short stature original

8/21/2019 Short Stature Original

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Short Stature


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Definition

Height is >2.5 SD below the mean for age

Height is >2.5 SD below the mean for

that expected based on mid-parental. or:

Height velocity less than 3rdpercentile for

age or less than 4 cm/year at any time

between 5y. and puberty.


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PROCEDURES FOR ACCURATE MEASUREMENT

accurate scale.

Lengthtwo examiners

heightFor older children

Wrong measurements:

Using paper at the foot and head of a supine infant

using a simple wall growth chart with a book or

ruler.

compare with previous, repeat if inconsistent


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Specialized charts

very low birthweight and prematurity

Down Turner

Klinefelter

achondroplasia.


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Z-Score

A Z-score is a measurement of deviation from thenorm.

Its units are standard deviations, so a Z-score of +2

means that the measurement falls two standarddeviations away from the norm.

Anything within 2 standard deviations of the norm

in most scales is fine.

z-scores are a good way to "eyeball" where a givenmeasurement falls.


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Z-Score

68% of the population will fall between +1 and -1 standarddeviation of the average score.

95% will fall between +2 and -2 standard deviations of thescore.

So - if you have a z-score you can estimate your percentilevery roughly as follows:

-3z = 0.1% percentile

-2z = 2.5nd percentile

-1 z = 15th percentile

0 z = 50th percentile

+1z = 84th percentile

+2z = 98th percentile

+3z = 99.9 percentile


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10/1017/31/2014 10


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Severity of Malnutrition and Stunting

GRADE OF MALNUTRITION HEIGHT FOR AGE(STUNTING)

0, normal >95

1, mild 9095

2, moderate 8589

3, severe


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Causes of linear growth

problems congenital

constitutional familial

Endocrine

Nutritional


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In endocrine disorders

length or height declines first or at the

same time as weight;

weight for height is normal or elevated.


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In nutritional insufficiency

weight declines before length

weight for height is low (unless there has

been chronic stunting).


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Congenital

In congenital pathologic short stature:

infant is born small and

growth gradually tapers off throughoutinfancy.

Causes include chromosomalabnormalities (Turner syndrome, trisomy

21), perinatal infection (TORCH),teratogens (phenytoin, alcohol), andextreme prematurity.


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constitutional growth delay

1. Slow linear growth during the first three years

2. Normal (but short) growth velocity during pre-

pubertal years

3. Delayed bone age and sexual maturation

4. Normal adult height (but may be below target)

Often family history of late bloomers

Bone age corresponds to height age


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Familial

In familial short stature:

both the infant and the parents are small

growth runs parallel to and just below the

normal curves.1. Similar growth pattern to constitutional delay.

2. Usually have normal birth weights since nutritionand uterine environment determine birth weight

3. Normal onset of puberty4. Bone age c/w chronologic age

5. Final height is short, but appropriate for parentalheight


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Height-for-age curves of the four general causes of proportional

short stature:postnatal onset pathologic short stature, constitutional

growth delay, familial short stature, andprenatal onset short stature.


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OTHER INDICES OF GROWTH

Body proportions follow a predictable sequence ofchanges with development .

The head and trunk are relatively large at birth, with

progressive lengthening of the limbs throughoutdevelopment, particularly during puberty.

The lower body segmentis defined as the lengthfrom the symphysis pubis to the floor, and the upperbody segmentis the height minus the lower bodysegment.

The ratio of upper body segment divided by lowerbody segment (U/L ratio) equals approximately 1.7 atbirth, 1.3 at 3 yr of age, and 1.0 after 7 yr of age.

Higher U/L ratios are characteristic of short-limbdwarfism or bone disorders, such as rickets.


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SKELETAL MATURATION.

In familial short stature, the bone age is

normal (comparable to chronological

age).

In constitutional delay, endocrinologic

short stature, and undernutrition, the

bone age is low and comparable to the

height age.

Skeletal maturation is linked more

closely to sexual maturity rating than to

chronological age.


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Causes of Short Stature

Genetic IS NICE

I= Idiopathic: constitutional= IUGR

S=Skeletal: dysplasia, osteogenesis imperfecta

=Spinal defects: scoliosis, kyphosis.

N=Nutritional: including malabsorption I = Iatrogenic: steroids, radiation

C = Chronic disease: CHD, CRF, CF, IBD

= Chromosomal: Turner, Down, Seckel syndrome

E=Endocrine: GH def., CAH, hypopituitarism, IDDM

pseudohypoparathyroidism.

G = Genetic.


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Short stature

observation and examination1. INTRODUCE SELF

2. GENERAL INSPECTION

Position patient: standing,

fully undressed

Diagnostic facies

Disproportionate stature .

Tanner staging

Nutritional status

Skeletal anomalies

Colour

Tachypnoea

Skin.

Short stat re


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Short stature

observation and examination3. MEASUREMENTS AND

MANOEUVRESSee separate diagram

4. UPPER LIMBS Structure fingertipsNails

Palms

Pulse

JointsBlood pressure

. 5. HEAD AND NECK Head

Hair

Eyes (full examination) Nose

Mouth and chin

EarsHairtine

Neck (thyroid)

6. CHEST Tanner staging Chestdeformity Precordium Lung fields

7. ABDOMEN

Full abdominal examination

8. GENITALIA

Tanner staging

Anomalies

9. GAIT, BACK AND LOWER LIMBS

Inspect lower limbs

Gait (fun examination)

Back

Lower limbs neurologically

10. OTHER

Urinalysis Stool analysis


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History

Maternal pregnancy

Birth history

Growth history

Family history

Dietary history


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Differential

Variants of Normal

Familial short stature

Constitutional delay

idiopathic Pathologic/Growth Failure

Hormonal

Genetic Systemic

Psychologic


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Familial Short Stature

NL history and PE

Birth weight and

length below 3rd

percentile for GA Family history of short

stature

Growth curve thatparallels 3rdpercentile

nL onset of puberty

Bone age appropriate

for chronological age


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Familial Short Stature


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IUGR

20% of short people had IUGR

Small for gestational age at birth

Slow growth from early infancy

Normal bone age Normal sexual development

Normal PE and lab tests

Normal GH levels

Lower intellect

Normal growth pattern in family


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Endocrine Disorders

Very uncommon causes

GH deficiency, hypothyroidism,

panhypopituitarism, glucocorticoid excess

Usually short, fat child

Start growth hormone labs

If nL, do other tests to rule out steroidexcess such as Cushings

May have delayed bone age


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Isolated GH deficiency

hard to differential from constitutional short

stature

Congenital or acquired

2 peaks for diagnosis

IGF-1 and IGFBP-3 are low

GH provocative testing for diagnosis Do MRI


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Chronic illnesses

Renal disease Nephritis, renal tubular acidosis

GI disease

Celiac disease, Crohns, Cystic Fibrosis

Cardiac disease

Pulmonary disease

HIV

Short stature is maltifactorial Decreased or normal wt/ht ratio

Delayed bone age


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Congenital Syndromes Turners

Most common congenital cause of short stature, XO karyotype Short stature 95%, web neck, low hairline, delayed puberty

Noonans Similar features to Turners, nL karyotype

Short stature 80%

Autosomal dominant genetic disorder

Males, females, 1/2500 births

Prader-Willi 1/16000

Obese, feeding problems

Short children, lack of pubertal growth spurt

Downs Special attention to Turners, can present as short stature only

Order karyotype and refer to geneticist


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Turner syndrome

Most common abnormality in earlyabortion

Female, short stature, primary

amenorrhea, sterility, spares hair andunderdeveloped breast

Neonatal: wide spaced nipple,

lymphedema , shield chest, Coarctation of the aorta


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Continue turner syndrome

Normal IQ scale with difficulty in spatial

orientation such as map

Present with short stature or delay sex

maturation

Hormonal therapy


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continue

Mosaisim (15%), remove gonads

Recurrent risk is 1-2%


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Short stature

Congenital lymphedema

Horseshoe kidney

Patella dislocation

Increased carrying angle of elbowMadelung deformity (chondrodysplasia of distal radial

epiphysis)

Congenital hip dislocation

Scoliosis

Widespread nipples

Shield chest


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Redundant nuchal skin (in utero cystic hygroma)

Low posterior hairline

Coarctation of aorta

Bicuspid aortic valve

Cardiac conduction abnormalities

Hypoplastic left heart syndrome?

Gonadal dysgenesis (infertility, primary amenorrhea)

Gonadoblastoma (if Y chromosome material present)

Learning disabilities (nonverbal perceptual motor and

visuospatial skills) [in 70%]

Developmental delay (in 10%)


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Hypothyroidism (acquired in 1530%)

Type 2 diabetes mellitus (insulin resistance)

Strabismus

Cataract

Red-green colorblindness (as in males)Recurrent otitis media

Sensorineural hearing loss

Inflammatory bowel disease

Celiac disease?


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Turners Growth Curve


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Noonan syndrom

AD, fresh mutation

Pulmonary stenosis,

short stature,

microceph,

mental retardation


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Growth parameters

Size at birth is usually within range.

Short stature in 80% of patients


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Short stature

Failure to thrive

Epicanthal folds

Ptosis

Hypertelorism

Low nasal bridge

Downward slanting palpebral fissures

Myopia

Nystagmus

Low-set auricles


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Dental malocclusion

Low posterior hairline

Short webbed neck

Shield chest

Pectus excavatum or carinatum

Scoliosis

Cubitus valgus


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Pulmonary valve stenosis

Hypertrophic cardiomyopathy

Atrial septal defect (ASD)

Tetralogy of Fallot

Cryptorchidism

Small penis

Bleeding disorders, including thrombocytopenia


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Facial features

Triangular-shaped face Hypertelorism

Down-slanting eyes

Ptosis

Strabismus (48%) Amblyopia (33%)

Refractive errors (61%)

Low-set ears with thickened helices

High nasal bridge

Short webbed neck

Pectus carinatumor excavatum

Scoliosis
http://emedicine.medscape.com/article/1003047-overviewhttp://emedicine.medscape.com/article/1004953-overviewhttp://emedicine.medscape.com/article/1004953-overviewhttp://emedicine.medscape.com/article/1003047-overview


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Prader-willi syndrome

(A fat red faced boy in state ofsomnolency) Charles Diickens

Early hypotonia

Obesity Short stature as adult

Almond shaped blue eyes

Mental retardation (mild tomoderate)

Narrow hands


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Clinical features and signs

PWS affects approximately 1 in 10,000 to

1 in 25,000 newborns

In utero:

Reduced fetal movement

Frequent abnormal fetal position

Occasional polyhydramnios
http://en.wikipedia.org/wiki/Polyhydramnioshttp://en.wikipedia.org/wiki/Polyhydramnios


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At birth

Often breechor C/S

Lethargy

Hypotonia

Feeding difficulties (due to poor muscletone affecting sucking reflex)

Difficulties establishing respiration Hypogonadism
http://en.wikipedia.org/wiki/Breech_birthhttp://en.wikipedia.org/wiki/Lethargyhttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Sucking_reflexhttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Sucking_reflexhttp://en.wikipedia.org/wiki/Hypotoniahttp://en.wikipedia.org/wiki/Lethargyhttp://en.wikipedia.org/wiki/Breech_birth


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Infancy

Failure to thrive(continued feeding

difficulties)

Delayed milestones/intellectual delay

Excessive sleeping

Strabismus Scoliosis(often not detected at birth)
http://en.wikipedia.org/wiki/Failure_to_thrivehttp://en.wikipedia.org/wiki/Hypersomniahttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Strabismushttp://en.wikipedia.org/wiki/Hypersomniahttp://en.wikipedia.org/wiki/Failure_to_thrive


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Childhood

Speech delay

Poor physical coordination

Hyperphagia (over-eating) from age 28 years.Note change from feeding difficulties in infancy

Excessive weight gain

Sleep disorders Scoliosis

Adolescence &
http://en.wikipedia.org/wiki/Speech_delayhttp://en.wikipedia.org/w/index.php?title=Excessive_weight_gain&action=edit&redlink=1http://en.wikipedia.org/wiki/Sleep_disordershttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Sleep_disordershttp://en.wikipedia.org/w/index.php?title=Excessive_weight_gain&action=edit&redlink=1http://en.wikipedia.org/wiki/Speech_delay


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Adolescence &

Adulthood

Delayed puberty

Short stature

Obesity

Infertility (males and females) Hypogonadism

Sparse pubic hair

Hypotonia

Learning disabilities/borderline intellectualfunctioning

Prone to diabetes mellitus
http://en.wikipedia.org/wiki/Obesityhttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Obesity


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Neuro-cognitive

5%: IQabove 85 (average to low average

intelligence)

27%: IQ 7085 (borderline intellectual

functioning) 39%: IQ 5070 (mild intellectual disability)

27%: IQ 3550 (moderate intellectual disability)

1%: IQ 2035 (severe intellectual disability)


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Treatment

Prader-Willi syndrome has no cure,

During infancy, manage feeding problems. Speech and occupational therapy.

During the school years, children benefit from a highlystructured learning environment.

Treat severe obesity. Prescription of daily recombinant growth hormone.

GH supports linear growth and increased muscle mass,and may lessen food preoccupation and weight gain

Because of severe obesity, obstructive sleep apnea is acommon sequela, and a positive airway pressuremachine is often needed.
http://en.wikipedia.org/wiki/Growth_hormonehttp://en.wikipedia.org/wiki/Positive_airway_pressurehttp://en.wikipedia.org/wiki/Positive_airway_pressurehttp://en.wikipedia.org/wiki/Growth_hormone


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Angelman syndrome

Sever mental retardation

Inappropriate laughter

Decrease pigmentation of choroid

or iris (pale blue eyes)

Ataxia and jerky eye movement

Sever speech problem

Deletion of b15q11q13, maternalin origin

Paternal uniparental disomy


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Malnourisment

Starvation, nutritional deficiency, DM type

1, anorexia, malabsorption

Decreased wt/ht ratio

Decreased linear growth and sexual

development, preceded by decreased wt

Adequate nutrition catch up growth


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Malnourishment Curve


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Psychosocial

Truly neglected children, psychosocial

dwarfism

GH deficiency-like picture

Abnormal response to provocative testing

normal growth after removed from

environment


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Idiopathic

normal history, normal physical and labs

Controversy on treatment


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GROWTH HORMONE

DEFICIENCY


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Etiology and Epidemiology

Classic: 1 in 4000 to 10,000 children.

hypothalamicdisease:inadequate GRF.

anatomic defects of the pituitarygland.


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Causes of Growth hormone deficiency

CNS malformations (midline defects)

Hydrocephalus

CNS injuries (birth, forceps)

Meningitis, brain edema

Congenital infections

Hypothalamic or hypophyseal tumors

Cranial radiationCongenital, genetic


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Clinical Manifestations

In congenital GH deficiency:

growth rate slowsafter birth, noticedafter age 2 to 3 years.

elevated weight-to-height ratioandappear chubby and short.

Careful measurements in the first yearof life may suggest the diagnosis.


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high-pitched voice.

normal intellectual growth

Male neonates may have a microphallusfasting hypoglycemia.


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GHR Deficiency/Receptor

(Laron Syndrome)

High GH, low IGF-1

Short stature

Hypoglycemia Poor muscle development

Obesity

Osteoporosis

Can be treated with IGF-1 to correct

growth, and certain metabolic changes


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Diagnosis

GH should be tested for children who are:

1. short(3.5 SDsbelow the mean),

2. growing poorly(


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g

secretionPhysiological tests:

One random sample

Physical activity

Continuous overnight sampling

Continuous 24 hours sampling

Stimulation tests (always two tests):

Insulin iv (hypoglycemia)

Arginine iv

Glucagone iv or imClonidine (oral)

GHRH


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1. GH(useless as a randomdetermination except in GH resistanceor in pituitary gigantism

2. Arginine(a weak stimulus)

3. l-Dopa(Useful clinically)

4. Insulin-induced hypoglycemia(a dangerous but accurate test(

5. Clonidine(useful clinically)

6. IGF1 (affected by malnutrition andGH deficiency)


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Indications for Growth hormone treatment

Main indication:

Growth Hormone Deficiency

Other indications:Turner Syndrome

Renal failure

Prader-Willi Syndrome

Small for gestagional age without catch-upgrowth ?


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The recommended dose of hGH is

0.18

0.3mg/kg/wk SC in 6 or 7 divideddoses during childhood.

Higher doseshave been used duringpuberty.

Maximalresponseto GH occurs in the1styearof treatment.


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It should be continued until near final

heightis achieved.

Criteria for stopping treatment;

- becomes tall enough- bone age >14 yr in girls and >16 yr in

boys.


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COMPLICATIONS AND ADVERSE EFFECTS

OF hGH TREATMENT

1. Leukemia.

2. Pseudotumor cerebri,

3. Slipped capital femoral epiphysis, Gynecomastia,

4. Worsening of scoliosis.

5. Increase in total body water

6. It may increase the risk of type 2 diabetes.

7. In the extracted pituitary GH treatment era,patients were at risk for Creutzfeldt-Jakob(CK)

disease8. Hypothyroidism

adrenal insufficiency.

G th h th


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Growth hormone therapy

Available only as injection

Subcutaneous

Administer after 8.00 pm

3 to 7 times a week

0.15 to 0.3 mg/kg/week

Effect is dose-dependent

G th h th


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Effect reduces with time; esp after 3 years

?Formation of antibodies

?Hypothyroidism

Side effects more common in adults

G th h th


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Response better ifstarted earlier

Average increment =

10 cm/year Better response in

classic GHD

Higher dose needed

in Turner syndrome

1 D fi iti f h t t t


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1. Definition of short stature:

A. Height is >2.5 SD below the mean forage

B. Height is >2.5 SD below the mean for

that expected based on mid-parental

C. Height velocity less than 3rd

percentile for age

D. All are correct

E. A+B only are correct.

1 D fi iti f h t t t


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1. Definition of short stature:

A. Height is >2.5 SD below the mean forage

B. Height is >2.5 SD below the mean for

that expected based on mid-parental

C. Height velocity less than 3rd

percentile for age

D. All are correct

E. A+B only are correct.

2. All are correct for Z-Score


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2. All are correct for Z Score

Except:

A. 68% of the population will fall between+1 and -1 standard deviation of the

average score.

B. 95% will fall between +2 and -2standard deviations of the score.

C. -3z = 0.1% percentile

D. -2z = 5th percentile

E. +1z = 84th percentile

2. All are correct for Z-Score


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Except:

A. 68% of the population will fall between+1 and -1 standard deviation of the

average score.

B. 95% will fall between +2 and -2standard deviations of the score.

C. -3z = 0.1% percentile

D. -2z = 5th percentile

E. +1z = 84th percentile

3. The following is incorrect for


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g

causes of short stature

A. In endocrine causes weight for heightis normal or elevated

B. In nutritional insufficiency weight for

height is lowC. In constitutional there is normal linear

growth during the first 3 years.

D. In congenital growth gradually tapersoff throughout infancy.

E. all of the above are incorrect.



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g

causes of short stature

A. In endocrine causes weight for heightis normal or elevated

B. In nutritional insufficiency weight for

height is lowC. In constitutional there is normal linear

growth during the first 3 years.

D. In congenital growth gradually tapersoff throughout infancy.

E. all of the above are incorrect.

4. Delayed sexual maturation is a


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feature ot the following cause of

short stature:A. constitutional

B. endocrinal

C. congenital

D. familial

E. none of the above

4. Delayed sexual maturation is a


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feature ot the following cause of

short stature:A. constitutional

B. endocrinal

C. congenital

D. familial

E. none of the above



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g

familial short stature:

A. similar growth pattern toconstitutional short stature

B. birth weight is usually normal..

C. normal onset of puberty.

D. delayed bone age.

E. short final height.



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g

familial short stature:

A. similar growth pattern toconstitutional short stature

B. birth weight is usually normal..

C. normal onset of puberty.

D. delayed bone age.

E. short final height.

6. Bone age is delayed in thefollowing cause/s of short


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following cause/s of short

stature:

A. endocrinal

B. nutritional

C. constitutionalD. all of the above

E. A+C only

6. Bone age is delayed in thefollowing cause/s of short


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following cause/s of short

stature:

A. endocrinal

B. nutritional

C. constitutionalD. all of the above

E. A+C only

7. Limbs and trunk are short in the


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following cause of short stature:

A. achondroplasia.

B. Pseudohypoparathyroidism

C. Mucopolysaccharidosis.

D. All of the above

E. None of the above

7. Limbs and trunk are short in the


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following cause of short stature:

A. achondroplasia.

B. Pseudohypoparathyroidism

C. Mucopolysaccharidosis.

D. All of the above

E. None of the above

Stunting with obesity is found isfound in all of the following


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found in all of the following

disorders except:

A. Lourance-Moon-Biedle syndrome

B. Prader-Willi syndrome

C. HypothyroidismD. Hypochondroplasia

E. Growth hormone deficiency.

Stunting with obesity is found isfound in all of the following


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found in all of the following

disorders except:

A. Lourance-Moon-Biedle syndrome

B. Prader-Willi syndrome

C. HypothyroidismD. Hypochondroplasia

E. Growth hormone deficiency.


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short stature original

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