From girl to young Lady: Growing up with Turner syndrome

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: www.drdajani.com

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 • 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 ClinEndocrinolMetab 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 12-15 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 • 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