Turner Syndrome Presentation to TCGI Conference 2008 Turner

Turner Syndrome Presentation to TCGI Conference 2008

Turner Syndrome o Occurrence 1/2000 – 1/2500 (Rosenfeld 1994) o Characterised: primarily by short stature 95%o o 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 o Prenatal u/s – fluid neck lymphatic system o Birth: characteristic features oedema hands/feet, cardic cond chromosomes o Childhood: short stature cardiac conditions, speech/hearing o Adolescence: no pubertal spurt, no sexual development o Adulthood: failure to menstruate, infertility, premature menopause (have some ovarian function to enter spontaneous puberty)

Chromosome Analysis o Turner syndrome occurs when one of the two X chromosomes is missing, giving 45 X instead of 46 XX o 50% have 45 X in all cells o 20% have mosaic pattern: some cells will have 46 XX, other cells 45 X o 30% have 46 XX where various rearrangements of the 2 nd X, ie ring shape, short p long q arm of X

Growth o Childhood Growth: n n Grow at normal rate for 2 -3 years After 3 -4 years growth rate decreases o Adolescent Growth n n n No pubertal spurt: ovarian failure – no oestrogen TS girls continue to grow late teens Mean final height 139 -147 cm (Ranke 1994)

Ovarian Failure o 14 -16 weeks in utero ovaries develop normally o Decrease in oxytes elements of connective tissue (streaks) begin to occupy ovaries o Wide variation n 10%-20% spontaneous pubertal development 2%-5% spontaneous menses Most not fertile occasional pregnancies have occurred – mosaic type

Key Issue Growth Hormone o Allows girl grow similar to peers o Major positive factor o Ranke suggests from his studies n n 7 year old untreated average 107 cm which is 13 cm shorter than normal mean. On GH, height should improve by 9 cm. 13 year old untreated average 25 cm shorter. On GH, should give height within 4 cm of normal range.

Growth Hormone o Children with TS have a growth deficiency but not a hormone deficiency and therefore have some lack of sensitivity to the hormone. o Growth Hormone Stim Tests normal o Doses higher than those used in GHD o GH is manufactured by recombinant DNA technology to produce a sequence identical to human GH

Growth o GH is given for a few years o Many studies to determine optimal age to commence and discontinue GH o Influence of MPH o GH d/c epiphyes closed – growth complete o Bone Age o GH does improve final height (7 cm)

Management o Common Tests / Clinic Visits o IGF 1 / IGFBP 3 monitor growth o Auxology o Blood pressure o TFTs o LHFSH o Renal o Bone age o Audiology

Optimal Management o Coarctation of aorta usually presents in infancy – surgery o Aortic stenosis less common - surgery o Bicuspid aortic valve 13%-34% - Echo Surveillance & endocarditis prophylaxis o Cardiac Referral Echocardiography at diagnosis o Re-evaluate 10 years o Reassessment – adult transfer

Optimal Management o MRI magnetic resonance angiography be used in addition to echocardiography to evaluate cvs o Advice re pregnancy and exercise where cardiac condition present o Yearly blood pressure

Puberty o GH & Oxandrolone at 9 yrs o Pubertal induction o Puberty should not be delayed to promote increased height o Oral Ethinyloestiodiol n n 11 -12 yrs if on GH easily enough 13 yrs optimal (Donaldon et al) o Importance of complying with long-term oestrogen replacement n n Feminization Bone health in adult years

Education Evaluation o Varies o Hearing check middle ear 50%-85% o Conductive deafness – ear infections – decrease with age o Audiological checks o Sensoneural loss 58% Stenberg 1998 o Impaired visuospatial abilities o Some - difficulty maths

Long Term o Continued monitoring of hearing and thyroid function throughout life o Adults monitored for aortic enlargement, hypertension, diabetes and increased cholesterol & triglycerides

Quality of Life Study o Bannink et al (2005) Netherlands o Normal quality of life in those who reached normal height and had age appropriate pubertal devlopment