1. GROWTH AND MILSTONE DISORDER
DR Badi AlEnazi
Consultant pediatric endocrinology and diabetolgist

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

3. 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

4. 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

5. 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

6. Growth measurement below 2 years

7. Growth measurement (older children)

9. Infantometer

12. Skeletal Maturation bone 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 patient’s chronologic age

21. 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

22. 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 (Prader–Willi syndrome), puffy hands and feet (Turner syndrome)

23. 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

24. 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

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

26. 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

27. 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

29. ENDOCRINE CAUSES OF GROWTH FAILURE
GH deficiency. (congenital &acquired)
GH resistance.
Panhypopituitarism
Hypothyroidism.
Glucocorticoid excess
Poor controlled DM
Undiagnosed DI
Hypophosphatemic rickets
CAH

30. 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

31. 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)

32. 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

33. Physical Examination
Measure and plot current and prior height and weight.
calculate growth velocity.

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

36. Cushing syndrome

39. PWS

40. growth hormone deficiency

41. 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..

42. Laboratory Studies CBC : Look for anemia or other abnormalities.
ESR and CRP: Elevated in inflammatory conditions.

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

44. 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

45. Laboratory Studies
IGF-1 and IGFBP-3 levels: Screen for GH deficiency and malnutrition.
Urinalysis.

46. Karyotype for Turner syndrome.
Depending on the clinical diagnosis, other studies may be indicated to role out celiac disease; vitamin D–deficiency rickets; cystic fibrosis etc .

47. Imaging Studies Bone age : AP left hand and wrist radiographs
AP and lateral knee radiographs, in children <2 years
Skeletal survey, if indicated (suspected skeletal dysplasia)
MRI of brain with pituitary cuts, if indicated (e.g., if neurologic symptoms or hypopituitarism)

48. 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)
Bone age
Timing of puberty
Normal
short
Adult height

55. The End