Routes to parenthood for women with Turner Syndrome TOG 2018 Flashcards
What is the most common sex chromosome aneuploidy in women?
Turners syndrome 45 XO
Most common genetic condition leading to subfertiltiy
Klienfelters
Incidence of turners
1:2500 - 1:3000
High proportion miscarry
Is the risk of turners related to maternal age?
No
Karotype of TS?
45 XO
or if Mosaic 46XX, 45XO
Feature of TS
Cardiovascular features seen in Turners
Coarctation of aorta 12%
Bicuspid aortic valve 30%
Aortic dilatation/dissection 1/3rd >20mm/m2
Screening for women with turners
Height/weight/BMI
BP - both arms
Annual cardiac MRI
Renal and pelvic USS
Coeliac screen ever 5 years
Audiogram every 3-5 years
DM, TFT, lipid renal, LFT annually
DEXA every 3-5 years
Effect of TS on ovary
Most present with primary amenorrhoea
If spont menarche (often mosaic TS) - often POI
- accelerated atresia of primordial follicles
Effect of TS on uterus and how should this be managed?
If primary amenorrhoea, infantile dimensions of uterus - must induce puberty with HRT to mimimic physiology.
Before starting HRT measure serum FSH/LD to exclude delayed puberty onset
Risk to mother and baby if pregnancy in TS
Mother - Hypothyroid, GDM, HTN, aortic dissection (1%)
Baby Miscarriage, PTB, LBW/SGA
When is the greatest risk of aortic dissection in prengnacy>
3rd trimester/postpartuiim
Pregnancy is contraindicated for which cardiac conditions seen in turners.
Aorta has an absolute diameter >35mm or 25mm/m2
previous aortic surgery
uncontrolled HTN
What % of turners syndrome will have natural birth?
8%
Risk of miscarriage with TS
31-45%
