Turner

Question 1

Turner Syndrome Karyotype

Answer 1

45,XO

Question 2

CVS

Answer 2

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

Question 3

EYE

Answer 3

Inner canthal folds
Ptosis
Blue Sclera

Question 4

SKELETAL

Answer 4

Cubitus Vulgus
Short 4th metacarpal
Short stature

Question 5

NECK

Answer 5

Webbed
Low Hairline
Cystic Hygroma

Question 6

LEARNING

Answer 6

Difficulty in math
Visual spacial skills
Low Non verbal scores

Question 7

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

Answer 7

Because associated with region that is pseudoautosomal
PAR1
PAR2

Question 8

ENT

Answer 8

Prominent auricles,
Low set ears
High narrow palate
Small amndible

Question 9

CHEST

Answer 9

Underdeveloped breast
Widely spaced nipples
Pectus excavatum

Question 10

LYMPHATICS

Answer 10

Prenatal - cystic hygroma

Newborn - neck webbing

Question 11

Is the urinary system effected in Turner?

Answer 11

It can be

Question 12

Is the vision and hearing system effected?

Answer 12

It can be

Question 13

ENDOCRINE

Answer 13

Hypothyroidism

Gonadal dysgenesis

Question 14

Culturally effective medicine equation

Answer 14

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

Question 15

TURNER CHALLENGES ACROSS LIFE

Answer 15

Infertility
Stature
Sexual Development
Health and Aging

Question 16

INFERTILITY 
Children
Adolescent
Adult
Mature

Answer 16

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

Question 17

STATURE
C
Ado
Adu
Mat

Answer 17

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

Question 18

SEX DEVELOPMENT
C
Ado
Adu
Mat

Answer 18

C - whatevs
Ado - “feel different”
Adu - “feel different”
Mat - few concerns

Question 19

HEALTH AND AGING
C
Ado
Adu
Mat

Answer 19

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

Question 20

Common pitfalls in dislcosure

Answer 20

Secret keeping
Difficulty communicating infertility diagnosis
Perceived negative experiences with physicians

Question 21

Consequence of secret keeping

Answer 21

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

Question 22

How do patients want disclosure?

Answer 22

Informative
Compassionate
Sensitive to infertility

Question 23

Approach to DX

Answer 23

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

Question 24

Key points

Answer 24

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