Turner Syndrome

Question 1

Common clinical features of Turner Syndrome

Answer 1

• Short stature
• Increase upper to lower segment ratio
• Shield chest/widely spaced nipples
• Micrognathia
• Cubitus valgus
• Webbed neck
• Cardiac: aortic coarctation, bicuspid aortic valve, HTN
• Infertility
• Ovarian failure: no breast development (spectrum of development); primary and secondary amenorrhoea
• Gonadoblastoma if Y-chromosome mosaicism.
• Renal: collecting system malformations; horseshoe kidney
• Skin: multiple pigmented naevi
• Autoimmune thyroid disease
• Recurrent otitis media, hearing loss
  Eye issues

Question 2

What risks are increased for women with Turner syndrome in pregnancy?

Answer 2

• Increased mortality 2% due to structural cardiac abnormalities, including bicuspid aortic valve, mitral valve prolapse, aortic aneurysm/dilated aortic root. Primary cause of death in pregnancy is aortic dissection and this can occur, even in the absence of any known structural abnormality.
• Gestational HTN and PET
• Miscarriage
• IUGR

Question 3

What investigations would you perform to confirm if a woman has Turner syndrome?

Answer 3

• Karotype

- FISH study to detect Y chromosome mosaicism.

Question 4

What are the main long-term issues for women with Turner syndrome?

Answer 4

• Infertility
• Pregnancy: aneuploidy resulting in miscarriage, aortic dissection, gestational HTN, PET.
• Osteoporosis
• Cardiovascular disease: aortic dissection, HTN
• Thyroid disease
• (Gonadoblastoma)

Question 5

What investigations would you perform to screen and diagnose complications associated with Turner syndrome?

Answer 5

• Renal tract ultrasound, creatinine, urinalysis.
• ECHO or cardiac MRI, ECG
• Diabetes screening: HbA1c or OGTT
• Autoimmune screening: TSH, Coeliac disease screening
• Audiometry

Question 6

What other disciplines would you involve in care of a Turner syndrome woman?

Answer 6

• Cardiology
• Endocrinology
• Gastroenterology
• Nephrologist/urologist
• Fertility
• High risk obstetric

Question 7

Outline management of an adolescent female diagnosed with Turner syndrome:

Answer 7

• Disclosure
• Fertility: can carry pregnancy but unlikely to achieve spontaneous conception; donor oocyte or embryo, adoption or childlessness.
• Pregnancy risks: explain risks and ensure receives preconception counselling and cardiac and renal work up before conception. Under MFM/high risk obstetrics team.
• Puberty induction: gradually increasing oestrogen to mimic normal puberty and breast development around 11-12 years old; add progestin after 2 year for cyclical uterine bleeding and endometrial protection.
• Ongoing HRT until menopause age: reduces risk of vasculopathy and osteoporosis.
• Gonadectomy after puberty if Y chromosome material present.
• Consider contraception when becomes sexually active if does not have complete ovarian failure.
• MDT input

Question 8

Outline management of a pregnant woman with Turner syndrome:

Answer 8

• Preconception counselling
• ECHO and cardiac MRI
• Low dose aspirin: increased risk of PET.
• Serial growth scans: increased risk of IUGR.
• BP monitoring and treatment; PET surveillance.
• MDT input (MFM, cardiologist, anaesthetist) re: birth plan. Ascending ASI >2.5 cm/m2 should have elective CS.