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Mosaic Monosomy X

Mosaic Turner Syndrome


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]
  • We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X.[e-kjgm.org]
  • Roland et al. (1990) showed it is possible to obtain a karyotype of 45,X though the postnatal follow-up shows a mosaic genotype of 45,X/46,X,dic(Y)(q11) [meaning there is a part of the Y chromosome present] in 50% of blood cells.[mosaicism.bcchr.ca]
  • However, the classic genetic change is not present in all cases.[radiopaedia.org]
Hyperpigmentation
  • 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]

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

  • 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]
  • It is the authoritative guide to miscarriage treatment and success of your next pregnancy.[books.google.ro]
  • Part V covers treatment and includes detailed descriptions of psychotherapy, behavior therapy, pharmacological interventions, genetic counseling, and gene therapy.[books.google.ro]
  • 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]
  • DISCUSSION Because the phenotypic expression and clinical management of patients with UTS is dependent upon the karyotype result, identification of sex chromosome mosaicism plays a key role in prognosis and treatment.[nature.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]

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 have[humpath.com]
Sex distribution
Age distribution

Prevention

  • ., 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]

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