1. From girl to young Lady: Growing up with Turner syndrome
Tala Dajani, MD MPH FAAP FACP FACE
Pediatric Endocrinology of Phoenix
Presentation and info at:

2. Objectives Discuss adulthood considerations
Review care schedule for teens and adults
Discuss transition plans

3. Adulthood Considerations
Hormones: thyroid, growth, female hormones
Bone health
Heart Health
Adult responsibility

4. Hormones: Thyroid Thyroid
Autoimmune thyroid disease: Hashimoto thyroiditis
Hypothyroidism
Fatigue
Weakness
Weight
Coarse, dry hair
Dry, rough pale skin
Hair loss
Cold intolerance
Constipation
Screening: yearly thyroid lab screen

5. Growth Hormone Poor growth Growth hormone therapy
Untreated average final adult height is 4 feet 7 inches
SHOX gene deficiency: short stature homeobox
Skeletal development
End organ resistance: skeletal dysplasia
Growth hormone therapy
GH therapy started early, estrogen treatment could be initiated at a younger, more age-appropriate time without compromising adult height
GH therapy should generally begin as soon as growth failure occurs
GH benefits: skeletal bone strength, cholesterol, muscle strength
GH treatment of girls with TS does not affect ascending or descending aortic diameter above the increase related to the larger body size. (J Clin Endocrinol Metab 91: 1785–1788, 2006)

8. Female Hormone Replacement
Ovarian failure
Hormonal replacement therapy should begin at a normal pubertal age and be continued until the age of 50 yr
Female sex hormones
Muscle and bone strength
Sex drive
Energy
Sense of well being.
Estrogen may play a role in memory and mood
Protective effect against heart disease

9. Estrogen Replacement Hormone replacement therapy (HRT) for:
Healthy bones: osteoporosis prevention
Development of secondary sexual characteristics.
Initiated between ages years
Introduced to the body to mimic body’s natural pubertal progression and course
Best dose and optimal HRT is individualized by care provider

10. Estrogen and Growth Timing
Estrogen start decision means start of pubertal development
Puberty marks the end of childhood growth
Estrogen therapy over time leads to growth plate fusion and completion of bone growth
Full growth potential is balanced with timing of starting puberty
Estrogen continues after growth hormone discontinued

11. HRT Choices Start low/ slow and graduate dose to mimic natural puberty
Forms of HRT
Oral estrogen: natural conjugated Equine estrogens
Estrogen Patches: Skin patches are like plasters which allow estrogen to be slowly absorbed through the skin.
Contraceptive pill: contain ethinyloestradiol

12. Bioidentical hormone therapy
Bioidentical estrogen: Estrace, Estraderm, Estrasorb, Climara, Vivelle or Femring
Bio-identical progesterone: Prometrium
No company has yet put bio-identical estradiol and progesterone into one combined product
Compounded preparations: estriol, estrone, estradiol, testosterone, progesterone and dehydroepiandrosterone (DHEA)
Menopausal symptoms

13. Hormone levels tested

14. HRT Risks Low estrogen levels in women
Osteoporosis
Heart disease.
HRT helps maintain bone health and reduce the risk of heart disease.
Replace hormones that the women’s bodies should be making—hormones that they need for their overall health.
HRT taken by women with certain health conditions is different than that taken my post-menopausal women.
The risks associated with post-menopausal HRT do not apply to pre-menopausal women taking HRT.

15. Bone Health Untreated Treated
Childhood: significant deficit in cortical
Adolescence: significant osteopenia
Treated
Long-term GH therapy: absence of osteopenia.
Long-term estrogen therapy: improved bone density but less than is also treated with GH
The data indicate that long-term GH treatment during the prepubertal and early to midpubertal years optimizes BMD and improves the prognosis for adequate peak bone mass being achieved after a puberty induced with exogenous estrogen
1000 mg of elemental calcium daily in the preteen years
1200–1500 mg of elemental calcium daily after 11 yr of age

16. Heart Health Congenital heart defects: ~ 20 %
Cholesterol abnormalities:
Improved with GH and estrogen
Hypertension should be aggressively
Cardiac imaging, preferably magnetic resonance imaging
Performed at diagnosis
Repeated at 5- to 10-yr intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation, a precursor to aortic dissection

17. Prevention Guidelines
Once
Karyotype
Renal ultrasound
Pelvic ultrasound
Comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders.
Yearly evaluation
Height, weight, blood pressure, auscultation of the heart
Blood work: Creatinine, blood urea nitrogen, ASAT, -GT, TSH, FT4, total cholesterol, low-density cholesterol, high-density cholesterol, triglycerides, glucose, HbA1c, urine dipstick analysis
Every 3-5 years
Celiac serology
Audiogram
Cardiac ultrasound, including electrocardiogram
MRI aorta (thoracic and abdominal)
Bone mineral density measurement (DEXA Scan)

18. Adult Self-care Steps towards independent healthcare behaviors
Knowledge of health history and health needs
Personal health records
Making appointments
Managing prescriptions
Adult care plan

19. Develop Support Systems
Woman's friends are important to both her mental well-being and her physical health.
Support groups

20. Health Records/ Care Plan
Surgeries
Cardiac status
Kidney status
Medications and dosages
Allergies
Hearing status
Prevention checklist

21. Conclusion Early diagnosis and intervention
Get girls involved early in their care and decisions
Maintain good records
Normalize hormone levels
Presentation and info at: drdajani.com