Transcript Group Attachment

Turner Syndrome
Presentation to TCGI Conference 2008
Turner Syndrome
 Occurrence 1/2000 – 1/2500 (Rosenfeld 1994)
 Characterised: primarily by short stature 95%

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100%
Prenatal or early postnatal premature ovarian
failure (gonadal dygenesis)
Physical features
Associated problems
Studies by Stanhope & Fry 1995: intelligence
distribution same as general population
Diagnosis
 Prenatal u/s – fluid neck lymphatic system
 Birth: characteristic features oedema
hands/feet, cardic cond chromosomes
 Childhood: short stature cardiac conditions,
speech/hearing
 Adolescence: no pubertal spurt, no sexual
development
 Adulthood: failure to menstruate, infertility,
premature menopause (have some ovarian
function to enter spontaneous puberty)
Chromosome Analysis
 Turner syndrome occurs when one of
the two X chromosomes is missing,
giving 45X instead of 46XX
 50% have 45X in all cells
 20% have mosaic pattern: some cells
will have 46XX, other cells 45X
 30% have 46XX where various
rearrangements of the 2nd X, ie ring
shape, short p long q arm of X
Growth
 Childhood Growth:
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Grow at normal rate for 2-3 years
After 3-4 years growth rate decreases
 Adolescent Growth
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No pubertal spurt: ovarian failure – no
oestrogen
TS girls continue to grow late teens
Mean final height 139-147cm (Ranke
1994)
Ovarian Failure
 14-16 weeks in utero ovaries develop normally
 Decrease in oxytes elements of connective
tissue (streaks) begin to occupy ovaries
 Wide variation
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10%-20% spontaneous pubertal development
2%-5% spontaneous menses
Most not fertile occasional pregnancies have
occurred – mosaic type
Key Issue Growth Hormone
 Allows girl grow similar to peers
 Major positive factor
 Ranke suggests from his studies
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7 year old untreated average 107cm which
is 13cm shorter than normal mean. On
GH, height should improve by 9cm.
13 year old untreated average 25cm
shorter. On GH, should give height within
4cm of normal range.
Growth Hormone
 Children with TS have a growth
deficiency but not a hormone deficiency
and therefore have some lack of
sensitivity to the hormone.
 Growth Hormone Stim Tests normal
 Doses higher than those used in GHD
 GH is manufactured by recombinant
DNA technology to produce a sequence
identical to human GH
Growth
 GH is given for a few years
 Many studies to determine optimal age
to commence and discontinue GH
 Influence of MPH
 GH d/c epiphyes closed – growth
complete
 Bone Age
 GH does improve final height (7cm)
Management
 Common Tests / Clinic Visits
 IGF1 / IGFBP3 monitor growth
 Auxology
 Blood pressure
 TFTs
 LHFSH
 Renal
 Bone age
 Audiology
Optimal Management
 Coarctation of aorta usually presents in
infancy – surgery
 Aortic stenosis less common - surgery
 Bicuspid aortic valve 13%-34% - Echo Surveillance & endocarditis prophylaxis
 Cardiac Referral Echocardiography at
diagnosis
 Re-evaluate 10 years
 Reassessment – adult transfer
Optimal Management
 MRI magnetic resonance angiography
be used in addition to echocardiography
to evaluate cvs
 Advice re pregnancy and exercise where
cardiac condition present
 Yearly blood pressure
Puberty
 GH & Oxandrolone at 9 yrs
 Pubertal induction
 Puberty should not be delayed to promote
increased height
 Oral Ethinyloestiodiol
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11-12 yrs if on GH easily enough
13 yrs optimal (Donaldon et al)
 Importance of complying with long-term
oestrogen replacement
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Feminization
Bone health in adult years
Education Evaluation
 Varies
 Hearing check middle ear 50%-85%
 Conductive deafness – ear infections –
decrease with age
 Audiological checks
 Sensoneural loss 58% Stenberg 1998
 Impaired visuospatial abilities
 Some - difficulty maths
Long Term
 Continued monitoring of hearing and
thyroid function throughout life
 Adults monitored for aortic enlargement,
hypertension, diabetes and increased
cholesterol & triglycerides
Quality of Life Study
 Bannink et al (2005) Netherlands
 Normal quality of life in those who
reached normal height and had age
appropriate pubertal devlopment