+From girl to young Lady: Growing up with Turner syndrome

Tala Dajani, MD MPH FAAP FACP FACEPediatric 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 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)

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+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

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

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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