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Current best practice in the management of Turner syndrome
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We revie…
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Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up
Turner syndrome (TS) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. We describe long-term outcomes in a large cohort of patients with TS
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Turner syndrome: mechanisms and management
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty , ovarian dysgenesis, hypergonadotropic hypogonadism, infertility , congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporo…
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Intrauterine Growth Restriction: New Insight from the Metabolomic Approach
Recognizing intrauterine growth restriction (IUGR) is a matter of great concern because this condition can significantly afect the newborn’s short- and long-term health. Ever since the first suggestion of the “thrifty phenotype hypothesis” in the last decade of the 20th century, a number of studies have confirmed the association between low birth weight and cardiometabolic syndrome later…
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Metformin in 2019
Metformin is the first-line pharmacologic treatment for type 2 diabetes and the most commonly prescribed drug for this condition worldwide, either alone or in combination with insulin or other glucose- lowering therapies
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Canagliflozin and Renal Outcomes in Type 2 Diabetes and Nephropathy
Type 2 diabetes mellitus is the leading cause of kidney failure worldwide, but few effective long-term treatments are available. In cardiovascular trials of inhibitors of sodium– glucose cotransporter 2 (SGLT2), exploratory results have suggested that such drugs may improve renal outcomes in patients with type 2 diabetes.
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Subclinical Hypothyroidism
A 71-year-old woman reports fatigue and mild depression. She has hypertension and had a myocardial infarction 4 years ago. She has a family history of autoimmune thyroid disease. The physical examination is unremarkable. No thyroid enlargement is present. Laboratory results include normal levels of hemoglobin, creatinine, and calcium and a normal erythrocyte sedimentation rate. The thyrotro…
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Type 2 diabetes mellitus in children and adolescents
Type 2 diabetes mellitus is emerging as a new clinical problem within pediatric practice. Recent reports indicate an increasing prevalence of type 2 diabetes mellitus in children and adolescents around the world in all ethnicities, even if the prevalence of obesity is not increasing any more.
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Diagnosis and Classification of Diabetes Mellitus
Diabetes is a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both. The chronic hyperglycemia of diabetes is associated with long-term damage, dysfunction, and failure of different organs, especially the eyes, kidneys, nerves, heart, and blood vessels
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Personalized medicine in diabetes mellitus: current opportunities and future …
Diabetes mellitus affects approximately 382 million individuals worldwide and is a leading cause of morbidity and mortality. Over 40 and nearly 80 genetic loci influencing susceptibility to type 1 and type 2 diabetes, respectively, have been identified. Additionally, there is emerging evidence that some genetic variants help to predict response to treatment. Other variants confer apparent prote…
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