Preseted by: Fahd Alareashi & ?????????? Pediatrics Seminar Preseted by: Fahd Alareashi & ??????????

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:

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:

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.

Case 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:

Case Scenario: P/E: Breast: Pubic Hair: Tanner I. Wide spaced nipples are evident. Pubic Hair: Case Scenario:

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:

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:

An approach to short stature Preseted by: Fahd Alareashi

Short Stature Outlines Definition Growth Charts Causes Approach Management

Short Stature Outlines Definition Growth Charts Causes Approach Management

A 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.

Slow 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.

Short Stature Outlines Definition Growth Charts Causes Approach Management

Short Stature Outlines Definition Growth Charts Causes Approach Management

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.

Different Types of Growth Charts: Male Growth Charts Weight-for-Age Height-for-Age Weight-for-Height Different Types of Growth Charts: HC-for-Age

Different Types of Growth Charts: Female Growth Charts Weight-for-Age Height-for-Age Weight-for-Height Different Types of Growth Charts: 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. “ CONSTITUTIONAL GROWTH DELAY “ Stature

Stature Normal growth rate. Short stature in childhood. Short stature in adults. “ Familial Short Stature“ Stature

“ Acquired Pathologic Short Stature“

SPECIAL Types of Growth Turner syndrome, Achondroplasia, Down syndrome special growth charts available for these conditions. These children grow along percentiles specific to their condition.

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 of: short stature

Short Stature Outlines Definition Growth Charts Causes Approach Management

Short Stature Outlines Definition Growth Charts Causes Approach Management

Causes: Normal Variants Pathologic

Causes: Normal Variants Pathologic

Causes: Most common. Normal Growth Velocity. Non Pathologic. Normal Variants Most common. Normal Growth Velocity. Non Pathologic.

Familial Short Stature Causes: Normal Variants Familial Short Stature Constitutional Growth Delay

Familial Short Stature Causes: Normal Variants Familial Short Stature Short parents. Born short. Bone age (X-ray): Chronological age. Puberty occurs at time. No treatment is indicated.

Constitutional Growth Delay Causes: Normal Variants Constitutional Growth Delay Bone age is delayed. Puberty is delayed. Hx. of delayed puberty in parents. Normal adult height. May require short term therapy with androgens/estrogens.

Causes: Normal Variants Pathologic

Causes: Normal Variants Pathologic

Prenatal “ Primordial “ Causes: Pathologic Prenatal “ Primordial “ Postnatal

Prenatal “ Primordial “ Causes: Pathologic Prenatal “ Primordial “ All parameters are affected; Height, weight, & head circumference. IUGR. Chromosomal: Down syndrome, Turner syndrome. Skeletal dysplasia. Proportionate

Psychosocial neglect: Causes: Pathologic Postnatal Endocrine: GH deficiency. Hypopituitarism. Cushing syndrome. Chronic Diseases: Cyanotic congenital heart diseases. Celiac diseases, IBD, cystic fibrosis. Chronic infections. Chronic renal failure. Psychosocial neglect: Height > Weight “Short & Fat” Weight > Height “Short & Skinny” Weight & Height are decreased Proportionate

Causes: Disproportionate Postnatal Achondroplasia. Rickets. Pathologic Postnatal Achondroplasia. Rickets. Hypothyroidism. Disproportionate

Short Stature Outlines Definition Growth Charts Causes Approach Management

Short Stature Outlines Definition Growth Charts Causes Approach Management

Approach & Assessment of: short stature

Assessment History Taking

History: Antenatal History: Delivery: 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? Family History? Down syndrome, Turner syndrome?... Short stature? Chronic illnesses. Neglect? Starvation?

History: 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

Assessment Physical Examination

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.

Assessment Investigations

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.

Short Stature Outlines Definition Growth Charts Causes Approach Management

Short Stature Outlines Definition Growth Charts Causes Approach Management

mANAGEMENT

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.

THE END….