Turner syndrome history and symptoms

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

Overview

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.

Natural History and Symptoms

• 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.
  • 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.

System	Clinical features and Complications
Gonadal	Rudimentary uterus Streaked ovaries Primary or secondary amenorrhea Infertility Chronic estrogen deficiency and Androgen deficiency Gonadoblastoma Dysgerminoma Dyspareunia
Endocrine	Type 1 diabetes mellitus Type 2 diabetes mellitus Autoimmune thyroiditis – Hashimotos thyroiditis Short stature
Gastrointestinal and hepatic	Celiac disease Inflammatory bowel disease Feeding problems Failure to thrive Regenerative nodular hyperplasia Multiple focal nodular hyperplasia Non alcoholic liver disease
Ophthalmology	Red-green color blindness Myopia Prominent epicanthal folds Bilateral epicanthus Strabismus Ptosis Amblyopia Hypermetropia Cataract Nystagmus
Otorhinolayngology	Increased risk of otitis media Conductive hearing loss Sensorineural hearing loss External ear deformities Small eustachian tube Palatal dysfunction
Neck	Pterygium colli Low posterior hair line Loose skin on the nape of newborns
Chest	Wide shield shaped chest with broadly spaced inverted nipples
Skin, hair and nail	Lymphedema of the hands and feet Toenail cellulitis Vitiligo Alopecia Nail hypoplasia Psoriasis Pigmented melanocytic nevi Hyperconvex nails Premature wrinkling of facial skin Keloid formation
Skeletal	Genu valgum Cubitus valgus deformity Congenital hip dysplasia Short 4th metacarpal Decreased bone mineral content Increased risk of fractures secondary to decreased bone mineral density Scoliosis Kyphosis Juvenile idiopathic arthritis
Cardiac	Coarctation of aorta Ventricular septal defect Bicuspid aortic valve Aortic dissection Aortal dilation Aortic aneurysm Ischemic heart disease Atherosclerosis Elongated transverse aortic arch Pulmonary venous anomalies Hypoplastic left heart syndrome Infective endocarditis Persistent left superior vena cava Patent ductus arteriosus
Renal	Horse shoe shaped kidney Duplicate ureter Renal hypoplasia Renal aplasia
Psychological	Visuo spatial deficits Hyperactivity Poor facial recognition Poor self-esteem

• 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.
• 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.

References

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