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

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

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

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

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)

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

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

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

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

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

Hormone levels tested

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.

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

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

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)

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

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

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

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