Snapshot A 19-year-old female presents to the gynecologist for the first time. She reports that she has not started to menstruate. The OB/GYN notes that the patient is short-statured and has notably delayed breast development with webbing skin between the neck and shoulders. Introduction Genetic disorder caused by a missing X chromosome in females (45XO) Most common cause of primary amenorrhea (uterus present) Most patients are infertile ETIOLOGY Associated with greater risk for developing co-morbities including cardiac problems hypertension coarctation of the aorta aortic valve abnormalities (e.g. bicuspid aortic valve) renal dysfuncton horseshoe kidney diabetes cystic hygroma cataracts osteoporosis thyroid problems Presentation Symptoms amenorrhea short stature webbed neck Physical exam amenorrhea with present uterus coarctation of the aorta may be evident on auscultation low hairline in back low-set ears extremity edema shortened fourth and fifth metacarpals hypertension signs of thyroid dysfunction stool guaiac may identify GI bleeding IMAGING Endoscopy may identify GI telangiectasias causing lower GI bleeding STUDIES Buccal smear for absent Barr bodies is outdated diagnostic method Labs low anti-Mullerian hormone Karyotype analysis diagnostic test of choice may identify 45XO, confirming diagnosis Fertility testing may identify 45XO, confirming diagnosis DIAGNOSIS Diagnosis is based primarily on physical exam and patient history Differential Down syndrome, polycystic ovarian disorder Treatment Prevention no preventive measures are available for this condition Medical management Growth hormone may help patient achieve normal height Estrogen/progesterone hormone replacement allows development of secondary sex characteristics may aid fertility IVF may assist in reproduction Complications Coarctation of the aorta, ovarian dysgenesis, GI telangiectasias Prognosis Good to very good with appropriate treatment Most patients live complete lives
QUESTIONS 1 of 6 1 2 3 4 5 6 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M3.PD.16.79) An 18-year-old female presents for evaluation of amenorrhea and short stature. She brings in a photograph of herself (Figure A) to show you how little she has grown in the past several years. What test should be used to confirm the suspected diagnosis? QID: 104621 FIGURES: A Type & Select Correct Answer 1 Thyroid stimulating hormone (TSH) test 0% (0/11) 2 Echocardiogram 0% (0/11) 3 Karyotype analysis 100% (11/11) 4 Cardiac magnetic resonance imaging (MRI) 0% (0/11) 5 Pregnancy test 0% (0/11) M 10 Question Complexity B Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review Tested Concept Review Full Topic
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