Presentation
Two years later she presented with sings of hypocorticisam (artralgia, hyperpigmentation, fatigue and hypotension) and low corisol level, but normal electrolyte level, hydrocortisone substitution was started. PTH was in referent range. [endocrine-abstracts.org]
However, the classic genetic change is not present in all cases. [radiopaedia.org]
Other health problems may also be present involving the heart or renal system (i.e., kidneys). Many problems affecting girls with Turner syndrome can be managed or corrected with appropriate medical treatment. [checkorphan.org]
During childhood, girls with Turner syndrome usually present with short stature. [3] In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. [emedicine.medscape.com]
Workup
See Workup for more detail. Management Patients with Turner syndrome require screening for commonly associated chronic diseases. [emedicine.medscape.com]
Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup to assess the structure and function of the heart. This will include an echocardiogram. [rarediseases.org]
Treatment
Pagina 295 - Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). [books.google.ro]
الصفحة 295 - Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). [books.google.com]
See Treatment and Medication for more detail. [emedicine.medscape.com]
Prognosis
Overall prognosis very variable is dependent on associated anomalies. [radiopaedia.org]
Prognosis Despite the high risk of miscarriage and stillbirth, the overall prognosis for a baby with Turner syndrome is far from dismal after birth. [verywell.com]
Prognosis The prognosis of Turner syndrome depends partly on whether the patient has monosomy X, a damaged second X chromosome, or mosaic Turner syndrome. [encyclopedia.com]
The long-term outlook ( prognosis ) for people with Turner syndrome is typically good. [rarediseases.info.nih.gov]
Prognosis Most children with Turner syndrome can live relatively normal lives. The prognosis for a person with Turner syndrome is dependent on the other associated conditions that may be present. [healthofchildren.com]
Etiology
Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. [readbyqxmd.com]
C 11 Etiology Turner syndrome is caused by a reduced complement of genes that are typically expressed from both X chromosomes in females. [aafp.org]
Epidemiology
General pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional monosomies > monosomy X Epidemiology 1/7000 newborns increased frequency in abortuses or women with short statute Synopsis no pubertal development 50% of cells [humpath.com]
[…] an embryo, which is carried by the Turner syndrome woman. [50] Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy. [53] Epidemiology [en.wikipedia.org]
Prevention
Hummel, M.D., a nationally recognized Fertility Specialist, states "A significant number of miscarriages can be prevented. A thorough fertility evaluation should give all couples options to maximize a full term pregnancy." [books.google.ro]
Prevention - Monosomy X There is no cure for Turner syndrome; however, many of the more serious problems can be treated. [checkorphan.org]
Prevention Since Turner syndrome is thought to be caused by a random genetic mutation rather than an inherited genetic defect, there is no way to prevent it. [encyclopedia.com]
Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. [books.google.es]
Early preventive care and treatment are also essential. [13] Growth hormone therapy In childhood, growth hormone therapy is standard to prevent short stature as an adult. [14, 15, 16] The ideal age for initiating treatment has not been established; taller [emedicine.medscape.com]