Turner syndrome history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Natural history of the patient would depend on the age of the diagnoses and what complications have developed by the time the patients presents to the physician. Congenital lymphedema may take several years to decrease. The patient experiences low self esteem due to their short stature, decreased visual spatial functioning, hyperactivity, poor facial recognition and preference for social isolation. As soon as the patient is capable of understanding, counseling regaridng the risks and benefits of Turner syndrome should be explained.

• The natural history of Turner syndrome patients depends on the age of diagnosis .
  • The age of diagnosis would in turn determine when they present to the physician.
• A newborn would typically present with lymphedema of the hands and feet, pterygium colli (webbed neck), low posterior hairline, cubitus valgus, Madelung deformity and cyanosis secondary to congenital heart disease. ^[3]
  • A complete physical examination is necessary.
  • Key history findings such as poor feeding (secondary to weak sucking reflexes), irritability, lower extremity coldness (claudication) and diaphoresis should point to coarctation of aorta or heart failure.
• Children around 2 years of age begin to dip below the 5th percentile and exhibit weight loss due to feeding difficulties.
  • This progresses to complaints of hearing loss, behavioral difficulties, low self esteem due to short stature and obesity. “Turner Syndrome – StatPearls – NCBI Bookshelf”.
  • Visuospatial deficits would affect the child’s performance in school.
• As soon as the patient is capable of understanding, the physician should actively counsel explaining the risks, benefits and process of transitioning to adult care. ^[4]

• Madelung deformity is secondary to SHOX haploinsufficiency. It is the chondrodysplasia of the distal radius epiphysis, typical of Leri Weill syndrome.
• Patients have normal global intellectual functioning.
• Studies have shown that Turner syndrome patient exhibit superior language and comprehension skills when compared to individuals their age. They understand less common words better and sometimes have better receptive vocabulary skills. ^[3]
• Test of mental rotation, object assembly and facial recognition show significant deficits.
• Non verbal skills are poor.
• Visuospatial skills would affect right left orientation.
• Executive function skill deficits would include impairments in planning, organization, attention, concentration, processing speed and problem solving ability.
• Patients are impulsive and hyperactive. They have sleepless night and have problems maintaining relationships. They eventually become socially isolated. This affects their self-esteem.
• Associated conditions include autism, attention deficit hyperactive disorder, anxiety and depression.^[4]

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