2A 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:
3Case 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:
4On 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:
5Case Scenario: P/E: Growth Parameters: Height: 120 cm. Weight: 23 Kg. Head Circumference: 52 cm.Case Scenario:
10Case Scenario: P/E: Head & Neck: Chest: Abdomen: 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:
11Case Scenario: P/E: Breast: Pubic Hair: Tanner I. Wide spaced nipples are evident.Pubic Hair:Case Scenario:
12Case 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:
13Case 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:
14An approach to short stature Preseted by: Fahd Alareashi
17A child whose height is below the 3rd percentile for age and sex. Short Stature:A child whose height is below the 3rd percentile for age and sex.
18Slow growth rate regardless of the stature. 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.
29SPECIAL Types of Growth Turner syndrome, Achondroplasia, Down syndromespecial growth charts available for these conditions.These children grow along percentiles specific to their condition.
30Mid-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]2Boys:=[Mother’s Height + Father’s Height + 13]2
36Causes: Most common. Normal Growth Velocity. Non Pathologic. Normal VariantsMost common.Normal Growth Velocity.Non Pathologic.
37Familial Short Stature Causes:Normal VariantsFamilial Short StatureConstitutional Growth Delay
38Familial Short Stature Causes:Normal VariantsFamilial Short StatureShort parents.Born short.Bone age (X-ray): Chronological age.Puberty occurs at time.No treatment is indicated.
39Constitutional Growth Delay Causes:Normal VariantsConstitutional Growth DelayBone age is delayed.Puberty is delayed.Hx. of delayed puberty in parents.Normal adult height.May require short term therapy with androgens/estrogens.
52History: Syndromes? Family History? Down syndrome, Turner syndrome?... Short stature?Chronic illnesses.Neglect? Starvation?
53History: Drug History? Development History? Systemic Review: 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
55Physical 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.
60Investigations: 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.
61Investigations: Ca, P, Alkaline phosphatase. LFTs, RFTs. ESR. Sweat chloride test for cystic fibrosis.
62Investigations: Endocrinal studies: T4, TSH, GH: Basal level. Level after pituitary stimulation: exercises, clonidin or arginin.
66Management: 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 epiphysesTurner syndrome, Noonan syndrome, chronic renal failure.