What Medical Problems Can Patients with Turner Syndrome Have?

Discussion Turner Syndrome (TS) is one of the most common genetic disorders in females. It was first described by Dr. Henry H. Turner in 1938. It affects 1 in 2000-2500 births and ~70,000 girls and women have TS in the United States. It is caused by the absence of all or part of the second X chromosome. The most common variation is 45X which affects about 50% of TS patients and usually has the most complications, but there are other variations. Phenotypes vary and therefore the age of diagnosis varies. Mean age of diagnosis unfortunately is 15 years. Diagnosis is made by chromosomal analysis. Haploinsufficiency of the SHOX gene is associated with short stature in Turner syndrome. Patient presentations depend on age and phenotype. Most (almost all) TS patients have short stature and primary ovarian failure, but patients can have a variety of medical problems. Patients need comprehensive management from a variety of specialists to address their medical and psychosocial needs throughout their lifetime. Recommendations for comprehensive management can be found in the To Learn More section below. Learning Point Medical problems that patients with Turner Syndrome can have include: *Short stature/growth retardation – almost 100% of patients Short stature occurs in almost all patients with an average of 8 in (20 cm) shorter than predicted mid-parental height. Final adult height has been dramatically improved with growth hormone treatment. Short stature or growth failure are ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

Related Links:

Authors: Park HJ, Shin KC, Yoou SK, Kang M, Gon Kim J, Jun Sung D, Yu W, Lee Y, Hea Kim S, Min Bae Y, Park SW Abstract Oxidative stress is associated with many cardiovascular diseases, such as hypertension and arteriosclerosis. Oxidative stress reportedly activates the L-type voltage-gated calcium channel (VDCCL) and elevates [Ca2+]i in many cells. However, how oxidative stress activates VDCCL under clinical setting and the consequence for arteries are unclear. Here, we examined the hypothesis that hydrogen peroxide (H2O2) regulates membrane potential (Em) by altering Na+ influx through cation channels, which conse...
Source: Free Radical Research - Category: Research Tags: Free Radic Res Source Type: research
In this report, we explore the value of the rate of short-term changes in MELD-Na as an independent predictor of mortality in patients with nonmetastatic HCC. Methods: We reviewed a cohort of patients diagnosed with nonmetastatic HCC at our institution between 2001 and 2011. We evaluated potential predictors of overall survival, including baseline MELD-Na and the change in MELD-Na over 90 days. We explored survival times of cohorts grouped by baseline MELD-Na and the change in MELD-Na. Results: 182 patients met eligibility criteria. With a median follow-up of 21 months for surviving patients, 110 deaths were observ...
Source: Canadian Journal of Gastroenterology - Category: Gastroenterology Tags: Can J Gastroenterol Hepatol Source Type: research
Conclusions: Chordoid glioma of the third ventricle is a very rare tumor that is difficult to diagnose on routine neuroimaging. Accurate diagnosis requires detailed analysis of neuroimaging and immunohistochemical studies using CD34 and TTF-1 staining. PMID: 30533273 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
Conclusion: In this study, we presented a unique approach to posterior fixation of an unstable cervicothoracic fracture in a patient with AS utilizing the lateral position and neural navigation under intraoperative physiological monitoring. PMID: 30533272 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
The aging process has functional consequences for older persons, such as degenerative processes of the pancreas resulting in diabetes mellitus. The increasing age of the population will eventually lead to incr...
Source: BMC Geriatrics - Category: Geriatrics Authors: Tags: Research Source Type: research
Conclusion: Exposure to excessive pre- and perinatal maternal stress was associated with a decrease in neonatal hair GCs, while elevated stress-scores around birth were associated with increased maternal hair GCs and elevated stress-scores earlier in gestation were not associated with maternal hair GCs pp. Further studies are needed to test associations with infant neurodevelopment.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
Conclusions: The ptWBS diagnostic role was clinically relevant for the therapeutic strategies of our patients only in 1.1% of the cases. The cost-effectiveness of performing RRA and ptWBS in all LR and IR patients to find 1 –2% of the cases with distant metastases remains controversial.Eur Thyroid J
Source: European Thyroid Journal - Category: Endocrinology Source Type: research
This study aimed to evaluate the impact of seat belt use and BMI on outcomes in adult trauma patients.
Source: The American Journal of Emergency Medicine - Category: Emergency Medicine Authors: Source Type: research
lincRNA‑p21 inhibits the progression of non‑small cell lung cancer via targeting miR‑17‑5p. Oncol Rep. 2018 Nov 30;: Authors: Ao X, Jiang M, Zhou J, Liang H, Xia H, Chen G Abstract Non‑small‑cell lung cancer (NSCLC) is well established as one of the major subtypes of human lung cancer. NSCLC is characterized by a high incidence rate and poor patient prognosis. Previous studies have identified that long intergenic non-coding RNA (lincRNA) serves a key role in the development of tumor and malignant metastasis. However, the majority of the underlying mechanisms for lincRNA deregulation in vari...
Source: Oncology Reports - Category: Cancer & Oncology Tags: Oncol Rep Source Type: research
Publication date: Available online 12 December 2018Source: JACC: Heart FailureAuthor(s): Andrew Xanthopoulos, Randall C. Starling, Takeshi Kitai, Filippos TriposkiadisAbstractHeart failure (HF) and liver disease often co-exist. This is because systemic disorders and diseases affect both organs (alcohol abuse, drugs, inflammation, autoimmunity, infections) and because of complex cardiohepatic interactions. The latter, which are the focus of this review, include the development of acute cardiogenic liver injury and congestive hepatopathy in HF as well as cardiac dysfunction and failure in the setting of liver cirrhosis, nona...
Source: JACC: Heart Failure - Category: Cardiology Source Type: research
More News: ADHD | Anxiety | Back Curves | Celiac Disease | Child Development | Children | Classrooms | Coeliac Disease | Databases & Libraries | Diabetes | Eating Disorders & Weight Management | Education | Endocrinology | Gastroenterology | Genetics | Girls | Health | Hormones | Hospital Management | Hospitals | Hyperactivity | Hypertension | Hypothyroidism | Infertility | Internet | Klinefelter's Syndrome | Learning | Liver | Liver Disease | Lymphedema | Men | Obesity | Opthalmology | Orthopaedics | Osteoporosis | Otitis | Otitis Media | Ovaries | Pediatrics | Pregnancy | Primary Care | Psychiatry | Psychology | Reproduction Medicine | Scoliosis | Strabismus (squint) | Study | Teachers | Thyroid | Turner Syndrome | Ultrasound | Universities & Medical Training | Urinary Tract Infections | Urology & Nephrology | Women