Turner’s Syndrome

TURNER’S SYNDROME (XO)—HENRY TURNER–1938-ENDOCRINOLOGY “A SYNDROME OF INFANTILISM,WEBBED NECK, AND CUBITUS VALGUS”
NO BARR BODY—-(XO) ONLY FEMALES AFFECTED—–SUSCEPTIBLE TO X-LINKED DISEASE LIKE MALES
1/5000 LIVE BIRTHS (?INTRAUTERINE INSULT)
LOW POST HAIRLINE
LOW AND POST SET PROMINENT EARS WITH LARGE LOBES
WEBBING OF NECK AND DIGITS
WIDELY SPACED NIPPLES WITH “SHIELD CHEST”
INCREASED CARRYING ANGLE OF ARM—FOREARM (CUBITUS VALGUS)
GONADAL HYPOPLASIA (STREAK OVARIES)—-INCREASED RISK OF CA
OSSICULAR DEFORMITIES—–MIXED HEARING LOSS, MAY HAVE SOME SNHL THAT COULD BE PROGRESSIVE?   SERIAL AUDIOS?

SHORT STATURE—INFANTILISM
15% COARCTATION OF AORTA, BICUSPID AORTIC VALVE
RENAL ABNL—-HORSESHOE KIDNEY
SHORT 4TH METACARPAL AND HYPOPLASTIC NAILS
HYPOSMIA
SWOLLEN HANDS AND FEET AT BIRTH—NEONATAL PERIPHERAL EDEMA
HIGH ARCHED PALATE—POSSIBLE CLEFT
TRIANGULAR SHAPED FACE
EPICANTHAL FOLDS
NL INTELLECT?—SOME PROBLEMS WITH SPACIAL PERCEPTION AND OTHER DEVELOPMENTAL ISSUES
Rx : HORMONAL—–ESTROGEN, GH DOES NOT WORK?—MAY WITH SOME IF STARTED EARLY ENOUGH

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