Cyclic Cushing’s syndrome (also known as intermittent or periodic) is a disease characterized by periods of transient hypercortisolemia shifting into periods of normo- and/or hypocortisolemia. Diagnosis of cyclic Cushing’s syndrome is based on at least three periods of confirmed hypercortisolemia interspersed by two periods of normocortisolemia. Cyclic Cushing’s syndrome is one of the greatest challenges in modern endocrinology due to its diverse clinical picture, unpredictable duration and frequency of phases, and various etiologies. We discuss a diagnostic algorithm for periodic hypercortisolemia with special regard to hair cortisol analysis and desmopressin stimulation test which both seem to be helpful in finding the correct answer.
Introduction: The risk of obesity in children with Down syndrome is high. Undoubtedly, proper nutrition plays an important role in the prevention of excess body weight and is associated with a reduction of metabolic complications. The aim of the study was to assess the problem of disturbances in the nutritional status and eating habits of children with DS. Methods: A total of 39 patients were included in the study. The nutritional status was assessed by anthropometric tests and Dual X-ray Absorptiometry. Eating habits were assessed using the Child Eating Behavior Questionnaire and the Food Frequency Questionnaire. Blood samples were taken to determine the oxidative stress and lipid parameters. Results: Obesity was recognized in 15% of subjects and 23% were overweight. Children that were overweight were characterized by higher levels of triglycerides, atherogenic index of plasma, and apoA2 and apoE levels. Fat mass, fat mass/height2 index, and visceral fat mass correlated with thiobarbituric acid reactive substances and advanced oxidative protein product level. The analysis of the Child Eating Behavior Questionnaire showed that children struggling with being overweight were more interested in food compared to those with normal body weight. A positive correlation was identified between waist circumference and food interest categories. Insufficient consumption of dairy products, vegetables, whole grain products, as well as fruits, seeds, nuts, and fatty fish was noted. Patients were less likely to consume products that are a good source of mono- and polyunsaturated fatty acids. Conclusions: In children with Down syndrome and obesity, disturbances in lipid and oxidative stress parameters are observed. Abnormal eating habits in all children with Down syndrome regardless of their nutritional status were noted. Proper nutritional education, nutritional control, and management of metabolic problems are essential in this group of patients.
Introduction: Cortisol concentration is measured in blood, urine, and saliva samples. It has been recently proven that cortisol could also be detected in hair samples. Cortisol measurements in different samples have their own individual characteristics and clinical utility. We aimed to investigate the correlation between hair cortisol concentration and standard cortisol measurements used in clinical practice. Material and methods: Fifty adult volunteers with a negative history of endocrine disorders were enrolled in the study. Morning serum cortisol (MSC), evening serum cortisol (ESC), evening free salivary cortisol (EFSC), urine free cortisol (UFC), and hair cortisol concentration (HCC) were analysed in all participants. Eventually, 41 volunteers were included into the study, whose cortisol concentration in the 1 mg overnight dexamethasone suppression test (1 mg ONDST) were < 50 nmol/L, and cortisol levels in serum, saliva, and urine were within reference ranges. Hair cortisol concentration test was performed for 20 mg of hair strands of the proximal 1 cm hair segments. Results: Hair cortisol concentration ranged from 0.3036 to 2.65 nmol/L/mg, and the average value was 0.8125 ± 0.4834 nmol/L/mg. No significant correlations were found between HCC and MSC (rho = 0.04419, p = 0.7838), HCC and ESC (rho =-0.2071, p = 0.1938), HCC and EFSC (rho = 0.1005, p = 0.532), or HCC and UFC (rho = 0.1793, p = 0.262). Conclusions: This work is another step in the discussion on the application of HCC determinations in clinical practice. Our results have showed no correlations between HCC and single point cortisol assessment in blood, saliva, and urine in patients with reference cortisol levels.
Background: The relationship between intelligence quotient (IQ) and somatic development, especially growth, has been demonstrated in various groups of children. Down syndrome (DS) is characterized by short stature, overweight, and cognitive impairment. The objective of our work was to assess whether anthropometric measurements [weight, height, body mass index (BMI)] of children with DS correlate with their IQ. The results of the study may be valuable for this population in the light of increasing access to growth hormone therapy (GHT) in various genetic syndromes with short stature. Based on previous studies on children, we hypothesized that a link exists between IQ and somatic development, particularly growth.Methods: This cross-sectional study included 40 children with DS, who were aged 9-18 years. The studied population was selected from the registry of the Genetic Clinic at the University Clinical Center in Gdańsk (Poland). Anthropometric measurements (weight and height) were taken for all the children, and their BMI was determined using these data. The obtained results were plotted on charts for children with DS. The IQ of the children was assessed using the Stanford Binet Intelligence Scale, Fifth Edition. The correlations between IQ and anthropometric data were analyzed using univariate correlation and multiple regression analyses. Results:The results showed that full-scale, verbal, and nonverbal IQ correlated with height percentile (P=0.03, P=0.02, and P=0.04, respectively), but not with weight (P=0. 26, P=0.19, and P=0.61, respectively) or BMI (P=0.6, P=0.5, and P=0.72, respectively). In multiple linear regression analysis, height percentile remained as an independent determinant of the IQ results after adjusting for birth weight, hypothyroidism with L-thyroxine replacement therapy, and congenital cardiac defect (β=0.48, P=0.018). Conclusions:The results of our study suggest an association between growth and IQ in children with DS. The presented findings may be valuable for improving access to GHT for populations with genetic syndromes characterized by short stature. However, these should be confirmed by further research with a longitudinal sample of children with DS.
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