Transcript An approach to short stature

• 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.