المؤلفون: Gudrun Wagner, Diana-Alexandra Ertl, Elke Fröhlich-Reiterer, Caroline Culen, Peter Blümel, Marion Herle, Gabriele Häusler

المصدر: Clinical Endocrinology

مصطلحات موضوعية: Adult, medicine.medical_specialty, Transition to Adult Care, Transition readiness, Adolescent, Endocrinology, Diabetes and Metabolism, Turner Syndrome, 030209 endocrinology & metabolism, health autonomy, TRAQ, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Internal medicine, Surveys and Questionnaires, Turner syndrome, medicine, Outpatient clinic, Humans, Young adult, Child, Aged, Type 1 diabetes, Paediatric Endocrinology, Descriptive statistics, healthcare transition, business.industry, medicine.disease, adolescent health, assessment questionnaire, Diabetes Mellitus, Type 1, 030220 oncology & carcinogenesis, Chronic Disease, Original Article, Female, ORIGINAL ARTICLES, business, Neurocognitive, Clinical psychology, Adolescent health

الوصف: Objective Young women with Turner syndrome (TS) are known to be at risk for loss to medical follow‐up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. So far, studies in young women with TS investigating their transition readiness compared to youths with other chronic conditions with no or minor neurocognitive challenges have not been reported. Methods Patients (n = 52), 26 patients with Turner syndrome (mean age 17.24 ± 2.10) and 26 controls with type 1 diabetes or a rheumatic disease (mean age 17.41 ± 2.44), were recruited from specialized paediatric endocrine outpatient clinics. The Transition Readiness Assessment Questionnaire TRAQ‐GV‐15 was used to compare transition readiness scores between TS and controls. In addition, information on individual handling of the questionnaire was obtained. Descriptive statistics and nonparametric methods were used to analyse the data. Results Significant differences for transition readiness scores were found between the two study groups. The global TRAQ‐GV‐15 score was significantly lower for females with TS. In particular, subscale 1 ‘autonomy’ of the TRAQ‐GV‐15 showed lower scores in patients with TS. Patients with TS needed significantly more help and more time to complete the questionnaire. Conclusion Special attention should be given to young women with Turner syndrome in the preparation for the transitional phase. By incorporating the assessment of transition readiness specialists will find it easier to identify underdeveloped skills and knowledge gaps in their patients. Unless a multidisciplinary young adult clinic is established, an older age than 18 years at transfer to adult endocrine care might be beneficial.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1896202272c47bc98595f2be8c2fe576Test
https://pubmed.ncbi.nlm.nih.gov/33464630Test

المؤلفون: Julian A. Heno, Diana-Alexandra Ertl, Gabriele Häusler, Talin Gulesserian, Christiane Pees, Ina Michel-Behnke

المصدر: Heart and Vessels

مصطلحات موضوعية: Aortic valve, Male, medicine.medical_specialty, Adolescent, Vascular Malformations, Coarctation of the aorta, Turner Syndrome, 030204 cardiovascular system & hematology, Vascular disease, Pediatrics, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Vascular Stiffness, Risk Factors, medicine.artery, Internal medicine, Turner syndrome, Ascending aorta, medicine, Genetics, Humans, Abnormalities, Multiple, Child, Aorta, business.industry, Infant, Newborn, Infant, medicine.disease, Elasticity, Cardiac surgery, Dissection, medicine.anatomical_structure, Echocardiography, Aortic Valve, Child, Preschool, Cardiology, cardiovascular system, Original Article, Female, Cardiology and Cardiovascular Medicine, business

الوصف: Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early as in the second decade. Known risk factors (RF) are bicuspid aortic valves (BAV), coarctation of the aorta (CoA), and arterial hypertension. Since 10% of dissections occur in patients without RF, an intrinsic aortic wall abnormality has been postulated. This study aimed to investigate the elasticity of the ascending aorta as a surrogate marker of aortic wall texture. Forty-six pediatric patients with genetically proven TS were prospectively examined for the morphology of their aortic valve, and size and elasticity indices of the adjacent aorta. Cohorts of 46 female subjects with tricuspid aortic valves (TAV) and ten non-syndromic females with BAV were investigated as separate control groups. Comparison of healthy controls with TS patients revealed significantly deteriorated elasticity indices in those with TS. Furthermore, normalized aortic dimensions were greater in TS patients, but dilatations of the ascending aorta with z-score levels above two were restricted to those with BAV (14/46). Deteriorated elasticity indices were measured in TS patients, independent of aortic dilatation, BAV, and CoA, and were comparable to those of patients with isolated, non-syndromic BAVs. By measuring elasticity levels as a surrogate for aortic wall texture, we were able to gather evidence that TS presents with an intrinsic abnormality of the ascending aorta even in patients without concomitant BAV, CoA or dilatations as early as in childhood.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b511fc9ca42846aa8f163c905be46bbTest
http://europepmc.org/articles/PMC6208677Test

المؤلفون: Andreas Gleiss, Gabriele Häusler, Stefan Riedl, Veronika Riedl-Schlauss

المصدر: Wiener Klinische Wochenschrift

مصطلحات موضوعية: Male, Adolescent, education, 030204 cardiovascular system & hematology, Social class, Childhood obesity, Body Mass Index, Obesity epidemics, 03 medical and health sciences, 0302 clinical medicine, Lower body, Adolescent growth, medicine, Humans, Mass index, 030212 general & internal medicine, Obesity, Child, Students, Socioeconomic status, School type, Schools, business.industry, General Medicine, Overweight, medicine.disease, Body Height, Cross-Sectional Studies, Austria, Female, Original Article, business, Body mass index, Demography

الوصف: Summary Background In developed countries high socioeconomic status (SES) is associated with lower body mass index (BMI) and greater height compared with low SES. Aim To investigate differences in BMI/height in adolescent students from two different school types with divergent SES backgrounds. Methods A total of 4579 students (2313 female), aged 11–16 years, attending either low SES vocation-directed secondary schools (VSS) or high SES secondary academic schools (AHS) were compared. Potential differences were investigated using ANCOVA models including sex, school type, geographical region and degree of urbanicity. Results At all ages between 11 and 16 years the BMI of students attending VSS was significantly higher than that of students attending AHS (mean +0.87kg/m2). The AHS students were on average taller (mean +0.93cm; p100,000 (p

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86fb08a0fccf222dfd40a5e1abfda044Test
https://pubmed.ncbi.nlm.nih.gov/30937540Test

المؤلفون: Michael Mayer, Peter Blümel, Andreas Gleiss, Klaus Kapelari, Klaus Schmitt, Gabriele Häusler, Gerhard Köstl, Michael Schemper, Martin Borkenstein, Michael Lassi

المصدر: Annals of Human Biology. 42:45-55

مصطلحات موضوعية: Male, Aging, Pediatrics, medicine.medical_specialty, Percentile, Adolescent, Physiology, Epidemiology, Population, Overweight, Body weight, Body Mass Index, Reference Values, Genetics, Humans, Medicine, Obesity, Child, education, education.field_of_study, business.industry, Body Weight, Public Health, Environmental and Occupational Health, nutritional and metabolic diseases, Reference Standards, medicine.disease, Austria, Child, Preschool, Reference values, Female, Underweight, medicine.symptom, business, Body mass index, Demography

الوصف: BMI reference charts are widely used to diagnose overweight, obesity and underweight in children and adolescents.To provide up-to-date national reference values for Austria.A cross-sectional sample of over 14 500 children and adolescents (4-19 years) stratified by provinces according to age- and sex-specific population proportions was drawn via schooling institutions (kindergartens, schools and vocational colleges). The generalized additive models for location, scale and shape were used for a flexible estimation of percentile curves.Austrian boys and girls have higher average weight compared with previous prevalence data. BMI centiles matching BMI values at age 18 years, which are used for defining thinness, overweight and obesity in adults, were calculated. In Austria, using reference values as thresholds, ∼18% of boys and 12% of girls are overweight (with thresholds passing through BMI 25.00-29.99 kg/m(2) in adults) and 5% of boys and 3% of girls are obese (with thresholds passing through BMI ≥30.00 kg/m(2) in adults).Overweight and obesity are common in Austria and their prevalence is increasing (using the same IOTF reference for international comparison). Up-to-date national BMI reference values are provided to classify children and adolescents according to the proposed overweight and obesity thresholds.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf813502e366ff1fe3525c48a0ef388Test
https://doi.org/10.3109/03014460.2014.907444Test

المؤلفون: Stefan Riedl, Glynis Price, Alexander Springer, Gabriele Häusler, Stefan A. Wudy, Annette Richter-Unruh, Elisabet Stener-Victorin

المصدر: The Journal of clinical endocrinology and metabolism. 98(8)

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, 46, XX Disorders of Sex Development, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Chorionic Gonadotropin, Human chorionic gonadotropin, Ovarian Hyperstimulation Syndrome, Endocrinology, Aromatase, Pregnancy, Internal medicine, medicine, Humans, Androstenedione, Infertility, Male, biology, business.industry, Biochemistry (medical), Hyperandrogenism, Postpartum Period, Infant, Newborn, medicine.disease, Virilism, Polycystic ovarian disease, Pregnancy Complications, Estrogen, biology.protein, Gynecomastia, Female, business, Aromatase deficiency, hormones, hormone substitutes, and hormone antagonists, Postpartum period, Metabolism, Inborn Errors

الوصف: Aromatase deficiency due to a CYP19A1 defect leads to fetoplacental inability to convert androgens into estrogens. Pregnant mothers experience virilization caused by excess nonaromatized fetal androgens entering the maternal circulation. Biochemical normalization is believed to take place shortly after delivery.We report prolonged postnatal hyperandrogenism and enlarged multicystic ovaries in the mother of an affected 46,XX infant and hypothesize a possible pathogenetic mechanism.We investigated the mother on days 12 and 20 after delivery. FSH, LH, T, estradiol (E2), androstenedione (A), dehydroepiandrosterone-sulfate (DHEA-S), and human chorionic gonadotropin (hCG) plasma levels were obtained, and ovarian ultrasonography and magnetic resonance imaging were performed.T (1040 ng/dL), A (6940 ng/dL), and E2 (2787 pg/mL) levels were markedly elevated on day 12 after delivery, whereas LH and FSH were suppressed (0.1 IU/L). On day 20, all hormones had decreased significantly; however, T, A, and E2 still remained 3.5-, 2.2-, and 1.4-fold elevated, respectively, as compared to upper reference values. hCG (18.9 U/L) was still increased. DHEA-S was normal on both occasions. Sonography and magnetic resonance imaging revealed enlarged ovaries, with several cysts up to 4 cm. There was no history of polycystic ovary syndrome.We hypothesize that persistent ovarian overstimulation by hCG had occurred in the mother during pregnancy, leading to prolonged autonomous excess production of androgens during the first weeks after delivery. As a causative mechanism, we propose that gestational hyperandrogenism and hypoestrogenism reduced inhibition of placental GnRH and hCG secretion by progesterone, resulting in persistently elevated hCG.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7abed2d8294909b9585aa03074151886Test
https://pubmed.ncbi.nlm.nih.gov/23824416Test

المؤلفون: Klaus Kapelari, Michael Lassi, Michael Mayer, Peter Blümel, Andreas Gleiss, Michael Schemper, Martin Borkenstein, Gabriele Häusler

المصدر: Annals of human biology. 40(4)

مصطلحات موضوعية: Male, Aging, Percentile, Adolescent, Physiology, Epidemiology, Cross-sectional study, Population, World Health Organization, Body Mass Index, Genetics, Humans, Growth Charts, education, Child, Estimation, education.field_of_study, Body proportions, Anthropometry, Public Health, Environmental and Occupational Health, Reference Standards, Body Height, Sitting height, Geography, Cross-Sectional Studies, Austria, Child, Preschool, Female, Body mass index, Demography

الوصف: Previous studies have demonstrated differences between national and the WHO reference curves in children older than 5 years. Moreover, reference curves for body proportions (sitting height, subischial leg length and their ratio) based on state-of-the-art statistics are not available.To develop reference curves for height and body proportions for use in Austria and compare the curves with WHO reference curves. To estimate and statistically investigate extreme percentiles.A sample of ∼14 500 children between 4-19 years of age was drawn via schooling institutions, stratified by provinces according to age- and sex-specific population proportions. GAMLSS models were used for a flexible estimation of percentile curves.After the age of 5 years national reference curves are more suitable than the WHO reference curves for clinical use in Austria. These height curves are very similar to the German reference curves published recently. Therefore, these reference curves for criteria of body proportions are recommended for use in other populations. Further validation studies are needed to establish whether the recently recommended -2.5 and -3.0 SD for height are a sensitive and specific cut-off in the diagnostic work-up for children with a suspected growth disorder using this new Austrian height chart.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a23866c094ee997e27d4e12c670c16Test
https://pubmed.ncbi.nlm.nih.gov/23590681Test

المؤلفون: Edith Schober, Jan Lebl, Susanne Sagmeister, Gabriele Häusler, Herwig Frisch

المصدر: Hormone Research. 40:204-208

مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Urinary system, Dawn phenomenon, Urine, Nocturnal, Biology, Growth hormone, Excretion, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Humans, Child, medicine.disease, Hypoglycemia, Growth hormone secretion, Circadian Rhythm, Diabetes Mellitus, Type 1, Growth Hormone, Female

الوصف: A potential relation was evaluated between nocturnal urinary growth hormone (GH) excretion as a parameter for integrated GH secretion and the course of blood glucose (BG) levels during night and morning hours. Twelve diabetic children aged 11.6 +/- 2.0 years (mean +/- SD), with diabetes duration 4.4 +/- 1.6 years, took part in the study. Urine for GH estimation by a highly sensitive EIA was collected from 24.00 to 07.00 h during a diabetic summer camp. BG was monitored at 24.00, 04.00 and 07.00 h. Mean nocturnal GH excretion measured from 158 collections was 5.6 +/- 5.1 ng/g creatinine, with a wide range of 0.36-36.6. Remarkable intra-individual variations were found between distinct nights. GH excretion correlated positively with BG levels at 07.00 h (p = 0.003) and with the increment of BG between 24.00 and 07.00 h (p = 0.002). Thus, endogenous variations in nocturnal GH levels may be involved in the day-to-day fluctuations in fasting BG in diabetic subjects.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::683d8d03c4c6c0cd1b3d42c2dffe5806Test
https://doi.org/10.1159/000183796Test

المؤلفون: Gabriele Häusler, Tim M. Strom, Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano

المصدر: American journal of human genetics. 86(2)

مصطلحات موضوعية: Fibroblast growth factor 23, Male, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Genes, Recessive, Sodium-Phosphate Cotransporter Proteins, Type IIc, Biology, medicine.disease_cause, Sodium-Phosphate Cotransporter Proteins, Type IIa, Generalized arterial calcification, Tubulopathy, Internal medicine, Report, Genetics, medicine, Humans, Genetics(clinical), Family, Amino Acid Sequence, Pyrophosphatases, Child, Genetics (clinical), Mutation, Phosphoric Diester Hydrolases, PHEX, Calcinosis, medicine.disease, Pedigree, Arterial calcification, Hypophosphatemic Rickets, Fibroblast Growth Factor-23, Endocrinology, Child, Preschool, Female, Familial Hypophosphatemic Rickets, Calcification

الوصف: The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide pyrophosphatase/phosphodiesterase) in members of four families affected with hypophosphatemic rickets. We provide evidence for the conclusion that ENPP1 is the fourth gene—in addition to PHEX, FGF23, and DMP1—that, if mutated, causes hypophosphatemic rickets resulting from elevated FGF23 levels. Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609460916f0c47a88fce498a64c18b03Test
https://pubmed.ncbi.nlm.nih.gov/20137773Test

المؤلفون: Herwig Frisch, Gabriele Häusler, Susanne Fricke-Otto, Alexandra Renz, Michael B. Ranke, Gerhard Binder, Juan J. Heinrich, Alicia Martínez, Volker Hesse, Ana Keselman, Stefan Riedl

المصدر: The Journal of clinical endocrinology and metabolism. 89(9)

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biology, Osteochondrodysplasias, Biochemistry, Endocrinology, Sex Factors, Short Stature Homeobox Protein, Mesomelic short stature, Internal medicine, medicine, Prevalence, Humans, Child, Léri–Weill dyschondrosteosis, Growth Disorders, Retrospective Studies, Homeodomain Proteins, Langer mesomelic dysplasia, Biochemistry (medical), Wrist, medicine.disease, Osteochondrodysplasia, Body Height, Madelung's deformity, Growth Hormone, Mutation, Menarche, Female, Haploinsufficiency, Transcription Factors

الوصف: SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists. The aim of this study was to determine the prevalence of SHOX mutations in LWD and to investigate the degree of growth failure in relation to mutation, sex, age of menarche, and wrist deformity. We studied 20 families with 24 affected children (18 females) and nine affected parents (seven females). All patients presented with bilateral Madelung deformity and shortening of the limbs. Height, sitting height, parental height, birth length, age of menarche, and presence of minor abnormalities were recorded. The degree of Madelung deformity was estimated by analysis of left hand radiographs. Microsatellite typing of the SHOX locus was used for detection of SHOX deletions and PCR direct sequencing for the detection of SHOX point mutations. In 14 of 20 families (70%), SHOX mutations were detected, with seven deletions (four de novo) and seven point mutations (one de novo). The latter included five missense mutations of the SHOX homeodomain, one nonsense mutation (E102X) truncating the whole homeodomain, and one point mutation (X293R) causing a C-terminal elongation of SHOX. Median age of the affected children was 13.4 yr (range, 6.1-18.3), mean height sd score (SDS) (sd in parentheses) was -2.85 (1.04), and mean sitting height/height ratio SDS was +3.06 (1.09). Mean birth length SDS was -0.59 (1.26). Growth failure occurred before school age. Height change during a median follow-up of 7.4 yr (range, 2.3-11.3) was insignificant with a mean change in height SDS of -0.10 (0.52). Mean height SDS of affected parents was -2.70 (0.85) vs. -0.91 (1.10) in unaffected parents. Height loss due to LWD was estimated calculating delta height defined by actual height SDS minus target height SDS of the unaffected parent(s). In the children, mean delta height SDS was -2.16 (1.06), the loss being greater in girls at -2.30 (1.02) than in boys at -1.72 (1.09) (P = 0.32). In patients with SHOX deletions, it was -2.14 (1.15) vs. -1.67 (0.73) for the SHOX point mutation group (P = 0.38). Mean delta height SDS was -2.26 (0.68) for the girls with early menarche (12 yr) vs. -2.08 (0.91) for the other postmenarcheal girls (P = 0.72). Height loss in patients with radiologically severe wrist deformities in comparison with those having milder radiological signs was -2.81 (1.01) vs. -1.70 (1.04) (P = 0.03). GH treatment in five children during a median duration of 3.4 yr (range, 1.5-9.8 yr) with a median dosage of 0.23 mg/kg.wk (range, 0.14-0.25) resulted in a mean height SDS gain of +0.82 (0.34). In conclusion, SHOX defects were the main cause of LWD. Growth failure occurred during the first years of life with a mean height loss of 2.16 SDS whereas pubertal growth may only be mildly or not affected. Children with a severe degree of wrist deformity were significantly shorter than those with mild deformities. No statistically significant effects of type of mutation, age of menarche, or sex on height were observed. The effect of GH therapy varied between individuals and needs to be examined in controlled studies.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c689fb7dbbf695f5fa1117a4d5b2b8Test
https://pubmed.ncbi.nlm.nih.gov/15356038Test

المؤلفون: Klaus Schmitt, Gabriele Häusler, Peter Blümel, Herwig Frisch, Ingrid Vlasak, Eva Bergendi, Martin Borkenstein, Gabriela Kronberger, György Fekete, Josef Glatzl, Magda Kadrnka-Lovrencic, Engelbert Plöchl, Monika Hagemann, Olaf Rittinger

المصدر: Klinische Padiatrie. 211(1)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Gonad, Adolescent, Gonadal tumors, Gonadoblastoma, Turner Syndrome, Biology, Y chromosome, Bioinformatics, law.invention, law, Risk Factors, Y Chromosome, Turner syndrome, medicine, Humans, Genetic Testing, Risk factor, Child, Polymerase chain reaction, Ovarian Neoplasms, Mosaicism, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female

الوصف: The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specificity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-specific sequences was shown to be a valuable tool in the clinical management of Turner patients.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace2365de498afca3e3837248c016641Test
https://pubmed.ncbi.nlm.nih.gov/10067216Test