Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group Flashcards
What is the incidence of Turner Syndrome?
1 in 2500 live born females
When should a karyotype be performed for diagnosis of TS?
Any female with:
- unexplained growth failure
- Pubertal delay
- 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)
What percentage of patients with TS have aortic coarctation?
11%
4 fold more frequent in patients with neck webbing
What percentage of patients with TS have bicuspid aortic valve (BAV)?
16%
37% with neck webbing
What is the cardiovascular screening and monitoring algorithm for girls and women with TS?
Screening (all patients at time of diagnosis):
- Evaluation by cardiologist with expertise in CHD
- Comprehensive exam incld. BP in all extremities
- 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 - 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
What screening should occur at diagnosis of TS in children and adults with TS?
All patients:
- CV evaluation by specialist
- Renal US
- Hearing evaluation by an audiologist
- Evaluation for scoliosis/kyphosis
- Evaluation for knowledge of TS, referral to support groups
- Evaluation for growth and pubertal development
Age 0-4yo:
- Evaluation for hip dislocation
- Eye exam by pediatric ophthalmologist if age >/=1
Age 4-10yo:
- TSH, fT4, and celiac screen (TTG Ab)
- Educational/psychosocial evaluations
- Orthodontic evaluation (if age >/= 7)
Age >10yo:
- T4, TSH, and celiac screen (TTG Ab)
- Educational and psychosocial evaluations
- Orthodontic evaluation
- Evaluation of ovarian function/estrogen replacement
- LFTs, FBG, lipids, CBC, Cr, BUN
- BMD (if age >/= 18yo)
What ongoing monitoring is recommended in TS?
All ages:
- Cardiologic evaluation as indicated
- BP q1y
- ENT audiology q1-5y
Girls <5yo
1. Social skills at age 4-5y
School age
- Liver thyroid screening q1y
- Celiac screen q2-5y
- Educational and social progress annually
- Dental and orthodontic as needed
Older girls and adults:
- Fasting lipids and BS q1y
- Liver & thyroid screening q1y
- Celiac screen as indicated
- Age-appropriate evaluation of pubertal development and pyschosexual adjustment
What are the concerns with lymphatics in TS?
Fetal lymphedema and cystic hygromas
Become peripheral lymphedema and webbed neck
Lymphedema resolves usu. within 2y
What urinary system abnormalies are present in TS?
30-40% of patients with TS
- Collecting-system malformations (~20%)
- Horseshoe kidney (~10%)
- Malrotation and other positional abnormalities (~5%)
What eye abnormalities are present in TS?
- Epicanthal folds
- Ptosis
- Hypertelorism
- Upward slanting palpebral fissures
- Red-green color deficiency ~8%
- Strabismus and hyperopia ~25-35%
- Amblyopia
What cardiovascular abnormalities are present in TS?
- Aortic coarctation
- Bicuspid aortic ventilation
- Ascending aortic dilation
- Aneurysm formation
- Aortic dissection
- Partial anomalous pulmonary connection (PAPVC)
- Persistent L SVC
- R axis deviation
- T wave abnormalities
- Accelerated AV conduction
- QTc prolongation
What ear abnormalities are present in TS?
- Otitis media
- Conductive hearing loss
- Sensorineural hearing loss
- Middle ear effusion
- Cholesteatoma
What are the dental abnormalities associated with TS?
- Flattened cranial base angle
- Marked reduction in posterior cranial base length
- Retrognathic face
- Narrow maxilla
- High, arched palate
- Wide and micrognathic mandible
- Distal molar occlusion
- Anterior and lateral open bite
- Lateral crossbite
- Early eruption of secondary teeth
- Simple crown morphology
- Thinner enamel
- Less dentine
- Shorter roots
What are the recommendations regarding dental screening?
See pediatric dental specialist by 2yo
Orthodontist by 7yo
What are the autoimmune associations with TS?
- Autoimmune thyroiditis
2. Celiac disease
