Transcript Turner Syndrome From Girl to Young Lady

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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
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Objectives
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Discuss adulthood considerations
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Review care schedule for teens and adults
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Discuss transition plans
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Adulthood Considerations
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Hormones: thyroid, growth, female hormones
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Bone health
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Heart Health
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Adult responsibility
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Hormones: Thyroid
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Thyroid
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Autoimmune thyroid disease: Hashimoto thyroiditis
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Hypothyroidism
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Fatigue
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Weakness
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Weight
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Coarse, dry hair
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Dry, rough pale skin
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Hair loss
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Cold intolerance
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Constipation
Screening: yearly thyroid lab screen
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Growth Hormone
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Poor growth
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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
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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
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Ovarian failure
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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
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Estrogen Replacement
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Hormone replacement therapy (HRT) for:
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Healthy bones: osteoporosis prevention
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Development of secondary sexual characteristics.
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Initiated between ages 12-15 years
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Introduced to the body to mimic body’s natural pubertal
progression and course
Best dose and optimal HRT is individualized by care provider
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Estrogen and Growth Timing
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Estrogen start decision means start of pubertal development
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Puberty marks the end of childhood growth
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Estrogen therapy over time leads to growth plate fusion and
completion of bone growth
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Full growth potential is balanced with timing of starting puberty
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Estrogen continues after growth hormone discontinued
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HRT Choices
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Start low/ slow and graduate dose to mimic natural puberty
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Forms of HRT
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Oral estrogen: natural conjugated Equine estrogens
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Estrogen Patches: Skin patches are like plasters which allow
estrogen to be slowly absorbed through the skin.
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Contraceptive pill: contain ethinyloestradiol
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Bioidentical hormone therapy
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Bioidentical estrogen: Estrace, Estraderm, Estrasorb, Climara,
Vivelle or Femring
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Bio-identical progesterone: Prometrium
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No company has yet put bio-identical estradiol and
progesterone into one combined product
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Compounded preparations: estriol, estrone, estradiol,
testosterone, progesterone and dehydroepiandrosterone
(DHEA)
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Menopausal symptoms
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Hormone levels tested
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HRT Risks
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Low estrogen levels in women
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Osteoporosis
Heart disease.
HRT helps maintain bone health and reduce the risk of heart
disease.
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Replace hormones that the women’s bodies should be
making—hormones that they need for their overall health.
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HRT taken by women with certain health conditions is
different than that taken my post-menopausal women.
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The risks associated with post-menopausal HRT do not apply
to pre-menopausal women taking HRT.
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Bone Health
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Untreated
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Childhood: significant deficit in cortical
Adolescence: significant osteopenia
Treated
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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
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1000 mg of elemental calcium daily in the preteen years
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1200–1500 mg of elemental calcium daily after 11 yr of age
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Heart Health
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Congenital heart defects: ~ 20 %
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Cholesterol abnormalities:
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Improved with GH and estrogen
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Hypertension should be aggressively
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Cardiac imaging, preferably magnetic resonance imaging
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Performed at diagnosis
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Repeated at 5- to 10-yr intervals to assess for congenital heart
abnormalities and the emergence of aortic dilatation, a precursor
to aortic dissection
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Prevention Guidelines
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Once
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Yearly evaluation
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Karyotype
Renal ultrasound
Pelvic ultrasound
Comprehensive educational evaluation in early childhood to identify potential
attention-deficit or nonverbal learning disorders.
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
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Celiac serology
Audiogram
Cardiac ultrasound, including electrocardiogram
MRI aorta (thoracic and abdominal)
Bone mineral density measurement (DEXA Scan)
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Adult Self-care
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Steps towards independent healthcare behaviors
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Knowledge of health history and health needs
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Personal health records
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Making appointments
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Managing prescriptions
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Adult care plan
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Develop Support Systems
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Woman's friends are important to both her mental well-being
and her physical health.
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Support groups
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Health Records/ Care Plan
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Surgeries
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Cardiac status
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Kidney status
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Medications and dosages
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Allergies
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Hearing status
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Prevention checklist
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Conclusion
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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