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SHORT STATURE: EVALUATION

DR. A.B.M. KAMRUL HASAN

MD THESIS PART (EM)

DEPT. OF ENDOCRINOLOGY, BSMMU

rangassmc@gmail.com

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NOTICED SINCE LONGTIME……………..

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Family seeks medical attention for their short child

•Shorter than their younger sibling•Shortest in their class•Gets teased •Bullied /treated differently in school•Size not meet expectations•Impediment to sports•Want to be sure nothing WRONG•SHORT STATURE CAUSING DISTRESS•Severity of height deficit•Degree of tolerance/ acceptance•Child’s coping skills

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“HOW TALL ARE YOU ?” instead of “WHAT IS YOUR HEIGHT”

• Sandy Allen (7ft ½ inch) never married• George W. Bush only the fourth major

presidential candidate to succeed over a taller opponent

• Girls referred half as boys and were significantly shorter

• Americans specialists prescribed 13x more GH to boys for identical case scenarios

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•Short stature imposes psychosocial stress

• How short is too short ???• Does short stature warrant medical treatment?

• A treatment approach based on suffering , rather than height , has been proposed

• CAUTION whether rhGH treatment for healthy short stature children construes medical or cosmetic treatment

• Whether this is an appropriate means of resource allocation on a

societal level !

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A child with short stature

Three criterias-• Height more than 3.5 SD below the mean for

chronological age• Growth rate more than 2 SD below the mean for

chronological age• Height more than 2 SD below the target height

when corrected for mid-parental height

Regulation of growth

• Endocrine factors:• GH & IGF• Thyroid hormones• Sex steroids• Glucocorticoids

• Other factors:• Genetic factors• Socioeconomic factors• Nutritional factors• Psychological factors• Chronic disease

Regulation of growth

Normal human growth can be divided into three overlapping stages each under the control of different factors:

1. Infancy:o largely under nutritional regulationo wide inter-individual variation in rates of growth o many infants show significant ‘catch-up’ or ‘catch-down’

in weight and lengtho by 2 years, length is much more predictive of final adult

height than at birth

Regulation of growth2. Childhood:o growth hormone (GH) and thyroxineo mini-growth spurts with intervening stasis, each phase lasting

several weekso Over years, a child will tend to maintain their centile position

on height charts, with a height velocity between the 25th and 75th centiles

3. Puberty:o The combination of GH and sex hormones promotes bone

maturation and a rapid growth acceleration or ‘growth spurt’.o in both sexes, oestrogen eventually causes epiphyseal fusion,

resulting in the attainment of final height.

Sex differences

• Adult heights differ between ♂ and ♀ by, on average, 13cm

• However, during childhood, onset of the pubertal growth spurt is earlier in ♀, who are therefore, on average, taller than ♂ between the ages of 10–13 years.

Assessment of growth

• To minimize error in the calculation of height velocity (cm/year), height measurements should be taken

• at least 6 months apart• using the same equipment and • Ideally by the same person.

Height measurements

• From birth to 2 years old, supine length is measured ideally using a measuring board (e.g. Harpenden neonatometer).

• Two adults are needed to ensure that the child is lying straight and legs extended.

Height measurements

• From 2 years old, standing height is measured against a wall-mounted or free-standing stadiometer

• Without footwear• Heels & back touching the wall• Looking straight ahead • Gentle but firm pressure upwards

applied to the mastoids from underneath

• US / LS ratio• Horizontal Arm span

Growth Velocity

• Height more than 3.5 SD below the mean for chronological age- pathological short stature

• 3rd percentile is only at 2 SD below the mean• Dx should not be base on a single measurement• Serial measurements- allow determination of

growth velocity• Varies at different ages• Growth rate <5 cm per year between the ages of

4 yrs to the onset of puberty is abnormal

Mid-Parental Height (MPH)

• MPH is an estimate of the child’s genetic height potential and is calculated as:

[(Mother’s ht + Father’s ht) / 2] + 7cm (for boys) or – 7cm (for girls)

• It can be used to estimate a child’s expected final height • there is a wide target range (MPH ± 10cm for boys and

± 8.5cm for girls)• more commonly used to assess whether the child’s

current height centile is consistent with genetic expectation

Bone Age

• Skeletal maturation proceeds in an orderly manner from the first appearance of each epiphyseal centre to the fusion of the long bones.

• From chronological age 3–4 years, bone age may be quantified from radiographs of the NON DOMINANT (left) hand and wrist by comparison with standard photographs (e.g. Greulich and Pyle method) or by an individual bone scoring system (e.g. Tanner–Whitehouse method).

• The difference between bone age and chronological age is an estimation of tempo of growth.

Bone Age

• The initiation of puberty usually coincides with a bone age around 10.5–11 years in girls and 11–11.5 years in boys, although the correlation between bone age and pubertal timing is approximate.

• Girls reach skeletal maturity at a bone age of 15 years and boys when bone age is 17 years

• Thus, bone age allows an estimation of remaining growth potential and can be used to aid in the prediction of final adult height.

Bone Age

Delayed Bone Age

• Constitutional short stature• Hypothyroidism• Celiac disease• GH deficiency• Corticosteroid Rx

CAUSES OF SHORT STATUREPhysiological short stature

• familial• constitutional delay of growth and puberty

Pathological short statureSystemic diseases

Chronic anaemia Congenital heart diseaseChronic renal failure Chronic severe infectionChronic asthma MalabsorptionRTA Chronic liver disease

Under nutritionPsychosocial dwarfism

Endocrine disordersGH deficiency / insensitivityHypothyroidism Cushing syndromePseudohypoparathyroidismDisorders of vitamin D metabolismDiabetes mellitusDiabetes insipidus

Prematurity & SGASkeletal dysplasiasGenetic syndrome and enborn error of metabolism

SHORT STATURESHORT STATURE

DysmorphicDysmorphic NormalNormal

•Turner syndrome•Noonan’s•Downs syndrome•Prader Willi•Pseudo- hypoparathyroidism•Russle Silver

•Turner syndrome•Noonan’s•Downs syndrome•Prader Willi•Pseudo- hypoparathyroidism•Russle Silver

ProportionateProportionate Dis-ProportionateDis-Proportionate

•Constitutional•Familial / Genetic•IUGR•Ch Malnutrition•Celiac Disease•Chronic systemic disease (CRF, CLD)•GH Deficiency•Hypogonadism•Hypothyroidism

•Constitutional•Familial / Genetic•IUGR•Ch Malnutrition•Celiac Disease•Chronic systemic disease (CRF, CLD)•GH Deficiency•Hypogonadism•Hypothyroidism

•Osteogenesis imperfecta•Achodroplasia•Rickets•Metabolic and storage disorders (short spine)

•Osteogenesis imperfecta•Achodroplasia•Rickets•Metabolic and storage disorders (short spine)

Approach to a child with short stature

• History • Physical examination • Height of the child• Height of parents• Plotting on growth chart• Workup

History

• Who is concerned, child or parents?• What are the parental heights?• Has the child always been small or does the history suggest

recent growth failure? Try to obtain previous measurements (e.g. from parents, GP, health visitor, school).

• Ask about maternal illness in pregnancy, drug intake and possible substance abuse in pregnancy, gestation at delivery, size at birth (weight/length/head circumference), childhood illnesses, medication, and developmental milestones.

• Systematic enquiry for headaches, visual disturbance, asthma/respiratory symptoms, abdominal symptoms, and diet.

• Is there a family history of short stature or pubertal delay?• What are the psychosocial circumstances of the child and the

family?

Examination• Measured & charted height and height velocity over at

least 6 months.• Arm span, US:LS• Measured & charted weight & BMI• Assess for the presence and severity of chronic disease.

Low weight for height suggests a nutritional diagnosis, GI cause, or other significant systemic disease.

• Pubertal stage using Tanner’s criteria.• Observe for dysmorphic features and signs of

endocrinolopathy• Signs of syndromes, midline defects• Neurological examination• Measure parents’ heights, and calculate MPH.

Laboratory Evaluation

• CBC, ESR• Liver & Kidney

function tests• S. Electrolytes• Urinalysis• TSH, FT4• IGF-1, IGFBP-3• S. Prolactin

• Karyotype• 24 hr UFC, overnight

DST• Radiology: MRI Brain,

USG Pelvic organs• Celiac panel• GH (provocation

tests)• Genetic testing

Constitutional delay of growth and puberty

• Often presents in adolescence but may also be recognized in earlier childhood, more prevalent in ♂.

• Characteristic features: short stature and pubertal delay by >2 SD,

and/or bone age delay in an otherwise healthy child In the adolescent years, short sitting height

percentile, compared to leg length, is typical

Constitutional delay of growth and puberty

• There is often a family history of delayed puberty• Bone age delay usually remains consistent over

time and height velocity is normal for the bone age. Final height may not reach target height.

• GH secretion is usually normal, although provocation tests should be primed by prior administration of exogenous sex hormones if bone age is >10 years.

Primary GH deficiency

• Infancy:

may present with hypoglycaemia Coexisting ACTH, TSH, and gonadotrophin

deficiencies may cause prolonged hyperbilirubinaemia and micropenis

Size may be normal, as fetal and infancy growth is more dependent on nutrition and other growth factors than on GH.

Primary GH deficiency

• Childhood:

Slow growth velocity, short stature, decreased muscle mass, and increased SC fat.

Underdevelopment of the mid facial bones, relative protrusion of the frontal bones because of mid-facial hypoplasia, delayed dental eruption, and delayed closure of the anterior fontanelle may be seen.

These children have delayed bone age and delayed puberty.

Hypothyroidism

• In childhood, hypothyroidism may present with growth failure alone

• Intellectual problems• Typical features uncommon• Bone age is often disproportionately delayed.• Very rarely, early puberty may occur.• Most cases of childhood hypos are autoimmune

Figure: A height chart for boys. Child A illustrates the course of a child with hypopituitarism, initially treated with cortisol and thyroxine, but showing growth only after growth hormone treatment. Child B shows the course of a child with constitutional growth delay without treatment.

Growth chart of CDGP

Growth chart of GH deficiency

Growth chart of Hypothyroidism

Growth chart of IBD

Thank You