Please enable JavaScript.
Coggle requires JavaScript to display documents.
Turner's syndrome (Clinical
presentation (Limbs
Spoon shaped nails
…
Turner's syndrome
-
-
-
Diagnosis
History
Typical clinical features
Delayed puberty, infertility
-
-
Management
Conservative
Information, advice, support
Medical
-
Oestrogen replacement
Indication: time of puberty
MOA; stimulates development of
secondary sexual characteristics
Pathophysiology
Defect
Non-disjunction of sex chromosomes (numerical loss)
or deletion of part of X chromosome
Fertilisation causes 45 XO
No relation to maternal age
Outcome
Ovarian dysgenesis (smear), resulting in
infertility
-
Screening
Antenatal screening programme
Foetal anomaly scan
(neck, hands or pedal oedema, cystic hygroma)
Definition
Genetic disorder of chromosome
umber in females, with 1 X Chr (45 XO)