Turner syndrome diagnostic study of choice

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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

The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Examination of additional cells, polymerase chain reaction, fluorescent in situ hybridization, Southern blotting, restricted fragment length polymorphisms and new generation gene sequencing techniques may be employed following the interpretation of the initial karyotype.

Diagnostic Study of Choice

Prenatal Visit – Ultrasound + karyotype analysis

Birth to 1 month of age – Confirmation of prenatal diagnosis OR New karyotype analysis + Additional cytogenic studies

1 month to 5 years of age

  • Comparison of present weight with previous weights is important as lymphedema dissipates due to diuresis in the first month of the child’s life.
  • Remember that Turner syndrome is the most common cause of short stature in an otherwise healthy girl. [2]
  • Assess for indications for of growth hormone therapy. Discuss risks and benefits.
  • Check for hypertension, brachiofemoral delay and auscultatory gap. If hypertension persists, treat aggressively. Consult with a pediatric cardiologist.
  • If a cardiac anomaly is present, refer to a pediatric cardiologist and suggest antibiotic prophylaxis for infective endocarditis.
  • If urinary tract abnormalities are present, perform a urinalysis and culture.
  • Perform regular hearing screens. Discuss risk factors (bottle feeding, passive smoking, group child-care) for otitis media and perform an evaluation for same. If present, refer to an otolaryngologist to discuss the placement of tympanostomy tubes and advise avoidance of loud noises.
  • Evaluate for speech delays (which may be secondary to hearing loss).
  • Refer to pediatric specialist and development intervention programs if indicated.
  • Check for developmental delays and learning difficulties, especially visual spatial deficits. A thorough evaluation prior to entry into (and according to) preschool guidelines is warranted.

5 to 13 years of age

13-21 years of age

  • Monitor for increased incidence of pigmented nevi during adolescence and remove if they rub against clothing.[1]
  • Check for hypertension, brachiofemoral delay and an auscultatory gap. Treat accordingly and aggressively.
  • Screen for hyperlipidemia once during adolescence, with a fasting lipid profile.
  • Screen for kyphosis/scoliosis annually.
  • Perform regular hearing screens. Discuss risk factors for otitis media and perform an evaluation for same. If present, refer to an otolaryngologist, discuss the placement of tympanostomy tubes and advise avoidance of loud noises.
  • Check ovarian reserve using serum lutenizing hormone, serum follicle stimulating hormone, serum gonadotrophin releasing hormone and anti Mullerian hormone levels.
  • Refer to a pediatric endocrinologist to discuss sex hormone replacement therapy.[3]
  • Refer to a cardiologist regardless of whether previous investigations suggested cardiac abnormalities or not.
  • Screen thyroid function test at 1-2 year intervals.
  • Performance in school, social adaptation, immaturity for their age, assisted reproductive techniques, sexual activity, sexually transmitted diseases and spontaneous pregnancies are issues that need to be discussed with the patient.


References

  1. 1.0 1.1 1.2 1.3 Shankar RK, Backeljauw PF (2018). "Current best practice in the management of [[Turner syndrome]]". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338. URL–wikilink conflict (help)
  2. Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J (2018). "A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment". Intractable Rare Dis Res. 7 (4): 223–228. doi:10.5582/irdr.2017.01056. PMC 6290843. PMID 30560013.
  3. 3.0 3.1 Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology (2003). "Health supervision for children with Turner syndrome". Pediatrics. 111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID 12612263.

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