.001 for all comparisons; p = 0.001 for fasting glucose). Regarding the presence of isolated hyperandrogenemia, the group with only elevated testosterone levels was termed GT and an analogous categorization was made for dehydroepiandrosterone sulfate (GD) and androstenedione (Δ4) (GΔ4), respectively. GT, GD and GΔ4 comprised the 17.2, 7.6 and 4.1 % of total cohort, respectively. These groups differed significantly between them in LH, LH/FSH ratio, and SHBG (p < 0.001). Hyperandrogenemia is found in almost 60 % of women with PCOS (Rotterdam criteria), and it affects hormonal characteristics of these women such as LH and SHBG values. Regarding the impact of isolated hyperandrogenemia on PCOS characteristics, it appears that Δ4 and testosterone elevations are associated with increased LH levels.
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Hiperandrogenismo/epidemiología , Síndrome del Ovario Poliquístico/epidemiología , Adulto , Andrógenos/sangre , Índice de Masa Corporal , Estudios Transversales , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Hiperandrogenismo/sangre , Hormona Luteinizante/sangre , Síndrome del Ovario Poliquístico/sangre , Prevalencia , Globulina de Unión a Hormona Sexual/análisis , Adulto JovenRESUMEN
OBJECTIVES: The extraskeletal effects of vitamin D have attracted considerable interest. Vitamin D deficiency appears to be related to the development of diabetes mellitus type 2 and the metabolic syndrome. Vitamin D may affect glucose homeostasis, vitamin D levels having been found to be inversely related to glycosylated hemoglobin levels in gestational diabetes mellitus. In addition, vitamin D appears to protect from the development of gestational diabetes mellitus. The aim was to study levels of 25-hydroxy vitamin D3 [25(OH)D3] and the relationship between 25(OH)D3 levels and glycemic control in patients with diabetes mellitus type 2. METHODS: Glycosylated hemoglobin (HbA1c) and 25(OH)D3 levels were measured in a group of 120 diabetes mellitus type 2 patients. The same measurements were performed in a group of 120 control subjects of the same age and sex. 25(OH)D3 was measured by radioimmunoassay and glycosylated hemoglobin (HbA1c) was measured by high-performance liquid chromatography. RESULTS: 25(OH)D3 levels were lower in the diabetes mellitus type 2 patients than in the control group, being 19.26 ± 0.95 ng/ml and 25.49 ± 1.02 ng/ml, in the patient and control groups, respectively (p < 0.001, Student's t-test). 25(OH)D3 levels were found to be inversely associated with HbA1c levels in the diabetic patients (p = 0.008, r (2) = 0.058, linear regression). 25(OH)D3 levels were found to be inversely associated with HbA1c when the patient and control groups were analysed together (p < 0.001, r (2) = 0.086). CONCLUSIONS: Vitamin D levels appeared to be lower in diabetes mellitus type 2 patients than in the control group, vitamin D levels being related to glycemic control in diabetes mellitus type 2. These findings may have therapeutic implications as cautious vitamin D supplementation may improve glycemic control in diabetes mellitus type 2.
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BACKGROUND: Although thyroid ultrasound is a valuable tool for the diagnosis and follow-up of patients with Hashimoto's thyroiditis (HT), classical sonographic findings are not always present. AIM: To calculate the time needed for children with HT and normal ultrasound at diagnosis to develop characteristic sonographic findings. PATIENTS AND METHODS: 105 children (23 male and 82 female) with HT (mean age 9.4 +/- 2.9 years) were studied. Physical examination and measurements of TSH and fT4 levels were performed at diagnosis, at 3-month intervals for the first year, and twice yearly thereafter. Thyroid ultrasound was performed at diagnosis and twice yearly thereafter. The median follow-up duration was 18 months (range: 6-61 months). RESULTS: The time needed for 30%, 50%, and 70% of children to demonstrate an abnormal thyroid sonographic pattern was 4, 7, and 14 months, respectively. Important factors accelerating sonographic changes were goiter (p = 0.023), hypothyroidism (p = 0.0255), and seropositivity for both thyroid peroxidase (anti-TPO) and thyroglobulin (anti-Tg) autoantibodies (p = 0.0005). CONCLUSION: Sonographic findings of HT are present in 37% of children at diagnosis. Fifty percent of children with normal initial thyroid US will develop changes within 7 months; however, characteristic findings may not develop for over 4 years.
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Enfermedad de Hashimoto/diagnóstico por imagen , Glándula Tiroides/diagnóstico por imagen , Autoanticuerpos/sangre , Niño , Femenino , Estudios de Seguimiento , Humanos , Yoduro Peroxidasa/inmunología , Masculino , Tiroglobulina/inmunología , Tiroiditis Autoinmune/diagnóstico por imagen , Tirotropina/sangre , Tiroxina/sangre , Factores de Tiempo , UltrasonografíaRESUMEN
BACKGROUND: Elevated titers of antibodies against different herpes virus antigens have been reported in some immunodeficient and systemic autoimmune disorders. OBJECTIVE: To examine if Herpes Simplex Virus (HSV), Epstein-Barr virus (EBV), and cytomegalovirus (CMV) IgG and IgM antibodies are detected more frequently in children with autoimmune thyroid disease (AITD) compared to controls. SUBJECTS AND METHODS: Thirty-four children with AITD, aged 9.62 +/- 2.35 years, and 31 matched controls, aged 9.24 +/- 2.98 years, were studied. RESULTS: The percentage of EBV IgG+ children with AITD was statistically higher than the percentage of EBV IgG+ controls (82.35% versus 51.61%, P = 0.008). The percentage of EBV IgG+ children with AITD and hypothyroidism was statistically higher than the percentage of EBV IgG+ children with AITD, without hypothyroidism (100% versus 70%, P = 0.024). No other statistically significant differences were observed in HSV-1+2, and CMV IgG or IgM antibodies between the subgroups of children studied. CONCLUSIONS: EBV seroprevalence is higher in children with AITD compared to controls and the underlying pathology remains to be elucidated.
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Anticuerpos Antivirales/análisis , Herpesviridae/inmunología , Tiroiditis Autoinmune/epidemiología , Tiroiditis Autoinmune/inmunología , Niño , Citomegalovirus/inmunología , Femenino , Bocio/epidemiología , Bocio/inmunología , Bocio/virología , Herpesvirus Humano 4/inmunología , Humanos , Inmunoglobulina G/análisis , Inmunoglobulina M/análisis , Masculino , Estudios Seroepidemiológicos , Tiroiditis Autoinmune/virologíaRESUMEN
OBJECTIVE: Familial medullary thyroid carcinoma (FMTC) is caused by germ-line mutations in the RET proto-oncogene. These mutations concern mainly cysteine residues in exons 10 and 11, whereas noncysteine mutations in exons 13-16 are rare. Mutations in other exons have been reported only in isolated families. In this study we have analysed the RET gene in two FMTC families negative for mutations in the above exons. DESIGN: We have analysed exons 7-19 and 21 in one index patient from each family using DNA sequencing. PATIENTS: Twenty-eight subjects from both families were clinically assessed and subsequently molecularly analysed for the presence of RET gene mutations. RESULTS: We have found the mutation c.1597G-->T (Gly533Cys) in two Greek families with FMTC. The mutation was detected in all seven MTC patients of both families as well as in 13 asymptomatic relatives in the heterozygote state, although one of the patients was also a homozygote due to consanguinity. The mutation shows a wide clinical heterogeneity, as there are carrier patients with age of diagnosis ranging from 23 to 88 years. CONCLUSIONS: It is likely that this mutation causes FMTC, as no other mutation was found in the RET gene, the mutation co-segregates with FMTC, and family members without the mutation are clinically unaffected. As the same point mutation was previously found in a large Brazilian family, it may be present in other populations as well. Therefore, exon 8 of RET should be screened in FMTC families with no identified common RET mutations.
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Carcinoma Medular/genética , Mutación Puntual , Proteínas Proto-Oncogénicas c-ret/genética , Proto-Oncogenes , Neoplasias de la Tiroides/genética , Adulto , Anciano , Anciano de 80 o más Años , Consanguinidad , Análisis Mutacional de ADN , Exones , Femenino , Pruebas Genéticas , Grecia , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Linaje , Proto-Oncogenes MasRESUMEN
CONTEXT: Primary hyperparathyroidism (PH) is characterized by inappropriate PTH elevation with or without hypercalcemia. Bone disease involves catabolic action at cortical sites, whereas cancellous sites and geometry might be relatively preserved. OBJECTIVE: Our objective was to examine the effect of PH on quantitative and qualitative bone characteristics using peripheral quantitative computed tomography at the tibia in postmenopausal women with PH and healthy controls. DESIGN AND SETTING: We conducted a cross-sectional study at a tertiary referral center. PATIENTS: Fifty-two postmenopausal women with PH and 56 healthy controls, comparable for age and anthropometric measures, participated. INTERVENTION: There was no intervention. MAIN OUTCOME MEASURE: We assessed volumetric bone mineral density (vBMD), bone mineral content (BMC), cortical thickness, cortical and trabecular area, peri- and endosteal circumference, and polar stress strength index assessed by peripheral quantitative computed tomography of the left tibia at 4% (cancellous), 14% (transition zone), and 38% (cortical) from the distal end. RESULTS: At 4%, there was a significant decrease of trabecular BMC and vBMD (P < 0.001), effect particularly evident in hypercalcemic patients, whereas trabecular area was comparable. At 38%, cortical BMC (P < 0.01), vBMD (P < 0.01), area (P < 0.05), and thickness (P < 0.001) were reduced in the PH group, particularly in hypercalcemic patients. Endosteal circumference increased (P < 0.001), whereas periosteal circumference was comparable, indicating cancellization of cortical bone. At 14%, polar stress strength index was significantly decreased (P < 0.01) in hypercalcemic patients, indicating impairment of bone mechanical properties. CONCLUSIONS: Normocalcemic PH is characterized by catabolic actions at both cortical and cancellous sites (38 and 4%, respectively), an effect accentuated in hypercalcemic patients. Cortical geometric properties are adversely affected even in normocalcemic patients, whereas trabecular properties are generally preserved.