Turner's Syndrome

Question 1

What is the karyotype of a patient with Turner Syndrome?

Answer 1

45, XO, or sometimes 46, XY (mosaicism)

Question 2

Abnormalities of CVS with TS

Answer 2

Bicuspid aortic valve, coarctation (narrowing) of aorta, systemic hypertension, prolonged QTc Syndrome (heart rhythm disorder), Partial anomalous pulmonary venous connection, Persistent left SVC

Question 3

Abnormalities of Eyes with TS

Answer 3

Inner canthal folds, ptosis (drooping of the upper or lower eyelid), blue sclera

Question 4

Abnormalities of Skeletal System with TS

Answer 4

cubitus valgus, short 4th metacarpal, short stature, scoliosis, madelung deformity

Question 5

Abnormalities of Neck with TS

Answer 5

web neck, low hair line, cystic hygroma (abnormal growths that usually appear on a baby’s neck or head)

Question 6

Abormalities with Learning in TS

Answer 6

difficulty in math, visual spatial skills, low NON-VERBAL scores

Question 7

Abnormalities with Lymphatics in TS

Answer 7

Prenatal: cystic hygroma, Newborn: neck webbing

Question 8

Abnormalities with Endrocrine System in TS

Answer 8

Hypothyroidism and Gonadal dysgenesis

Question 9

Abnormalities of the Chest

Answer 9

broad widely spaced nipples; pectus excavatum (chest caving forward)

Question 10

What is TS caused by?

Answer 10

deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome.

Question 11

Can a diagnoses of TS even be given to a male?

Answer 11

No.

Question 12

For a girl to be diagnosed with TS, she must:

Answer 12

be missing all or part ofone copy of the second sex chromosome and have phenotypic features consistent with the diagnosis.

Question 13

Common Pitfalls in Disclosure with Medical Cultures

Answer 13

Secret keeping, difficulty communicating an infertility diagnosis, perceived negative experiences with physicians

Question 14

Challenges Across Lifespan in TS

Answer 14

Infertility, stature, sexual development, concerns regarding health and aging

Question 15

Abnormalities of Ear,Nose, Mouth

Answer 15

Prominent auricles, low-set, high narrow palate, small mandible

Question 16

Stature Challenge Across Lifespan

Answer 16

Children: teased, Adolescents: teased, Adults: primary concern apart from infertility, Mature Adults: remain deeply affected, feeling they missed out on being a woman.

Question 17

Sexual Development Challenge Across Lifespan

Answer 17

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

Question 18

Concerns about Health/Aging Challenge Across Lifespan

Answer 18

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.

Question 19

Secret Keeping as a Pitfall in Disclosure

Answer 19

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.

Question 20

Difficulty Communication Infertility in Disclosure

Answer 20

Infertility diagnosis can lead to identity crises. Need to communicate well and provide appropriate information.