GROWTH AND MILSTONE DISORDER

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GROWTH AND MILSTONE DISORDER

• DR Badi AlEnazi
• Consultant pediatric endocrinology and
  diabetolgist

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• Phases of growth
• Growth measurement
• Growth chart
• Growth hormone
• Bone age
• Short stature
• Tall stature
• Developmental delay

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• Growth is a dynamic process influenced by many
  intrinsic and extrinsic factors that interplay to
  determine ultimate attained height
• Careful tracking of childhood growth is a
  sensitive indicator of health and well-being, and
  therefore an essential component of sound
  pediatric care

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Phases of Normal Growth

• In utero, growth affected by
• insulin and insulin-like growth factors 1 (IGF-1)
  and 2 (IGF-2). nutrition,
• At birth
• Normal weight 3 kg
• Normal length 50 cm
• Normal HC 35 cm

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Phases of Normal Growth

• normal growth velocity for children until the
  pubertal growth spurt.
• First 12 months 25 cm
• Second year 12 cm
• Third year approximately 8 cm
• Later childhood until puberty (5 to 10 years)
  growth averages 5 to 6 cm/year

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Growth measurementbelow 2 years
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Growth measurement (older children)
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Infantometer
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Skeletal Maturationbone age

• Skeletal maturation is assessed by examination of
  a bone age(BA) film, which is a radiograph of
  the left hand
• can assess the bone maturation of multiple
  ossification centers and compare it to standard
  male or female radiographs. The BA can then be
  compared to the patients chronologic age

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Definition

• short stature is defined as a standing height
  more than 2 standard deviations (SDs) below the
  mean (or below the 3rd percentile) for age and
  gender

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• History
• Reason for referral
• History of growth problem
• Time of fi rst concerns about stature, change in
  stature over time
• Birth size in relation to gestation weight,
  length, head circumference
• Pubertal development age of onset and
  progression of secondary sexual characteristics
• Pregnancy and perinatal events
• Clues to growth retardation in utero from
  infections, drugs, smoking, alcohol
• Gestation, vertex or breech presentation, mode of
  delivery, condition at birth
• Postnatal problems such as hypoglycemia
  (congenital hypopituitarism), jaundice
  (congenital hypothyroidism or hypopituitarism),
• fl oppiness and feeding diffi culty (PraderWilli
  syndrome), puffy hands and feet (Turner syndrome)

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• Medical history
• Problems associated with specific syndromes such
  as Turner syndrome
• Symptoms of an endocrine disorder such as
  hypothyroidism
• Symptoms of tumor around the pituitary gland
• Systemic illness
• Treatments that can impair growth (e.g.
  corticosteroids, radiotherapy, methylphenidate)
• Developmental problems in specifi c areas such as
  speech, hearing, learning, vision

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• Psychosocial history to determine the impact of
  short stature on the child
• Self-image and parents perceptions
• Teasing/bullying at school
• School adjustment
• Personality, emotional and behavioral problems

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• Family history
• Heights of parents and siblings
• Age of onset of puberty in parents
• Consanguinity, affected family member, known
  inherited conditions

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• Examination
• Measurements weight, standing height, sitting
  height, head circumference
• Height in relation to previous heights (height
  velocity), parents heights, stage of puberty,
  weight
• Genitalia and pubertal development
• Body composition subcutaneous fat and muscle
  bulk
• Unusual or dysmorphic features in face, eyes,
  nose, ears, mouth, hairline, neck, upper limbs,
  hands, palms, fi ngers, nails, feet or skin
• Signs of specifi c syndromes such as Turner or
  Noonan syndrome

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• Signs of specific endocrine disorders such as
  hypothyroidism, growth hormone deficiency or
  corticosteroid excess
• Signs of a congenital (e.g. septo-optic
  dysplasia) or acquired (e.g. craniopharyngioma)
  lesion affecting the hypothalamus, pituitary
• (and growth hormone secretion) and the optic
  chiasm visual fi elds, fundi, pupils, squint,
  nystagmus, acuity
• Signs of chronic systemic disease

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ENDOCRINE CAUSES OF GROWTH FAILURE

• GH deficiency. (congenital acquired)
• GH resistance.
• Panhypopituitarism
• Hypothyroidism.
• Glucocorticoid excess
• Poor controlled DM
• Undiagnosed DI
• Hypophosphatemic rickets
• CAH

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History

• Time of first concerns about stature
• Birth weight, length, head circumference
• Maternal illnesses or pregnancy complications
• History of any perinatal complications (e.g.,
  traumatic delivery, perinatal asphyxia

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History

• Dietary History
• History of chronic/systemic illnesses or frequent
  hospitalizations (e.g., cystic fibrosis, IBD, or
  anemias requiring transfusion)
• Medication history (e.g., history of systemic
  glucocorticoid therapy)

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History

• Pubertal development age of onset and
  progression of secondary sexual characteristics
  for patient and family
• Family history
• Heights of parents and siblings
• Age of onset of puberty in parents
• Consanguinity, affected family member,
  known inherited conditions

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Physical Examination

• Measure and plot current and prior height and
  weight.
• calculate growth velocity.

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• General physical examination Look for dysmorphic
  features or sign of systemic illness (e.g.,
  aphthous ulcers, truncal adiposity, rachitic
  rosary etc.)

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Cushing syndrome
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PWS
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growth hormone deficiency
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Measurement of growth

• Always measure Ht without shoes, and when
  plotting the patient in the growth curve, be
  accurate regarding the actual age of the child..

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Laboratory Studies

• CBC Look for anemia or other abnormalities.
• ESR and CRP Elevated in inflammatory conditions.

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• Serum electrolytes, blood urea nitrogen (BUN)
  and creatinine levels, calcium, phosphate, and
  alkaline phosphatase levels Screen for renal
  dysfunction and calcium homeostasis.

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Laboratory Studies

• Total protein, albumin,, and transaminase levels
  in evaluation of potential synthetic defects,
  inflammation/injury, and cholestasis.
• TSH and f T4 levels.
• Stool for ova, parasite

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Laboratory Studies

• IGF-1 and IGFBP-3 levels Screen for GH
  deficiency and malnutrition.
• Urinalysis.

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• Karyotype for Turner syndrome.
• Depending on the clinical diagnosis, other
  studies may be indicated to role out celiac
  disease vitamin Ddeficiency rickets cystic
  fibrosis etc .

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Imaging Studies

• Bone age
• AP left hand and wrist radiographs
• AP and lateral knee radiographs, in
  children lt2 years
• Skeletal survey, if indicated (suspected
  skeletal dysplasia)
• MRI of brain with pituitary cuts, if indicated
  (e.g., if neurologic symptoms or hypopituitarism)

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Differential features of familial and
constitutional short stature
Constitutional delay Familial short stature Feature
Average Small (one or both) Parents' stature
Delayed On time Parents' puberty
Slow N Growth (puberty)
Delayed N Bone age
Delayed N Timing of puberty
Normal short Adult height
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The End
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