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

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

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

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

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

Growth measurement below 2 years

Growth measurement (older children)

Infantometer

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

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

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)

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

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

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

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

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

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

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

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)

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

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

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

Cushing syndrome

PWS

growth hormone deficiency

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..

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

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

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

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

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 .

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)

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

The End