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Guidelines > Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group > Flashcards

Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group Flashcards

1
Q

What is the incidence of Turner Syndrome?

A

1 in 2500 live born females

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2
Q

When should a karyotype be performed for diagnosis of TS?

A

Any female with:

  1. unexplained growth failure
  2. Pubertal delay
  3. Any constellation of the following clinical findings:
    a) edema of the hands or feet
    b) nuchal folds
    c) left-sided cardiac anomalies, esp. coarctation of the aorta or HLH
    d) low hairline
    e) low-set ears
    f) small mandible
    g) short stature with growth velocity <10th percentile for age
    h) markedly elevated levels of FSH
    i) cubitus valgus
    j) nail hypoplasia
    h) hyperconvex uplifted nails
    i) multiple pigmented nevi
    j) characteristic facies
    k) short fourth metacarpal
    l) high arched palate
    m) chronic otitis media (OM)
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3
Q

What percentage of patients with TS have aortic coarctation?

A

11%

4 fold more frequent in patients with neck webbing

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4
Q

What percentage of patients with TS have bicuspid aortic valve (BAV)?

A

16%

37% with neck webbing

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5
Q

What is the cardiovascular screening and monitoring algorithm for girls and women with TS?

A

Screening (all patients at time of diagnosis):

  1. Evaluation by cardiologist with expertise in CHD
  2. Comprehensive exam incld. BP in all extremities
  3. All require clear imaging of heart, aortic valve, aortic arch, and pulmonary veins:
    a) Echocardiography is usually adequate for infants and young girls
    b) MRI and echo for older girls and adults
  4. ECG

Monitoring: f/u depends on clinical situation:

For patients with apparently normal CVS and age-appropriate BP:
1. Reevaluation with imaging at timely occasions, e.g. at transition to adult clinic, before attempting pregnancy, or with appearance of hypertension. Girls that have only had echocardiography should undergo MRI when old enough to cooperate with the procedure
2. Otherwise, imaging q5-10y
For patients with CV pathology, treatment and monitoring determined by cardiologist

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6
Q

What screening should occur at diagnosis of TS in children and adults with TS?

A

All patients:

  1. CV evaluation by specialist
  2. Renal US
  3. Hearing evaluation by an audiologist
  4. Evaluation for scoliosis/kyphosis
  5. Evaluation for knowledge of TS, referral to support groups
  6. Evaluation for growth and pubertal development

Age 0-4yo:

  1. Evaluation for hip dislocation
  2. Eye exam by pediatric ophthalmologist if age >/=1

Age 4-10yo:

  1. TSH, fT4, and celiac screen (TTG Ab)
  2. Educational/psychosocial evaluations
  3. Orthodontic evaluation (if age >/= 7)

Age >10yo:

  1. T4, TSH, and celiac screen (TTG Ab)
  2. Educational and psychosocial evaluations
  3. Orthodontic evaluation
  4. Evaluation of ovarian function/estrogen replacement
  5. LFTs, FBG, lipids, CBC, Cr, BUN
  6. BMD (if age >/= 18yo)
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7
Q

What ongoing monitoring is recommended in TS?

A

All ages:

  1. Cardiologic evaluation as indicated
  2. BP q1y
  3. ENT audiology q1-5y

Girls <5yo
1. Social skills at age 4-5y

School age

  1. Liver thyroid screening q1y
  2. Celiac screen q2-5y
  3. Educational and social progress annually
  4. Dental and orthodontic as needed

Older girls and adults:

  1. Fasting lipids and BS q1y
  2. Liver & thyroid screening q1y
  3. Celiac screen as indicated
  4. Age-appropriate evaluation of pubertal development and pyschosexual adjustment
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8
Q

What are the concerns with lymphatics in TS?

A

Fetal lymphedema and cystic hygromas

Become peripheral lymphedema and webbed neck
Lymphedema resolves usu. within 2y

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9
Q

What urinary system abnormalies are present in TS?

A

30-40% of patients with TS

  1. Collecting-system malformations (~20%)
  2. Horseshoe kidney (~10%)
  3. Malrotation and other positional abnormalities (~5%)
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10
Q

What eye abnormalities are present in TS?

A
  1. Epicanthal folds
  2. Ptosis
  3. Hypertelorism
  4. Upward slanting palpebral fissures
  5. Red-green color deficiency ~8%
  6. Strabismus and hyperopia ~25-35%
  7. Amblyopia
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11
Q

What cardiovascular abnormalities are present in TS?

A
  1. Aortic coarctation
  2. Bicuspid aortic ventilation
  3. Ascending aortic dilation
  4. Aneurysm formation
  5. Aortic dissection
  6. Partial anomalous pulmonary connection (PAPVC)
  7. Persistent L SVC
  8. R axis deviation
  9. T wave abnormalities
  10. Accelerated AV conduction
  11. QTc prolongation
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12
Q

What ear abnormalities are present in TS?

A
  1. Otitis media
  2. Conductive hearing loss
  3. Sensorineural hearing loss
  4. Middle ear effusion
  5. Cholesteatoma
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13
Q

What are the dental abnormalities associated with TS?

A
  1. Flattened cranial base angle
  2. Marked reduction in posterior cranial base length
  3. Retrognathic face
  4. Narrow maxilla
  5. High, arched palate
  6. Wide and micrognathic mandible
  7. Distal molar occlusion
  8. Anterior and lateral open bite
  9. Lateral crossbite
  10. Early eruption of secondary teeth
  11. Simple crown morphology
  12. Thinner enamel
  13. Less dentine
  14. Shorter roots
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14
Q

What are the recommendations regarding dental screening?

A

See pediatric dental specialist by 2yo

Orthodontist by 7yo

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15
Q

What are the autoimmune associations with TS?

A
  1. Autoimmune thyroiditis

2. Celiac disease

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16
Q

What are the recommendations regarding autoimmune screening in TS?

A

TSH and fT4 q1y if >4yo

TTG IgA Ab q2-5y if >4yo

17
Q

What are the skin manifestations of TS?

A
  1. Acquired melanocytic nevi

2. Keloid formation

18
Q

What are the skeletal system associations with TS?

A
  1. Short stature (SHOX gene often)
  2. Stocky with wide body
  3. Relatively large hands and feet
  4. Short neck
  5. Cubitus valgus
  6. Genu valgum
  7. short 4th MCP
  8. Madelung deformity of wrist
  9. DDH
  10. Scoliosis (10-20%)
  11. Kyphosis
  12. Vertebral wedging
19
Q

What pubertal abnormalities are associated with TS?

A
  1. 80% no spontaneous pubertal development

2. 90% gonadal failure

20
Q

What are the recommendations re: ovarian hormone replacement treatment in 10-11yo with TS?

A

Monitor for spontaneous puberty by Tanner staging and FSH level

21
Q

What are the recommendations re: ovarian hormone replacement treatment in 12-13yo with TS?

A

If no spontaneous development and FSH elevated, begin low dose E2: E2 0.2-0.4mg IM q1m, 6.25ug transdermal daily, or 0.25mg PO daily

22
Q

What are the recommendations re: ovarian hormone replacement treatment in 12.5-15yo with TS?

A

Gradually increase E2 dose over about 2 yr (e.g. 14, 25, 37, 50, 75, 100, 200 μg daily via patch) to adult dose (100-200ug transdermal or 2-4mcg micronized E2 or 20ug EE2 or 1.25-2.5mg CEE

23
Q

What are the recommendations re: ovarian hormone replacement treatment in 14-16yo with TS?

A

Begin cyclic progesterone treatment after 2 yr of estrogen or when breakthrough bleeding occurs

Oral micronized progesterone best option at present; usual adult dose is 200 mg/d on d 20–30 of monthly cycle or d 100–120 of 3-month cycle

24
Q

What are the recommendations re: ovarian hormone replacement treatment in 14-30yo with TS?

A

Continue full doses at least until age 30 because normally estrogen levels are highest between age 15 and 30 yr

Some women may prefer using oral or transdermal contraceptive for HRT; monitor endometrial thickness

Guidelines (13 decks)

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