Turner Syndrome

Background

• Turner syndrome is a genetic syndrome characterized by short stature, absent or delayed puberty, infertility, cardiac malformations, renal abnormalities, learning difficulties, skeletal abnormalities, and osteoporosis.
• Caused by a lack of 1 sex chromosome in a phenotypic female.

Evaluation

• Diagnosis of Turner syndrome should be considered in a female with slow growth, short stature, delayed or absent puberty, learning difficulties, primary amenorrhea, infertility, or multiple miscarriages.
• Clinical manifestations suggestive of Turner syndrome include
  • short stature
  • lymphedema, especially of the hands and feet
  • absent pubertal signs
  • webbed neck
  • low posterior hairline
  • broad, flat chest with wide-spaced nipples
  • premature ovarian failure or ovarian hypofunction
  • coarctation of the aorta or aortic valve abnormalities
• Diagnosis is confirmed by karyotype demonstrating a partial or complete absence of 1 X chromosome.
• Skin biopsy for mosaicism can be performed if the karyotype is normal but still clinically suspected.
• Echocardiography and renal ultrasound should be performed upon diagnosis to assess for associated abnormalities.

Management

• Growth hormone, estrogens, and androgens may be used individually or in combinations to improve final height and body proportions.
  • Growth hormones should be considered as soon as growth failure is identified, although there is no clear evidence for when to initiate treatment.
  • Estrogens should be considered in adolescents who have not demonstrated spontaneous development of secondary sex characteristics and have high follicle-stimulating hormone levels.
  • Androgens may be used as adjunctive therapy to growth hormones if diagnosis is made later (age 9 years or later) or in children with extreme short stature.
• Calcium and vitamin D supplementation is recommended to prevent osteoporosis.
• Additional health maintenance screening is indicated for prevention and monitoring of complications associated with Turner syndrome, such as hypertension, hypothyroidism, diabetes, and neurocognitive problems.