Turner Syndrome – 115 Symptoms and Signs and Prognosis

What is Turner Syndrome

Turner syndrome is a rare genetic disorder which is chromosomal.

This syndrome usually affects female gender.

The characteristics of Turner syndrome include partial or total loss of one of the secondary sex chromosomes, which is called as monosomy. 

Synonyms

  • 45 X syndrome
  • Bonnevie-Ullrich syndrome
  • Monosomy X
  • Ullrich-Turner syndrome
  • 46,XX syndrome

Symptoms and Signs of Turner Syndrome

Very Common Symptoms and Signs (80%-98%)

  • Abnormal morphology of forearm bone 
  • Abnormality of the ovary 
  • Aplasia/Hypoplasia of the nipples 
  • Cubitus valgus 
  • Delayed puberty 
  • Delayed skeletal maturation 
  • Enlarged thorax 
  • Female infertility 
  • Growth delay 
  • High urinary gonadotropins (primary hypogonadism) 
  • Increased circulating gonadotropin level 
  • Increased upper to lower segment ratio 
  • Intrauterine growth retardation 
  • Osteopenia 
  • Osteoporosis 
  • Postnatal growth retardation 
  • Precocious menopause 
  • Premature ovarian insufficiency 
  • Short neck 
  • Short stature 
  • Short sternum 
  • Wide intermamillary distance

Common Symptoms and Signs (30%-79%)

  • Abnormal dermatoglyphics 
  • Anxiety 
  • Behavioral abnormality 
  • Broad neck 
  • Dermatoglyphic ridges abnormal 
  • Dilatation of the aortic arch 
  • Elevated hepatic transaminase 
  • Enlargement of the distal femoral epiphysis 
  • Failure to thrive in infancy 
  • Genu valgum 
  • Glucose intolerance 
  • Hashimoto thyroiditis 
  • Hearing impairment 
  • Hepatic steatosis 
  • High palate 
  • High, narrow palate 
  • Hypermobility of toe joints 
  • Hypertension 
  • Hypoplastic toenails 
  • Impaired use of nonverbal behaviors 
  • Irregular proximal tibial epiphyses 
  • Kyphosis 
  • Low posterior hairline 
  • Low-set ears 
  • Micrognathia 
  • Neck pterygia 
  • Obesity 
  • Primary amenorrhea 
  • Recurrent otitis media 
  • Retrognathia 
  • Secondary amenorrhea 
  • Shield chest 
  • Short 4th metacarpal 
  • Short 5th metacarpal 
  • Specific learning disability 
  • Thickened nuchal skin fold 
  • Webbed neck

Occasional Symptoms and Signs (5%-29%)

  • Abnormality of the dentition 
  • Abnormality of the fingernails
  • Alopecia 
  • Aplasia/Hypoplasia of the mandible 
  • Atrial septal defect 
  • Attention deficit hyperactivity disorder 
  • Atypical scarring of skin 
  • Autoimmunity 
  • Bicuspid aortic valve 
  • Celiac disease 
  • Cholestatic liver disease 
  • Coarctation of aorta 
  • Combined hyperlipidemia 
  • Cystic hygroma 
  • Delayed social development 
  • Depressivity 
  • Ectopic kidney 
  • Epicanthus 
  • External ear malformation 
  • Hepatic fibrosis 
  • Hip dysplasia 
  • Horseshoe kidney 
  • Hyperconvex fingernails 
  • Hyperinsulinemia 
  • Inverted nipples 
  • Lymphedema 
  • Madelung deformity 
  • Melanocytic nevus 
  • Myocardial infarction 
  • Myopia 
  • Nevus 
  • Numerous congenital melanocytic nevi 
  • Pectus excavatum 
  • Pes planus 
  • Prolonged QT interval 
  • Ptosis 
  • Reduced bone mineral density 
  • Scoliosis 
  • Short toe 
  • Splayed toes 
  • Strabismus 
  • Thyroiditis 
  • Type II diabetes mellitus 
  • Vitiligo 

Rare Symptoms and Signs (4%-1%)

  • Aortic dissection 
  • Arterial dissection 
  • Biliary cirrhosis 
  • Cirrhosis 
  • Gastrointestinal angiodysplasia 
  • Gastrointestinal inflammation 
  • Gonadoblastoma 
  • Hypoplastic left heart 
  • Inflammation of the large intestine 
  • Melanoma 
  • Neurodevelopmental delay 
  • Renal hypoplasia/aplasia 

Prognosis of Turner Syndrome

  • Prognosis is good if there is no evidence of cardiac disease or deafness.
  • If puberty is not induced too late, there are high chances of better Quality of life and social integration.
  • Learning difficulties might develop due to Deafness.
  • Sterility might have a negative effect on quality of life, especially during adult life.
  • Also, the prognosis largely depends on the presence of certain conditions such as arterial hypertension, heart disease, obesity and also osteoporosis.
  • Long-term follow-up is mandatory if there are these associated conditions.
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