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]

• Fishing

  None of the patients studied thus far with FISH have exhibited a Y-chromosome cell population. [mayoclinic.pure.elsevier.com]

  The FISH results for 12 of the 19 cases were uniformly monosomy X. Table 2 Interphase FISH analysis results for 19 patients with a 45,X G-banded karyotype a Fig. 1 a, FISH using an X centromere probe (DXZ1). [nature.com]

  Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. [molecularcytogenetics.biomedcentral.com]

  These can be identified by chromosomal analysis and molecular cytogenetic techniques such as Fluorescent in Situ Hybridization (FISH) and Microarray, which have enormously expanded in recent years. [books.google.com]

• Weakness

  Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis). Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. [mayoclinic.org]

  Osteoporosis —Women are more likely to have weak or thin bones due to a deficiency of estrogen. This may result in curvature of the spine, height loss and an increased chance of fractures. [clevelandclinic.org]

• Prognathism

  " gait Open mouth and seemingly inappropriate laughter No language development Hypopigmentation Smith-Magenis syndrome Type of abnormality: deletion Critical Region: 17p11.2 Mental retardation Brachycephaly Low-set, malformed ears Broad nasal bridge Prognathism [alpfmedical.info]

• Short Arm

  arm of chromosome 4 Wolff-Hirschorn syndrome Q93.4 Deletion of short arm of chromosome 5 Cri-du-chat syndrome Q93.5 Other deletions of part of a chromosome Angelman syndrome Q93.6 Deletions seen only at prometaphase Q93.7 Deletions with other complex [apps.who.int]

  Some affected girls have one normal X and one long-arm isochromosome formed by the loss of short arms and development of a chromosome consisting of two long arms of the X chromosome. [merckmanuals.com]

  arm of the X chromosome (Xp deletion). [emedicine.medscape.com]

  Isochromosomes (i) are structurally abnormal chromosomes comprised of two identical arms: either two short arms are two long arms. [alpfmedical.info]

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]

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]

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]

See Treatment and Medication for more detail. [emedicine.medscape.com]

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]

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]

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]

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]