Preventive Management of Turner syndrome

Clinical diagnosis: Malformation syndrome in females with neonatal pedal edema, webbed neck, heart anomalies
and later short stature with immature sexual development.
Incidence: 1 in 2500 female births with 10-fold higher incidence at conception
Laboratory diagnosis: 45,X karyotype in the majority with rarer deletions of Xp or Xq; 1/3 of patients are
mosaic.
Genetics: Minimal recurrence risk for parents except in rare cases of translocation; mosaic females who are fertile
have an increased risk for chromosomal anomalies in their offspring.
Key management issues: Karyotyping and possible pelvic ultrasound to define mosaicism and tumor risks;
monitoring and therapy for growth and pubertal failure with growth hormone and estrogen; monitoring for eye,
ear, thyroid, cardiovascular, lymphatic, urinary tract, genital, and autoimmune problems; alertness for GI
bleeding, protein-losing enteropathy, or gonadoblastoma in the streak gonad
Growth charts: Lyon et al. (1985).
Parent groups: National Turner Syndrome Society of the United States, 15500 Wayzata Blvd., Minnetonka MN,
55391;Turner Syndrome Society of Canada York University,768-214 Twelve Oaks, 4700 Keele Street, Toronto
ON, Canada, M3J 1P3; The UK Turner Syndrome Society c/o The Child Growth Foundation, 2 Mayfield Ave.,
Chiswick, London, 44 (0181) 994-7625, cgflondon@aol.com
Basis for management recommendations: Consensus recommendations of the Committee on Genetics,
American Academy of Pediatrics and the complications below as documented by Hall et al. (1982), Hall &
Gilchrist (1990).
Summary of clinical concerns
Learning Subtle differences (decreased fine motor execution, numerical abilities, spatial
General visualization
Behavior Depression (10%), anorexia nervosa
Growth Short stature
Tumors Multiple nevi, hemangiomas, gonadoblastomas (25% if Y chromosome)
Eye Eye anomalies, cataracts, strabismus (22%)
Facial Ear Chronic otitis (80%)
Nose Choanal atresia (1%)
Mouth Oromotor dysfunction, high palate (36%), cleft lip/palate (2–3%)
Surface Neck/trunk “Shield” chest (53%), pterygium colli (46%), altered chest contour
Epidermal Cutaneous nevi, seborrhea, facial hirsutism, keloid formation
Cranial Craniosynostosis
Skeletal Axial Scoliosis, hypoplastic arch of atlas
Limbs Cubitus valgus (54%), short metacarpals 4/5 (48%), osteoporosis
(50%), hip dislocation
Digestive GI bleeding, GI lymphangiectasia, diarrhea, protein loss, malabsorption,
enteropathy
Circulatory Cardiac anomalies (16%–coarctation of aorta, bicuspid aortic valve), lymphedema
Internal (63–80%), hypertension (20%)
Endocrine Hypothyroidism (20–30%), delayed or absent puberty (75–90%)
RES Autoimmune disorders–diabetes mellitus (adult onset, 5%),
ulcerative colitis
Excretory Renal anomalies (anomalous ureters, horseshoe kidney, renal aplasia/hypoplasia)
Gonadal dysgenesis, infertility (95%)
Genital
Neural CNS Rare cognitive disability, subtle learning differences
Sensory Hearing deficits (15–45%), visual deficits (22%)
RES, reticuloendothelial system, GI, gastrointestinal system, bold: frequency > 20%

Key references
Committee on Genetics (1995). Pediatrics 96:1166-73.
Hall, J. G. & Gilchrist, D. M.. (1990). Pediatric Clinics of North America 37:1421-40.
Hall, J. G. et al. (1982). Western Journal of Medicine 137:32-44.
Lyon, A. J. et al. (1985). Archives of Diseases of Childhood. 60:932-6.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes, Cambridge University Press, 2000.
 Turner syndrome
Preventive Medical Checklist (0–1 yr)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
Neonatal Newborn screen  Feeding/stooling  Genetic evaluation 
--__/__/__-- Karyotype  Cataracts  Feeding specialist
3

Peripheral pulses 
Newborn screen  Hips
HB  

1 month Echocardiogram  Feeding/stooling  Family support4 

--__/__/__-- Renal sonogram  Peripheral pulses  Cardiology 
BP  Hips 

2 month Growth  Feeding/stooling  Early intervention3,5 

--__/__/__-- Hearing, vision2  Otitis  Genetic counseling 
HB1  Hib 
DTaP, IPV 
RV 
4 month Growth  Feeding/stooling  Early intervention3,5 
--__/__/__-- Hearing, vision2  Otitis  Genetics 
ENT3 
HB1  Hib 
DTaP/IPV 
RV 
6 month Growth  Otitis  Family support4 
--__/__/__-- Hearing, vision2  Sinusitis Peripheral 
Urinalysis, BP  pulses 
Hib  IPV1 
DTaP 
RV 
9 month Audiology  Otitis, sinusitis 
--__/__/__-- Strabismus 
IPV1 

1 year Growth  Otitis, sinusitis  Family support4 

--__/__/__-- Hearing, vision2  Peripheral pulses  Early intervention
5

T4, TSH  Cosmetic issues
3
 Plastic surgery
3

HB  Hib1 
IPV1 
MMR1  Var1 
Clinical concerns for Turner syndrome, ages 0–1 years
Eye anomalies (strabismus) Hypothyroidism Learning differences
Chronic otitis Coarctation of aorta Keloid formation
Hearing loss Bicuspid aortic valve Seborrhea
Visual problems Horseshoe kidney Gonadoblastoma
High palate, dental Duplicated ureters
Guidelines for the neonatal period should be undertaken at whatever age the diagnosis is made; DTaP, acellular
DTP; IPV, inactivated poliovirus (oral polio also used); RV, rotavirus; MMR, measles-mumps-rubella; Var,
varicella;1alternative timing; 2by practitioner; 3as dictated by clinical findings—cosmetic issues include webbing,
nevi, keloids; 4parent group, family/sib, financial, and behavioral issues as discussed in the preface; 5including
developmental monitoring and motor/speech therapy.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes, Cambridge University Press, 2000.
 Turner syndrome
Preventive Medical Checklist (15m–6yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
15 months Audiology  Family support4 
--__/__/__-- Cardiac echo3  Early intervention5 
Cardiology3 
Hib1  MMR1 
DTaP, IPV 1 
Varicella1 
18 months Urinalysis, BP  Strabismus 
--__/__/__--
DTaP, IPV 1 
Varicella1 
Influenza3 
2 years Hearing, vision2  Otitis  Family support5 
--__/__/__-- Audiology  Sinusitis  Genetics 
T4, TSH  ENT3 
Influenza3 
Urinalysis, BP  Ophthalmology 
Pneumovax3 
Dentist 

3 years Hearing, vision2  Otitis  Family support5 

--__/__/__-- Audiology  Sinusitis  Preschool transition
5

T4, TSH  Genetics 
Influenza3 
Urinalysis, BP  Cardiology3 
Pneumovax3 
Cardiac echo3 
Dentist 

4 years Growth  Nutrition  Family support5 

--__/__/__-- Hearing, vision2  Preschool program3,5 
T4, TSH  Genetics 
Influenza3 
Ophthalmology3 
Pneumovax3 
Dentist 
5 years Audiology  Sinusitis  School transition3,5 
--__/__/__-- T4, TSH  Cardiology4 
Cardiac echo3  Endocrinology1 
DTaP,IPV1 
Urinalysis, BP 
MMR1 

6 years Growth  School progress  Family support5 

--__/__/__-- Hearing, vision2  Nutrition Scoliosis  Ophthalmology, ENT
3

T4, TSH  Cosmetic issues
3
 Plastic surgery
3

DTaP, IPV1 
Genetics 
MMR1 
Endocrinology1 
Dentist 
Clinical concerns for Turner syndrome, ages 1–6 years
Eye anomalies (strabismus) Hypothyroidism Learning differences
Chronic otitis Coarctation of aorta Keloid formation
Hearing loss Bicuspid aortic valve Seborrhea
Visual problems Horseshoe kidney Gonadoblastoma
High palate, dental Duplicated ureters
Guidelines for prior ages should be undertaken at the time of diagnosis; DTaP, acellular DTP; IPV, inactivated
poliovirus (oral polio also used); MMR, measles-mumps-rubella; 1alternative timing; 2by practitioner; 3as dictated by
clinical findings—cosmetic issues include webbing, nevi, keloids; 4parent group, family/sib, financial, and
behavioral issues as discussed in the preface; 5including developmental monitoring and motor/speech therapy.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes, Cambridge University Press, 2000.
 Turner syndrome
Preventive Medical Checklist (6+ yrs)
Patient Birth Date / / Number
Pediatric Screen Evaluate Refer/Counsel
8 years Growth  Puberty  School options 
--__/__/__-- T4, TSH  Scoliosis  Genetics 
Cardiac echo3  Obesity  Cardiology
3

Dentist 
Urinalysis, BP  Diet, exercise 
10 years Hearing, vision2  School progress  Ophthalmology 
--__/__/__-- T4, TSH  Puberty  ENT
3

LH, FSH  Scoliosis  Endocrinology 
12 years T4, TSH  Puberty  Family support4 
--__/__/__-- LH, FSH  Behavior  School options 
Echoardiogram3  Obesity  Genetics 
Td1, MMR, Var 
Urinalysis, BP  Cardiology3 
CBC  Dentist 
Scoliosis 
Cholesterol 
14 years Hearing, vision2  School progress  Genetics 
--__/__/__-- T4, TSH  Puberty  Endocrinology 
LH, FSH  Behavior  Diet, exercise 
CBC  Dentist 
Cholesterol 
Breast CA 
Testicular CA 
16 years T4, TSH  Puberty  Vocational planning3 
--__/__/__-- Urinalysis, BP  Behavior  Cardiology
3

Obesity  Diet, exercise 
Td1  CBC 
Cholesterol 
Sexual5 
Dentist 
18 years Hearing, vision2  School progress  Vocational planning3 
--__/__/__-- T4, TSH  Puberty  Endocrinology
3

Behavior 
CBC  Sexual5 
Cholesterol 
Scoliosis 
20 years6 Hearing, vision2  Behavior  Family support4 
--__/__/__-- Cardiac sono3  Work, residence  Dentistry 
Urinalysis, BP  Obesity  Diet, exercise 
CBC  Sexual5 
Cardiology3 
Cholesterol 
Dentist 
Clinical concerns for Turner syndrome, ages 6+ years
Hearing loss Mitral valve prolapse Learning differences
High palate, dental Coarctation Short stature
Hypothyroidism Aortic aneurysm Behavior problems
Diabetes mellitus Scoliosis, osteoporosis Delayed puberty
Hypertension Gonadoblastoma Keloid formation

Guidelines for prior ages should be undertaken at the time of diagnosis; Td, tetanus/diptheria; MMR, measles-
mumps-rubella; Var, varicella; FH, follicle stimulating hormone; LH, luteinizing hormone 1alternative timing; 2by
practitioner; 3as dictated by clinical findings—cosmetic issues include webbing, nevi, keloids; 4parent group,
family/sib, financial, and behavioral issues as discussed in the preface; 5birth control, STD screening if sexually
active; 6repeat every decade.

Wilson GN, Cooley WC: Preventive Management of Children with Congenital Anomalies and Syndromes, Cambridge University Press, 2000.