Turner Flashcards
Turner Syndrome Karyotype
45,XO
CVS
Bicuspid aortic valve Coarctation of the aorta Systemic hypertension Long QT Partial anomalous pulmonary venous connection Persistent left SVC
EYE
Inner canthal folds
Ptosis
Blue Sclera
SKELETAL
Cubitus Vulgus
Short 4th metacarpal
Short stature
NECK
Webbed
Low Hairline
Cystic Hygroma
LEARNING
Difficulty in math
Visual spacial skills
Low Non verbal scores
If we inactivate an X, why does Turner’s exist?
Because associated with region that is pseudoautosomal
PAR1
PAR2
ENT
Prominent auricles,
Low set ears
High narrow palate
Small amndible
CHEST
Underdeveloped breast
Widely spaced nipples
Pectus excavatum
LYMPHATICS
Prenatal - cystic hygroma
Newborn - neck webbing
Is the urinary system effected in Turner?
It can be
Is the vision and hearing system effected?
It can be
ENDOCRINE
Hypothyroidism
Gonadal dysgenesis
Culturally effective medicine equation
Patient’s culture + Physician’s culture = Effective health outcome
TURNER CHALLENGES ACROSS LIFE
Infertility
Stature
Sexual Development
Health and Aging
INFERTILITY Children Adolescent Adult Mature
C - difficulties accepting
Ado - Upset and disappointed, accepted IVF and adoption as alternative
Adu - Biggest challenge
Mature - Missed out :(
STATURE C Ado Adu Mat
C - teasing
Ad - teasing - largest concern
Adu - primary concern apart from infertility
Mat - missed out on being a woman
SEX DEVELOPMENT C Ado Adu Mat
C - whatevs
Ado - “feel different”
Adu - “feel different”
Mat - few concerns
HEALTH AND AGING C Ado Adu Mat
C - none
Ado- few
Adu - osteoporosis, hearing loss, uncertainty
Mat - growing concern with lack of available info
Common pitfalls in dislcosure
Secret keeping
Difficulty communicating infertility diagnosis
Perceived negative experiences with physicians
Consequence of secret keeping
Depression Isolation Fear Mistrust Learn about diagnosis in traumatic ways Delay in self education
How do patients want disclosure?
Informative
Compassionate
Sensitive to infertility
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
Key points
Infertility can lead to ID crisis
Parents frequently dissatisfied with disclosure
Communication is key
