Name
TURNERS SYNDROME
DESCRIPTION
DETAIL
D.D. : - OTHER FORMS OF GONADAL DYSGENESIS - NOONAN SYNDROMEOTHER TESTS : * KARYOTYPING OR CHROMOSOMAL STUDY - IT IS A 45,X MONOSOMY CONDITION * SERUM GONADOTROPIN LEVELS - ELEVATED AT BIRTH & LATER AT THE NORMAL TIME OF PUBERTY * BLOOD SUGAR - DUE TO ABNORMALITY OF GLUCOSE METABOLISM MANY HAVE OVERT DIABETES, FASTING BLOOD SUGAR IS DONE * TSH LEVELS - HYPOTHYROIDISM IS COMMON IF CARDIAC CONDITIONS ARE ASSOCIATED : * ECG - LVH OR LT. VENTRICULAR DILATATION * ECHOCARDIOGRAPHY - HYPOPLASTIC LT. VENTRICLE * AUDIOMETRY - IF HEARING IMPAIRMENT IS PRESENT * RENAL FUNCTION TEST & ULTRA SOUND FOR KUB * BONE AGE BEFORE STARTING ESTROGEN OR GROWTH HORMONE THERAPY * BONE DENSITY
TYPENOTES
COMPLETE ABSENCE OR PARTIAL DELETION OF X CHROMOSOME. PT WITH 45, X/46, XY MOSAICISM MAY HAVE MIXED GONADAL DYSGENESIS & ARE AT HIGH RISK FOR GONADOBLASTOMA. THESE PTS MAY REQUIRE A PROPHYLACTIC GONADECTOMY TO PREVENT DEATH FROM MALIGNANCYMedical Care: Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to a number of chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment also are essential. In childhood, growth hormone therapy is standard to prevent short stature as an adult. Estrogen replacement therapy usually is required, but starting too early can compromise adult height. Estrogen usually is started from age 12-15 years. Surgical Care: Patients have a high risk of keloid formation. This must be taken into consideration if cosmetic surgery is contemplated because keloids may negate any gain from such procedures. SBE prophylaxis is required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. DRUG TREATMENT : 1. HUMAN GROWTH HORMONE : - SOMATOTROPIN :Taller adult heights are associated with earlier treatment and with the duration of treatment prior to induced or spontaneous puberty. With treatment, approximately 50% of patients reach an adult height of 150 cm (59") or more, compared to an untreated mean adult height of 142 cm (56"). 2. ANABOLIC STEROIDS : AS AN ADJUVANT FOR GROWTH HORMONE THERAPY - OXANDROLONE 3. THYROID REPLACEMENT THERAPY : - LEVOTHYROXINE 4. ESTROGEN REPLACEMENT THERAPY : Almost all individuals require estrogen replacement. Usually, this is started at a bone age of 12 years or more because starting earlier may compromise adult height. Estrogens usually are started at a chronologic age of 12-15 years. Adults usually require cyclic therapy with both estrogens and progestins. Transdermal or parenteral estrogens may be useful in limiting some adverse effects of estrogen therapy. - ETHINYL ESTRADIOL - CONJUGATED ESTROGENS 5. ANTIHYPERTENSIVE AGENTS : - PROPRANOLOL - CAPTOPRIL 6. VITAMINS & MINERALS
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), TSH, COMPLETE BLOOD COUNT, KARYOTYPING, SERUM HCG