Chapter 31 Flashcards
How Do Turner’s syndrome patients present?
Lack of secondary sexual characteristics short stature primary amenorrhea
What is the differential diagnosis for search short stature and primary amenorrhea?
Turner’s syndrome, hypopituitarism, hypothyroidism, constitutional growth delay, deprivational dwarfism
What physical findings are positive for Turner’s syndrome?
Webb neck, low hospital hairline, wide space nipples, shield shaped chest, Tanner stage one breast and genital development.
What could be used for a diagnostic test to confirm Turner’s syndrome? What would be the treatment?
Karyotype analysis, FSH, LH. Hormone replacement therapy
What other conditions are generally present in Turner’s syndrome and need monitoring?
Cardiovascular/Reno/skeletal anomalies, hearing impairment, hypothyroidism, metabolic syndrome
What are the associated diagnostic test for the possible medical problems that should be done for Turner’s patients?
UA, BMP, TSH, fasting blood glucose, echo cardio gram or cardiac MRI, Reno ultrasound, pelvic ultrasound, hearing test, skeletal survey
What positive would be found for Turner syndrome?
45 XO Karyotype, high FSH and LH, streak ovaries on pelvic ultrasound, Short fourth metacarpal bones on skeletal survey
What confirms turner syndrome?
Karyotype analysis
How was growth hormone therapy supposed to be initiated?
For height below 5th percentile and is continued until epiphyseal closure
What growth hormone combination should be given to patients who are 9 to 12 years of age?
Growth hormone and anabolic steroids (Oxandrolone)
What therapy should be given until the expected age of menopause?
Estrogen at 12 and estrogen plus progestin at age greater than 13 until expected age of metapause
Why is OB/GYN consult needed for Turner syndrome?
For possible gonadal resection (in order to prevent gonadal cancer because of risk of gonadoblastoma in mosaicism (45X/46XY) or for in vitro fertilization in patients who desire pregnancy later in life)
What should the patient be counseled?
Regular diet, weight bearing exercises, medication compliance, parent counseling
What are the appropriate outpatient follow-up Labs/images that should be done?
DEXA scan for adults every 3 to 5 years
Audiograms every 3 to 5 years
Echocardiography every two years
Yearly UA screen for Reno anomalies screen for UTIs
Yearly fasting glucose LFT, GGT, and lipid profile. Yearly physical examination check for hypertension and monitor growth
What are the therapy necessary for turner syndrome?
Growth hormone therapy, estrogen replacement therapy, vitamin D and calcium, psychiatry consult, ophthalmology Consult, Ob/GYN consult, dietary consult, counseling
