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Flashcards in Turner Deck (24):
1

Turner Syndrome Karyotype

45,XO

2

CVS

Bicuspid aortic valve
Coarctation of the aorta
Systemic hypertension
Long QT
Partial anomalous pulmonary venous connection
Persistent left SVC

3

EYE

Inner canthal folds
Ptosis
Blue Sclera

4

SKELETAL

Cubitus Vulgus
Short 4th metacarpal
Short stature

5

NECK

Webbed
Low Hairline
Cystic Hygroma

6

LEARNING

Difficulty in math
Visual spacial skills
Low Non verbal scores

7

If we inactivate an X, why does Turner's exist?

Because associated with region that is pseudoautosomal
PAR1
PAR2

8

ENT

Prominent auricles,
Low set ears
High narrow palate
Small amndible

9

CHEST

Underdeveloped breast
Widely spaced nipples
Pectus excavatum

10

LYMPHATICS

Prenatal - cystic hygroma
Newborn - neck webbing

11

Is the urinary system effected in Turner?

It can be

12

Is the vision and hearing system effected?

It can be

13

ENDOCRINE

Hypothyroidism
Gonadal dysgenesis

14

Culturally effective medicine equation

Patient's culture + Physician's culture = Effective health outcome

15

TURNER CHALLENGES ACROSS LIFE

Infertility
Stature
Sexual Development
Health and Aging

16

INFERTILITY
Children
Adolescent
Adult
Mature

C - difficulties accepting
Ado - Upset and disappointed, accepted IVF and adoption as alternative
Adu - Biggest challenge
Mature - Missed out :(

17

STATURE
C
Ado
Adu
Mat

C - teasing
Ad - teasing - largest concern
Adu - primary concern apart from infertility
Mat - missed out on being a woman

18

SEX DEVELOPMENT
C
Ado
Adu
Mat

C - whatevs
Ado - "feel different"
Adu - "feel different"
Mat - few concerns

19

HEALTH AND AGING
C
Ado
Adu
Mat

C - none
Ado- few
Adu - osteoporosis, hearing loss, uncertainty
Mat - growing concern with lack of available info

20

Common pitfalls in dislcosure

Secret keeping
Difficulty communicating infertility diagnosis
Perceived negative experiences with physicians

21

Consequence of secret keeping

Depression
Isolation
Fear
Mistrust
Learn about diagnosis in traumatic ways
Delay in self education

22

How do patients want disclosure?

Informative
Compassionate
Sensitive to infertility

23

Approach to DX

Don't be rushed
In person
Open and honest
Attentive and empathetic
Anticipate Qs
Dont be glib
Parental education
Be positive
Support group
YOU DON'T KNOW ALL THE ANSWERS

24

Key points

Infertility can lead to ID crisis
Parents frequently dissatisfied with disclosure
Communication is key