• A 10-year-old girl presents to the clinic with her parents. • Her parents report that she is the shortest in her class. • However, they have become concerned because her 8-year-old sister is now the same height as she is. • The patient has not yet attained menarche and her mother reports no breast development. • She has been well with no chronic medical problems, no hospitalizations, and no surgeries. CASE SCENARIO: • She lives with her mother, father, and sister . • She is currently in the fifth year elementary school and she always scores grade A. • Her mother is 173 cm (5'8") and weighs 68 kg (150 pounds). She had menarche at age 12. • The patient's father is 185 cm (6'1") and weighs 95 kg (210 pounds). • There is no family history of any medical problems. CASE SCENARIO: • On further history, you find that your patient was 43 cm (17 inches) long at term (average is 49.5 cm, 19.5 inches). • P/E: • General: • Conscious. • Looks girl. • No apparent distress. • Vital signs: • • • • Temperature: 37◦ C. Pulse: 90 bpm. BP: 100/60 mmHg. RR: 18 breaths/min. CASE SCENARIO: • P/E: • Growth Parameters: • Height: 120 cm. • Weight: 23 Kg. • Head Circumference: 52 cm. CASE SCENARIO: Stature Weight H.C. Wt-for-Ht. • P/E: • Head & Neck: • Neck is supple and webbed. • Low posterior hair line. • Chest: • Heart: Normal S1 & S2, No additional sound. • Lungs are clear. • Abdomen: • Soft. • No masses. CASE SCENARIO: • P/E: • Breast: • Tanner I. • Wide spaced nipples are evident. • Pubic Hair: • Tanner I. CASE SCENARIO: • INVESTIGATIONS: • Her growth chart is reviewed which demonstrates: • an average growth velocity: 3cm/year. • Bone age: • 8 years & 6 months. • CBC: normal. • ESR: normal. • TFT's: normal. • UA: normal. • Serum electrolytes: normal. CASE SCENARIO: • INVESTIGATIONS: • Chromosomal analysis: • 45 XO. • ► Diagnosis of Turner Syndrome is made. • She is referred for a renal ultrasound, cardiology evaluation, and a hearing screen. • She is also seen by the pediatric endocrinologist and is started on growth hormone. CASE SCENARIO: SHORT STATURE: • A child whose height is below the 3rd percentile for age and sex. GROWTH FAILURE: • Slow growth rate regardless of the stature. • Ultimately, a slow growth rate leads to short stature. •A Growth Chart is used to show: • A child's current height. •Growth Velocity : how fast the child is growing. GROWTH CHARTS: • Growth charts are a standard part of any checkup. • They show health care providers how kids are growing compared with other kids of the same age and gender. MALE GROWTH CHARTS Weight-for-Age DIFFERENT TYPES OF GROWTH CHARTS: Height-for-Age Weight-for-Height HC-for-Age FEMALE GROWTH CHARTS Weight-for-Age DIFFERENT TYPES OF GROWTH CHARTS: Height-for-Age Weight-for-Height HC-for-Age GROWTH CHARTS: • Assessment: •Short Stature: Height < 3rd percentile. •Growth Failure: • Height crossing 2 major percentiles. •Low growth velocity: Rate < 25th percentile. • Short stature with normal growth rate and delayed growth spurt with eventual achievement of normal adult stature. Stature “ CONSTITUTIONAL GROWTH DELAY “ •Normal growth rate. • Short stature in childhood. •Short stature in adults. Stature “ Familial Short Stature“ Stature “ Acquired Pathologic Short Stature“ MID-PARENTAL HEIGHT: • Children are usually in a percentile between their parents' height. • The Expected Height of the child as adult lies between ± 5 cm from the Mid-parental age: Girls: = [Mother’s Height + Father’s Height - 13] 2 Boys: = [Mother’s Height + Father’s Height + 13] 2 CAUSES: CAUSES: CAUSES: CAUSES: CAUSES: CAUSES: CAUSES: CAUSES: CAUSES: Prenatal “ Primordial “ Postnatal CAUSES: Prenatal “ Primordial “ •All parameters are affected; Height, weight, & head circumference. •IUGR. •Chromosomal: Down syndrome, Turner syndrome. •Skeletal dysplasia. Proportionate CAUSES: Postnatal • Endocrine: •GH deficiency. •Hypopituitarism. •Cushing syndrome. Height > Weight “Short & Fat” • Chronic Diseases: •Cyanotic congenital heart diseases. •Celiac diseases, IBD, cystic fibrosis. •Chronic infections. •Chronic renal failure. Weight > Height “Short & Skinny” Proportionate • Psychosocial neglect: Weight & Height are decreased CAUSES: Postnatal •Achondroplasia. •Rickets. •Hypothyroidism. Disproportionate HISTORY: • Antenatal History: • IUGR? • Any complications: pre-eclampsia, hypertension, anemia, maternal history of smoking, alcohol & infections, drugs? • Delivery: • • • • • Gestational age? Mode of delivery? APGAR score. Complications? Hypoglycemia. HISTORY: • Nutritional History? • Symptoms suggesting systemic chronic diseases: • • • • • • Dyspnea? Sweating with feeding? Recurrent respiratory infection? Chronic diarrhea? Fatigue, cold intolerance? “hypothyroidism” Recent weight gain, acne, mood swing? “Cushing” HISTORY: • Syndromes? • Down syndrome, Turner syndrome?... • Family History? • Short stature? • Chronic illnesses. • Neglect? Starvation? HISTORY: • Drug History? • Corticosteroids? • Insulin? • Development History? • Delayed? • Systemic Review: • A complete review of systems needs to be undertaken in order to help exclude an undiagnosed syndrome or chronic medical condition PHYSICAL EXAMINATION: • Vital Signs. • Anthropometric Measurements: • Height: • Plotted on growth chart. • Height velocity growth chart in the 6 – 12 months. • Nutritional Assessment: • Mid arm circumference. • Weight for age and weight for height. PHYSICAL EXAMINATION: • Vital Signs. • Anthropometric Measurements: • Proportionate / Disproportionate: • Upper / lower segment ratio. • Arm span minus Height. PHYSICAL EXAMINATION: • Vital Signs. • Anthropometric Measurements: • Calculate Mid-parental Age: Girls: = [Mother’s Height + Father’s Height - 13] 2 Boys: = [Mother’s Height + Father’s Height + 13] 2 PHYSICAL EXAMINATION: • Dysmorphic Features? • Down Syndrome? Turner Syndrome? • Single palmar crease, webbed neck, low hairline,.. • Moon face “Cushing”? • Puberty Assessment (Tanner Staging): • Examinations for systemic illnesses. INVESTIGATIONS: • Bone age. • Wrist X-ray for rickets: • Skeletal survey for skeletal dysplasia: • a series of X-rays of all the bones in the body, or at least the axial skeleton and the large cortical bones. • Karyotyping. INVESTIGATIONS: • Ca, P, Alkaline phosphatase. • LFTs, RFTs. • ESR. • Sweat chloride test for cystic fibrosis. INVESTIGATIONS: • Endocrinal studies: • T4, TSH, • GH: • Basal level. • Level after pituitary stimulation: exercises, clonidin or arginin. MANAGEMENT: • Non-pathological short stature: • No treatment is required. • Pathologic short stature: • Manage the underlying cause. • Growth Hormone GH: • GH Therapy if the following criteria are met: • GH shown to be deficient by 2 different stimulation tests. • Patient is short, insufficent growth velocity, <3rd percentile. • Bone age x-rays show unfused epiphyses • Turner syndrome, Noonan syndrome, chronic renal failure.