All Stories

  1. 45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype
  2. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
  3. New international Turner syndrome guideline: a multi-society feat
  4. Evaluation of ICD-10 algorithms to identify hypopituitary patients in the Danish National Patient Registry
  5. Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome
  6. Assessment of Attention Deficits in Adolescent Offspring Exposed to Maternal Type 1 Diabetes
  7. Hormone replacement therapy in Turner syndrome is important—a new meta-analysis points at many shortcomings in the available literature
  8. Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases
  9. Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development
  10. Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial
  11. Coronary artery anomalies in Turner Syndrome
  12. Widespread DNA hypomethylation and differential gene expression in Turner syndrome
  13. Aortic events in a nationwide Marfan syndrome cohort
  14. A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome
  15. Multimodality cardiac imaging in Turner syndrome
  16. Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation
  17. Corrigendum to “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” [NeuroImage:Clin 4 (2014) 1–9]
  18. Prevalence, incidence, and age at diagnosis in Marfan Syndrome
  19. Broca's region and Visual Word Form Area activation differ during a predictive Stroop task
  20. Klinefelter Syndrome and medical treatment: hypogonadism and beyond
  21. Testicular Sperm Sampling by Subcapsular Orchiectomy in Klinefelter Patients: A New Simplified Treatment Approach
  22. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome
  23. Growth hormone replacement does not increase mortality in patients with childhood-onset growth hormone deficiency
  24. Response
  25. Neuropsychology and socioeconomic aspects of Klinefelter syndrome
  26. Increased metabolic risk in adolescent offspring of mothers with type 1 diabetes: the EPICOM study
  27. Difficulties in diagnosing Marfan syndrome using current FBN1 databases
  28. Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism
  29. Low myocardial glucose uptake in Turner syndrome is unaffected by growth hormone: a randomized, placebo-controlled FDG-PET study
  30. Short QTc Interval in Males with Klinefelter Syndrome-Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy
  31. An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene
  32. Socioeconomic Factors Do Not but GH Treatment Does Affect Mortality in Adult-Onset Growth Hormone Deficiency
  33. Bone Geometry, Volumetric Density, Microarchitecture, and Estimated Bone Strength Assessed by HR‐pQCT in Klinefelter Syndrome
  34. OR1-1: GH treatment modulates mortality in adult onset GH deficiency and a discordant socio-economic status is apparent
  35. Osteoprotegerin in Turner syndrome - relationship to aortic diameter
  36. Acute and Short-term Chronic Testosterone Fluctuation Effects on Glucose Homeostasis, Insulin Sensitivity, and Adiponectin: A Randomized, Double-Blind, Placebo-Controlled, Crossover Study
  37. Neuropsychology and brain morphology in Klinefelter syndrome – the impact of genetics
  38. Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic–pituitary–gonadal axis
  39. Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile
  40. Turner Syndrome
  41. Sex Chromosome Abnormalities
  42. The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids
  43. Testicular sperm sampling by subcapsular orchiectomy in Klinefelter patients: a new treatment approach
  44. Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations
  45. Poor socio-economic status in 47,XXX – An unexpected effect of an extra X chromosome
  46. Independent Effects of Testosterone on Lipid Oxidation and VLDL-TG Production
  47. Transition of females with Turner syndrome
  48. The prevalence, incidence and diagnostic delay in 46,XY females; a Danish national cohort study
  49. 21-hydroxylase and interferon omega autoantibodies in Turner syndrome
  50. Long QT interval in Turner syndrome: a high prevalence of LQTS gene mutations
  51. Perturbed sympatho-vagal balance in Turner syndrome: relation to phenotype and aortic dilation
  52. Sex-Chromosome Abnormalities
  53. Klinefelter Syndrome—A Clinical Update
  54. Prediction of aortic dilation in Turner syndrome - enhancing the use of serial cardiovascular magnetic resonance
  55. Carotid intima‐media thickness is increased in Turner syndrome: multifactorial pathogenesis depending on age, blood pressure, cholesterol and oestrogen treatment
  56. Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
  57. Mortality and socioeconomic status in adults with childhood onset GH deficiency (GHD) is highly dependent on the primary cause of GHD
  58. Socio‐economic factors affect mortality in 47,XYY syndrome—A comparison with the background population and Klinefelter syndrome
  59. Estradiol acutely inhibits whole body lipid oxidation and attenuates lipolysis in subcutaneous adipose tissue: a randomized, placebo-controlled study in postmenopausal women
  60. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: A cross‐sectional study using high‐resolution–pQCT
  61. Left Ventricular Hypertrophy in Turner Syndrome: A Prospective Echocardiographic Study
  62. Socioeconomic parameters and mortality in Turner syndrome
  63. Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome
  64. Mortality in Cushing's syndrome: A systematic review and meta-analysis
  65. Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study
  66. Sex hormone replacement in Turner syndrome
  67. Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation
  68. Socioeconomic Trajectories Affect Mortality in Klinefelter Syndrome
  69. Long-term DHEA substitution in female adrenocortical failure, body composition, muscle function, and bone metabolism: a randomized trial
  70. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging
  71. Morbidity and mortality in Klinefelter syndrome (47,XXY)
  72. Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome
  73. Delayed β-cell response and glucose intolerance in young women with Turner syndrome
  74. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study
  75. Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption
  76. Serum Levels of Anti-Müllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients
  77. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study
  78. Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone
  79. Acute estrogen exposure does not affect basal very low-density lipoprotein-triglyceride production or oxidation in postmenopausal women
  80. Diagnosis and mortality in 47,XYY persons: a registry study
  81. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
  82. Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning
  83. Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging
  84. Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition
  85. Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome
  86. Discontinuation of hormone replacement therapy in young GH-treated hypopituitary women increases liver enzymes
  87. Repeated Spontaneous Pregnancies in 45,X Turner Syndrome
  88. Mortality and incidence in women with 47,XXX and variants
  89. Aortic Dimensions in Girls and Young Women with Turner Syndrome: A Magnetic Resonance Imaging Study
  90. Dilation of ascending aorta in Turner syndrome - short-term follow-up
  91. Hypothyroidism Secondary to Hypothalamic-Pituitary Dysfunction May Be Part of the Phenotype in Klinefelter Syndrome: A Case-Control Study
  92. Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome
  93. Increased prevalence of autoimmunity in Turner syndrome – influence of age
  94. Ambulatory Arterial Stiffness Index in Turner Syndrome: The Impact of Sex Hormone Replacement Therapy
  95. Left ventricular dysfunction in Klinefelter syndrome is associated to insulin resistance, abdominal adiposity and hypogonadism
  96. Morbidity and GH deficiency: a nationwide study.
  97. Epidemiology of Turner syndrome
  98. Turner syndrome and clinical treatment
  99. Glycemia, Lipidemia and Systolic Left Ventricular Function Evaluated by Myocardial Strain Rate: A Tissue Doppler Echocardiographic Study
  100. P2.10 AMBULATORY ARTERIAL STIFFNESS INDEX IN TURNER SYNDROME: THE IMPACT OF SEX HORMONE REPLACEMENT
  101. Continuous Subcutaneous Glucose Monitoring Shows a Close Correlation between Mean Glucose and Time Spent in Hyperglycemia and Hemoglobin A1c
  102. Effects of Cortisol on Carbohydrate, Lipid, and Protein Metabolism: Studies of Acute Cortisol Withdrawal in Adrenocortical Failure
  103. Disproportional geometry of the proximal femur in patients with Turner syndrome: a cross‐sectional study
  104. Protein metabolism in Turner syndrome and the impact of hormone replacement therapy
  105. Mortality and GH deficiency: a nationwide study
  106. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy
  107. Klinefelter syndrome in clinical practice
  108. Dehydroepiandrosterone substitution in female adrenal failure: no impact on endothelial function and cardiovascular parameters despite normalization of androgen status
  109. Mortality and Reduced Growth Hormone Secretion
  110. OR05-5 MORBIDITY IN GROWTH HORMONE DEFICIENCY — A NATIONWIDE STUDY
  111. Preface
  112. Diabetes and lipid disorders
  113. Hypertension and ischemic cardiovascular disease in Turner syndrome
  114. The GH–IGF–IGFBP axis is changed in Turner syndrome: Partial normalization by HRT
  115. Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome
  116. Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules
  117. The epidemiology of Turner syndrome
  118. Clinical and epidemiological description of aortic dissection in Turner's syndrome
  119. Morbidity in Klinefelter Syndrome: A Danish Register Study Based on Hospital Discharge Diagnoses
  120. Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome
  121. Adenosine concentration in the porcine coronary artery wall and A2A receptor involvement in hypoxia‐induced vasodilatation
  122. Clinical practice in Turner syndrome
  123. Myocardial injury with biomarker elevation in diabetic ketoacidosis
  124. Fulminant lactic acidosis in two patients with Type 2 diabetes treated with metformin
  125. Continuous Glucose Monitoring in Interstitial Subcutaneous Adipose Tissue and Skeletal Muscle Reflects Excursions in Cerebral Cortex
  126. Discontinuation of estrogen replacement therapy in GH-treated hypopituitary women alters androgen status and IGF-I
  127. Effect of growth hormone and 17β‐oestradiol treatment on metabolism and body composition in girls with Turner syndrome
  128. Epidemiological, endocrine and metabolic features in Turner syndrome
  129. Turner Syndrome in Adulthood
  130. Very short term dehydroepiandrosterone treatment in female adrenal failure: impact on carbohydrate, lipid and protein metabolism
  131. Circadian variation of holo-transcobalamin (holo-TC) and related markers
  132. Epidemiological, endocrine and metabolic features in Turner syndrome
  133. Increased Mortality in Klinefelter Syndrome
  134. Insulin increases glycolysis without further vasodilation in porcine coronary arteries exposed to hypoxia
  135. The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome
  136. Dehydroepiandrosterone supplementation in women with adrenal failure: impact on twenty‐four hour GH secretion and IGF‐related parameters
  137. Elevated Levels of Mannan-Binding Lectin in Patients with Type 1 Diabetes
  138. Increased fracture rates in Turner's syndrome: a nationwide questionnaire survey
  139. Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study
  140. Short-Term Growth Hormone Treatment in Girls With Turner Syndrome Decreases Fat Mass and Insulin Sensitivity: A Randomized, Double-Blind, Placebo-Controlled, Crossover Study
  141. Elevated Regional Lipolysis in Hyperthyroidism
  142. Dose Dependency of the Pharmacokinetics and Acute Lipolytic Actions of Growth Hormone
  143. Inhibin A and B in adolescents and young adults with Turner's syndrome and no sign of spontaneous puberty
  144. Preferential Stimulation of Abdominal Subcutaneous Lipolysis after Prednisolone Exposure in Humans
  145. Circulating Levels of Ghrelin and GLP-1 are Inversely Related During Glucose Ingestion
  146. Marked Disproportionality in Bone Size and Mineral, and Distinct Abnormalities in Bone Markers and Calcitropic Hormones in Adult Turner Syndrome: A Cross-Sectional Study
  147. Measurement of interstitial lactate during hypoxia‐induced dilatation in isolated pressurised porcine coronary arteries
  148. Mild Noonan phenotype associated with coloboma of the iris and choroid
  149. Turner Syndrome and the Heart
  150. Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome
  151. Aspects of the treatment of Turner syndrome
  152. Muscle Fiber Composition and Capillary Density in Turner Syndrome
  153. Physiological Levels of Glucagon Do Not Influence Lipolysis in Abdominal Adipose Tissue as Assessed by Microdialysis1
  154. Physiological Levels of Glucagon Do Not Influence Lipolysis in Abdominal Adipose Tissue as Assessed by Microdialysis
  155. Morning versus evening administration of estradiol to girls with Turner syndrome receiving growth hormone: impact on growth hormone and metabolism. A randomized placebo‐controlled crossover study
  156. Morning versus evening administration of estradiol to girls with Turner syndrome receiving growth hormone: impact on growth hormone and metabolism. A randomized placebo-controlled crossover study
  157. Long-Term Effects of Continuous Subcutaneous InfusionVersusDaily Subcutaneous Injections of Growth Hormone (GH) on the Insulin-Like Growth Factor System, Insulin Sensitivity, Body Composition, and Bone and Lipoprotein Metabolism in GH-Deficient Adults1
  158. Interstitial lactate and hypoxic dilatation of coronary arteries Ole Frobert, Erich O. Mikkelsen, Jens P. Bagger, Claus H. Gravholt. Dpt. of Cardiology B, Skejby University Hospital, Aarhus, Denmark
  159. Medical Problems of Adult Turner’s Syndrome
  160. Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study1
  161. Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study
  162. Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures
  163. Assessment of insulin secretion in relatives of patients with type 2 (non-insulin-dependent) diabetes mellitus: Evidence of early β-cell dysfunction
  164. Lp(a) and lipids in adult Turner’s syndrome: impact of treatment with 17β-estradiol and norethisterone
  165. No seasonal variation of insulin sensitivity and glucose effectiveness in men
  166. Twenty-four-hour insulin secretion rates, circulating concentrations of fuel substrates and gut incretin hormones in healthy offspring of Type II (non-insulin-dependent) diabetic parents: evidence of several aberrations
  167. Effects of the amylin analogue pramlintide on hepatic glucagon responses and intermediary metabolism in Type 1 diabetic subjects
  168. The amylin analog pramlintide improves glycemic control and reduces postprandial glucagon concentrations in patients with type 1 diabetes mellitus
  169. Reduced androgen levels in adult Turner syndrome: influence of female sex steroids and growth hormone status
  170. Increased disorderliness and decreased mass and daily rate of endogenous growth hormone secretion in adult turner syndrome: the impact of body composition, maximal oxygen uptake and treatment with sex hormones
  171. Insulin like growth factor I (IGF-1) administration induces fluid and sodium retention in healthy adults
  172. Determinants of IGF-I in adult turner syndrome: The influence of sex hormones and GH
  173. The effect of a physiological growth hormone pulse on lipolysis in abdominal and femoral adipose tissue assessed by microdialysis
  174. Glucose Metabolism, Lipid Metabolism, and Cardiovascular Risk Factors in Adult Turner's Syndrome: The impact of sex hormone replacement
  175. Increased levels but preserved diurnal variation of serum leptin in GH-deficient patients: lack of impact of different modes of GH administration
  176. Morbidity in Turner Syndrome
  177. Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome
  178. Evidence of an Increased Number of Type IIb Muscle Fibers in Insulin-Resistant First-Degree Relatives of Patients with NIDDM
  179. Evidence of an increased number of type IIb muscle fibers in insulin-resistant first-degree relatives of patients with NIDDM
  180. Body Composition and Physical Fitness Are Major Determinants of the Growth Hormone-Insulin-Like Growth Factor Axis Aberrations in Adult Turner’s Syndrome, with Important Modulations by Treatment with 17β-Estradiol1
  181. Body Composition and Physical Fitness Are Major Determinants of the Growth Hormone-Insulin-Like Growth Factor Axis Aberrations in Adult Turner's Syndrome, with Important Modulations by Treatment with 17 -Estradiol
  182. A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin
  183. Effects of Amylin and the Amylin Agonist Pramlintide on Glucose Metabolism
  184. Authors' reply
  185. Author's reply
  186. Prenatal and postnatal prevalence of Turner's syndrome: a registry study
  187. Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically
  188. Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group children
  189. Fluorescence in situ hybridization reveals a break in the ?-satellite DNA of chromosome 1 in a family with a balanced whole-arm translocation
  190. Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization
  191. A 20-year-old male with partial trisomy 18q —as diagnosed by in situ hybridization
  192. Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth