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Turner Syndrome

Turner Syndrome. Presentation to TCGI Conference 2008. Turner Syndrome. Occurrence 1/2000 – 1/2500 (Rosenfeld 1994) Characterised: primarily by short stature 95%-100% Prenatal or early postnatal premature ovarian failure (gonadal dygenesis) Physical features Associated problems

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Turner Syndrome

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  1. Turner Syndrome Presentation to TCGI Conference 2008

  2. Turner Syndrome • Occurrence 1/2000 – 1/2500 (Rosenfeld 1994) • Characterised: primarily by short stature 95%-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

  3. 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)

  4. 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

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

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

  7. Key Issue Growth Hormone • Allows girl grow similar to peers • Major positive factor • Ranke suggests from his studies • 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.

  8. 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

  9. 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)

  10. Management • Common Tests / Clinic Visits • IGF1 / IGFBP3 monitor growth • Auxology • Blood pressure • TFTs • LHFSH • Renal • Bone age • Audiology

  11. 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

  12. 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

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

  14. 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

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

  16. 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

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