Short stature pdf - رحاب فيصل

Dr. Rihab Faisal

SHORT SATURE

Normal  growth  is  one  of  the  fundamental  characteristics  of  childhood  and
adolescence. Deviation from a normal pattern of growth can be the first manifestation
of  a  wide  variety  of  disease  processes,  and  early  recognition  of  poor  growth  allows
early intervention optimizing the possibility of achieving:

• Good health, and
• Normal adult height

NORMAL GROWTH

Phases of human growth can be divided into:

Prenatal:

Birth  size  predominantly  relating  to  maternal  factors    rather  than  fetal  factors.  It
influenced  by  maternal  nutrition,  maternal  size,  maternal  health,  placental  factors,
intrauterine infection , and endocrine factors (IGF2). It has the fastest growth rate.

Post natal growth: It is more dependent on the infant’s genetic background, and it
influenced predominantly by:

• Infancy : nutrition

• Childhood : thyroxin, GH

• Puberty : GH , sex hormones

GROWTH ASSESSMENT

It is achieved by assessment of the followings:

• Supine lenghth Lt (≤2 yr) using length board with full extension and in a

Frankfurt plane (the line between outer canthus and external auditory meatus is
perpendicular to the long axis of the trunk), or
Standing height Ht (>2 yr) using wall-mounted stadiometer with the back of the
head, thoracic spine, buttocks, and heels, which are placed together, touching
the vertical plane of the stadiometer and in Frankfurt plane.

• Upper segment-to-lower segment ratio (ULR): assess sitting Ht (upper) and

then subtract it from total Ht (lower). Normal U/L ratio is 1.7 at birth, 1.3 at 3
yr, and 1 at 10 yr.

• Arm span: assess the distance between the 2 middle fingers while outstretching

the arms parallel to ground. Normal arm span is about Ht ± 5 cm.

• Weight using beam balance or electronic scale

• OFC, BMI

• Pubertal stage using Tanner staging.

• Midparental height (MPH):

helps to determine if the child is growing well for

the family. It calculated as follow:

for male = (mother ht cm + father ht cm +13)/2

for female = (mother ht cm +father ht cm -13)/2

The range of normal height for the child = MPH ± 10 cm

• Growth velocity GV determines the change in height over time. It is calculated

as the difference in height on two different occasions over 6-12 moths, provided
that Hts had been measured at same time of the day (as normally there is diurnal
variation in the Ht due to fatigue of the spine musculature throughout the day).it
depends on gender, age and pubertal status. Changes in growth velocity allow
earlier  identification  of  growth  problems  as  changes  in  actual  height  are  only
evident  after  growth  velocity  has  been  reduced  for  a  period  of  time.  There  is
specific chart for it, but roughly:

Infancy : 22cm/y

Childhood : 5-7cm/y

Puberty : 10-12 cm/y

Growth charts: accurate age (date of birth) has a crucial role, and growth parameters
should be plotted on a growth charts of the same sex. Classical charts have the
following percentile; 3

or 5

, 10

, 25

, 50

, 75

, 90

, 95

0r 97

. As we don't have

Iraqi growth charts so we depend on CDC or WHO growth charts. Disease-related
growth charts have been developed for Turner syndrome, achondroplasia, and Down
syndrome.

DEFINITIONS

Short stature SS is defined as Ht greater than 2 standard deviations (SDs) below the
mean Ht for sex and chronological age (~ <3

%).

Dwarfism refers to severe forms of SS with Ht below 3 SD from the mean.

If the Ht is within the normal percentile but GV is below 3rd percentile, it is also
considered as abnormal and need same approach as short stature.

CAUSES

• Nonpathologic causes (normal GV)

Genetic (familial) SS.

Constitutional SS.

• Pathologic causes (decrease GV)

Primary growth disorders

o Chromosomal as Turner syndrome, Prader Willi syndrome, SHOX

deficiency, etc….

o Skeletal dysplasia as achondroplasia.
o IUGR.

Secondary growth disorders

o Endocrinopathies

GH deficiency or insensitivity

Hypothyroidism

Cushing

Pseudo or pseudopseudo-hypoparathyroidism

o  Malnutrition.
o  Rickets.
o  Chronic disease.
o  Psychosocial dwarfism.

• Idiopathic SS: ss that can’t be explained by the aforementioned causes ( normal

or decrease GV).

CLASSIFICATION

SS may be classified according to ULR into:

1. Disproportionate SS (high ULR): skeletal dysplasia, rickets, hypothyroidism,

Turner syndrome.

2. Proportionate SS (normal ULR): all other causes.

Genetic (familial) ss:

Normal GV

No systemic illness, normal physical examination.

Ht within MPH

Bone age= chronological age

Normal puberty

Short adult height (reflective of the parents)

Constitutional ss:

Normal birth wt and Ht, decelerated growth 12-30 months of age, by 3 yr of age

begin normal GV.

No systemic illness, normal physical examination.

Ht < MPH

Bone age< chronological age

Delayed puberty

Normal adult Ht (reflective of the parents)

Family history of similar growth pattern

GH deficiency GHD: It may be due to hypothalamic or pituitary dysfunction,
congenital or acquired due to tumor, trauma, infection, irradiation.

Decrease GV.

Ht < MPH

Bone age< chronological age.

short adult Ht (not reflective of the parents)

MANAGEMENT

History:

a detailed history is the key to eliciting the etiology of short stature and

should include the following elements:

• Prenatal history (maternal infection, drugs, smoking,….).

• Birth weight and length in relation to gestational age.

• Family history: FH of ss, age of onset of puberty in parents and immediate

relatives.

• Pubertal development.

• Nutritional history.

• Evidence of systemic disease: gastrointestinal (GI), cardiac, pulmonary, renal,

etc…..

• Drug administration: glucocorticoids.

• Neurologic symptoms: especially headache, visual disturbance, recent history of

enuresis (CNS tumor).

• History of CNS infection, head trauma, irradiation.

• Psychosocial milieu.

Examination:

a comprehensive physical examination should be conducted with

special emphasis on the following:

• Growth assessment as mentioned above.

• Dysmorphic features.

• Examination of the thyroid gland.

• Complete neurological exam including fundoscopy and visual fields.

Three rules of pediatric endocrinology:

1. Tall and overweight = Simple obesity

2. Short and overweight = Endocrine disorders

3. Short and underweight = Chronic illness or malnutrition

Investigations:

1. BA (X ray of hand & wrist) assessment: it estimated from the appearance of the

epiphyses of the left wrist and hand, reflecting physical maturity and may be
considered a sort of “biological age. Itself is not diagnostic but can be used to
aid in arriving at a diagnosis as follow:

Delayed BA: constitutional ss, endocrine causes, malnutrition, chronic diseases.

Appropriate BA: familial ss, syndromes, bone dysplasia.

2. TFT (hypothyroidism), karyotype in female (Turner syndrome), CBC and ESR

(infection, inflammation, anemia), RFT and urine exam (renal disease),
Antitissue transglutaminase Ig A and total Ig A (celiac disease), S. Ca,
phosphate, ALP. If the results of these investigations are normal, proceed to 3.

3. Fasting IGF-1 and GH assay. As the secretion of GH is pulsatile, GH assay

should be basal and after stimulation. Two of the following GH stimulation tests
are required for diagnosis of GHD (clonidine, arginine, insulin, glucagon,
levodopa, propranolol).

4. Pituitary MRI in GHD patient.

Treatment:

• Counseling of parents for physiological causes (constitutional and familial

ss)

• Treatment of underlying cause (hypothyroidism, Cushing, celiac, …….)
• GH therapy: FDA approved indications are:

•  GHD.
•  Turner syndrome.
•  Chronic renal failure before transplantation
•  SGA and lack of catch-up growth by 3-4 yr.
•  Prader Willi syndrome.
•  Idiopathic ss.
•  Noonan syndrome.
•  SHOX deficiency.

Criteria for stopping GH therapy are:

1.  A decision by the patient that she or he is tall enough, or
2.  GV < 1 inch / yr, or
3.  BA > 14 years in girls and >16 years in boys

Side effects GH therapy:

1.  DMT2
2.  Slipped femoral epiphysis
3.  worsening of scoliosis

4.  Psuedotumor cerebi
5.  Gynecomastia
6.  No increase in incidence of leukemia nor recurrence of craniopharyngioma

and other brain tumor, but increase the risk of 2

neoplasm in cancer

survivors.