Turners

Question 1

Other congenital abn

Answer 1

Trisomy 18 EDWARDS- microceph, flex, rocker feet
Trisomy 13 PATAU- midl defects incl CHD
Noonans autos domin

Question 2

Px

Answer 2

Puffy feet and hands due to lymphoedema
Redundant skin at back of neck
Short stature or slow growth
Ovarian cortical stroma devoid of germ cell elements- so infert and amenorrhea 
Intellect fine but social and psychomotor skills can be affected
Somet behav diffics at school
CHD- coA, pulm sen, aortic sten, bicusp AV
Feeding and sleep diffics as baby
Hearing loss and OM
HTN
AI disorders
Obesity
Aortic dilat/dissec
Thyroiditis
OP

Question 3

Karyotype

Answer 3

45XO

Question 4

ix for congenital abn

Answer 4

Antenatal- USS, chorionic villous sample 10-12wk, amniocentesis 15-20wk, downs triple test, now NIPT maternal blood test.
Bloods- routine, karyotype, microarray
XR, USS, MRI/CT, echo

Question 5

Mx

Answer 5

Monitoring- 
kidn malformation
CHD
Hearing loss
OP
Obesity
DM
Atherogenic lipids
Coeliac
Growth and puberty
Meds-
Growth hormone
Oestrogen and progestogen

Question 6

Dysmorphia

Answer 6

Eyes- epicanthic folds, oblique palperbral fissure, ptosis, squint, nystag, cataract, amblyopia, hypermetropia
Ears- low set, post rotated, upturned lobules, deafness
Mouth- micrognathia, high palate
Neck- short, webbed, low hairline
Chest- broad, pectus excav, inverted, hypoplastic, wide nips
Jnts- cubitus valgus, congenital hip dysplasia
Hands- short 4/5 MC, short fingers, nail convex, nail fold oedema
Skin- lymphoedema, telang, vitiligo, keloid, seborr derm, alopecia

Question 7

Ix

Answer 7

Chrom analysis
LH and FSH high
TFT, thyr Ab
HBa1c
UE and renal USS
ECG, echo
Bone age and density
Hearing test

Question 8

diffs

Answer 8

Noonans
Delayed puberty
Short stature