Tall Stature

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    Tall StatureDr. Kandi Catherine Muze

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    Introduction

    As tall stature becomes more prevalent and moreacceptable, referrals, particularly of tall girls, appear tobe decreasing.

    The referral of a child with tall stature is frequently theresult of parental concern about actual or future finalheight.

    However, knowledge of the pathogenesis, clinical andbiochemical associations and potential treatment of tallstature is clinically relevant.

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    Tall Stature

    a statue of RobertWadlow, who wascalled the Alton giant.

    He was the tallestperson ever recordedand was 8 feet 11inches tall at the time

    of his death.

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    MacCune Albright Syndrome

    Photograph showsa 12-year-old boywith McCune-

    Albright syndrome.His growth-hormone excessmanifested as tall

    stature, coarsefacial features, andmacrocephaly

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    CausesTall stature is usually associated with one of

    three etiological categories:

    Familial advanced growth;

    a syndrome associated with tall stature,

    (which has usually been present since

    infancy);

    abnormal increase in growth rate of

    endocrine origin.

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    Differential Diagnosis

    1. Familial tall stature

    2. Syndromes associated with tall stature: chromosomal defects

    Klinefelters syndrome

    XXXY, XYY syndromes

    overgrowth syndromes Soto's syndrome

    Weavers syndrome

    MarshallSmith syndrome

    BeckwithWiedemann syndrome, hyperinsulinism Marfans syndrome

    MEN 2B

    ACTH resistance

    Homocysteinuria

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    Differential diagnosis

    3. Tall stature of endocrine origin:

    GH secreting pituitary tumour

    precocious puberty Hyperthyroidism

    4. Simple obesity

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    Sotos Syndrome

    Increased birth length

    Increased birth head circumference

    Recognizable facies

    downslanting eyes

    bossed forehead

    prominent jaw

    Hypotonia, clumsiness

    Early puberty

    50% need special education

    Rare, autosomal dominant inheritance

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    Marfans SyndromeAutosomal dominant

    Fibrillin gene defect One in 10 000 birthsArm span 8 cm > heightArachnodactyly Skeletal features

    kyphoscoliosisjoint laxity pectus excavatum

    pes planus High arched palateAortic dilatation, aortic, mitral valve anomalies Myopia, lens dislocation

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    Marfans Syndrome

    Tall stature

    Arm span> Height

    Kyphoscoliosis

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    Beckwith-Wiedenman Syndrome

    Increased birth weight and length

    Growth velocity and bone age advanced duringfirst 46 years

    Macroglossia

    Hemihypertrophy Ear signs

    ear lobe creases (see Chapter 2)

    pits on pinna

    Hypoglycaemia

    Omphalocoele

    Malignancies (e.g. Wilms tumour)

    Learning difficulties

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    Assessment Procedure Height, weight, height velocity

    Heights of parents, siblings

    Birth weight, length, head circumference

    History of previous growth, past medical history

    Intellectual development

    Systematic inquiry

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    Assessment

    Examination for dysmorphic features

    Systematic examination

    Pubertal development staging withmeasurement of testicular volume

    Bone age and final height prediction

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    Baseline Investigation

    Karyotype

    T4, TSH

    IGF-I

    Bone age and final height prediction

    f

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    Investigations for suspected

    GH secreting pituitary adenoma.

    Glucose tolerance test for GH secretion

    MRI scan of pituitary

    Visual fields

    Cortisol (9.00 a.m.)

    Prolactin

    Testosterone, LH, FSH (depending on age)

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    Treatment of GH secreting Pit tumour

    A GH secreting tumour causes tall stature andgigantism in childhood and adolescence, andacromegaly in adult life. An association with

    McCuneAlbright syndrome is recognized.

    Suppression of GH secretion may requirepituitary surgery, radiotherapy, somatostatinanalogue or GH receptor antagonist therapy.

    T t t f f ili l

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    Treatment of familial(constitutional) tall stature

    Sometimes treatment is indicated to try toslow down growth and reduce the finalheight.

    Two forms of therapy are currently used: High dose Sex steroid therapy and

    GH suppressive therapy using a

    somatostatin analogue.NB: In future, GH receptor antagonist

    therapy may be appropriate.

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    Sex-steroid therapy

    Abnormally high circulating levels will

    advance skeletal maturation andeventually cause early epiphyseal fusion.

    De Waal et al:

    In Girls, ethinylestradiol 100300 mg/day orallycombined with cyclical progesterone (i.e.norethisterone 5 mg/day for days 114 of each

    calendar month), if used relatively early,reduced final height by up to 7 cm. In boys,testosterone 2501000 mg monthly caused asimilar reduction.

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    Somatostatin analogue therapy

    Suppression of GH levels shouldtheoretically slow down growth and ifused on long time basis, may reduce finaladult height.

    Hindmarsh et al:use of the somatostatin analogue octreotide ina dosage of 37.550 mg once or twice dailycaused significant decrease in height velocity,with reduction in height prediction of up to 5cm.

    NB:Given by SC inj, may cause gastrointestinal side effects

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    Controversial Points

    The treatment of tall stature in girls iscontroversial.

    High dose oestrogen therapy is rarely practisednow. Treatment with a somatostatin analoguemay be effective but is invasive and associatedwith side effects.

    New therapy using a GH receptor antagonist ispromising but not yet established to bebeneficial.

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    Controversial Points

    As tall stature is better tolerated bysociety, there seems to be less indicationfor therapy.

    Rare conditions, such as GH secretingpituitary tumours, are very infrequently

    seen in paediatric practice. These patientsmust be managed jointly with an adultendocrine unit.

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    Potential pitfalls

    Failure to consider the diagnosis of orexamine the patient carefully fordysmorphic features suggestive of

    Marfans syndrome.

    The diagnosis may have seriousconsequences as these patients need life-long cardiovascular surveillance

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    Potential pitfalls

    Failure to appreciate that tall stature anddelayed puberty are an unusualcombination.

    An important differential diagnosis isKlinefelter syndrome, which should be

    considered.

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    Future developments

    Molecular analysis of tall stature andovergrowth syndromes is likely to identifynew genetic causes of these disorders.