Turner's Syndrome Flashcards
What is the karyotype of a patient with Turner Syndrome?
45, XO, or sometimes 46, XY (mosaicism)
Abnormalities of CVS with TS
Bicuspid aortic valve, coarctation (narrowing) of aorta, systemic hypertension, prolonged QTc Syndrome (heart rhythm disorder), Partial anomalous pulmonary venous connection, Persistent left SVC
Abnormalities of Eyes with TS
Inner canthal folds, ptosis (drooping of the upper or lower eyelid), blue sclera
Abnormalities of Skeletal System with TS
cubitus valgus, short 4th metacarpal, short stature, scoliosis, madelung deformity
Abnormalities of Neck with TS
web neck, low hair line, cystic hygroma (abnormal growths that usually appear on a baby’s neck or head)
Abormalities with Learning in TS
difficulty in math, visual spatial skills, low NON-VERBAL scores
Abnormalities with Lymphatics in TS
Prenatal: cystic hygroma, Newborn: neck webbing
Abnormalities with Endrocrine System in TS
Hypothyroidism and Gonadal dysgenesis
Abnormalities of the Chest
broad widely spaced nipples; pectus excavatum (chest caving forward)
What is TS caused by?
deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome.
Can a diagnoses of TS even be given to a male?
No.
For a girl to be diagnosed with TS, she must:
be missing all or part ofone copy of the second sex chromosome and have phenotypic features consistent with the diagnosis.
Common Pitfalls in Disclosure with Medical Cultures
Secret keeping, difficulty communicating an infertility diagnosis, perceived negative experiences with physicians
Challenges Across Lifespan in TS
Infertility, stature, sexual development, concerns regarding health and aging
Abnormalities of Ear,Nose, Mouth
Prominent auricles, low-set, high narrow palate, small mandible
Stature Challenge Across Lifespan
Children: teased, Adolescents: teased, Adults: primary concern apart from infertility, Mature Adults: remain deeply affected, feeling they missed out on being a woman.
Sexual Development Challenge Across Lifespan
Children: few thought about it, Adolescents: definite concern felt “different”. Somefelt less feminine, Adults: did not seem overtly concerned beyond adolescent issues, Mature adults: few concerns
Concerns about Health/Aging Challenge Across Lifespan
Children: none, Adolescents: few are concerned, Adults: more concerns about osteoporosis, hearing loss, and uncertainty regarding future health. Mature adults: growing concerns with lack of available information on aging with TS.
Secret Keeping as a Pitfall in Disclosure
Patient depression, isolation, fear, general mistrust,can learn about diagnosis in potentiallly traumatic ways, nondisclosure may lead to delay in self education and ecoming a self advocate.
Difficulty Communication Infertility in Disclosure
Infertility diagnosis can lead to identity crises. Need to communicate well and provide appropriate information.
