S H O R T S TAT U R E

Supervised by: Dr. Pooven

Presented by:
Amir Farhan (1129200919452)
Farhanim (1129200919568)
M Omar Hamwi (1129200919503)
Syamil (1129200919453)
Tuan Nur Syahirah Amani
(1129200919460)
Sri Amelia Natasha (1129200919455)
I N T R O D U C T I O N , E P I D E M I O L O G Y & C L A S S I F I C AT I O N

B Y A M I R FA R H A N B I N R I Z A L M A N ( 11 2 9 2 0 0 9 1 9 4 5 2 )
DEFINITION
Short stature is a growth disorder, condition in which an individual's height is growing
below the 3rd percentile when plotting height on standardized growth charts for the mean
height of a given age, sex, and population group.
 It can be assessed through various anthropometric instruments.
 Short stature can manifest in early infancy or at any point in childhood, generally noticed as
puberty begins – at about 10 years old for girls and 11 years old for boys.
 Short stature can be caused by hormonal, genetic, and developmental pathology.
 Can be a sign of disease, disability and social stigma causing psychological stress.

Key Words:
• Height below 3rd percentile
• Height significantly below genetic potentials
• Abnormal slow growth velocity
• Downwardly crossing percentile channels on growth chart (> 18 months age)
GROWTH CHARTS - CDC
IMPORTANT:

• -2SD for age and

gender
• -2SD below mid-
parental target
Abnormal slow growth velocity
Downwardly crossing percentile
channels on growth chart:

• With the exception of the first

two to three years of life and
puberty, crossing percentile lines
is potentially a sign of growth
disturbance.
• Serial measurements showing
unexpected crossing of two or
more percentile lines downwards
is considered to be reflective of
failure to thrive or growth failure.
EPIDEMIOLOGY
In Malaysia:
According to the 2019 National Health and Morbidity Survey, over one in five (21.8 per cent) Malaysian
children below the age of five years old is considered stunted, making this a fairly common condition and
equal to the average for the Asia region (21.8 per cent).

Worldwide Epidemiological Studies in 1990 to 2017:

• In Saudi Arabia, reported that the overall prevalence of moderate short stature was 11.3% in boys and
10.5% in girls, while the prevalence of severe short stature was 1.8% in boys and 1.2% in girls.
• In India, the prevalence of short stature among children was 38.8% and 36.9% in boys and girls.
• In China, a cross-sectional study reported that the prevalence of stunting in the age group 10–18 years
was 23% in 1991, which decreased to 19% in 1993.
• In Pakistan, study stated that the prevalence of short stature was 16.5% among children who are aged
from 6 to12 years
 G R O W T H C H A RT
B Y FA R H A N I M ( 1 1 2 9 2 0 0 1 9 1 9 5 6 8 )
HOW TO DETERMINE IF GROWTH IS NORMAL
1. Physiology of growth
- Hormonal regulation of human growth involves the growth hormone (GH).
- GH promoting somatic growth & in regulating body composition, muscle and bone
metabolism.

2. Growth velocity
Prenatal growth : 1.2 -1.5 cm / week
Infancy :23 – 28 cm / year
Childhood : 5 - 6.5 cm / year
Puberty : 8.3 cm / year (girls),
9.5 cm / year (boys)
3. Genetic potential

M I D - PA R E N TA L H E I G H T ( M P H )

Target height +/- 2SD (10cm)

NORMAL
G R O W T H C H A RT
W H AT I S T H E PAT T E R N O F G R O W T H ?

FAMILIAL
CONSTITUTIONAL
 PHYSIOLOGY OF GROWTH
ENDOCRINE CAUSES OF SHORT
S TAT U R E
By: M Omar Hamwi (1129200919503)
 Growth Hormone also known as somatotrophin
• Produced by the anterior pituitary gland.
GH DIRECT EFFECT GH INDIRECT EFFECT (anabolic)
GH has direct metabolic effects on Stimulate liver to produce insulin-like
tissues by binding to cells growth factors (IGF-1)
1) Production of epithelium & 1) Increase protein synthesis and
connective tissue (bones, cartilage) cell growth
2) Increased lipolysis 2) Increase carbohydrate oxidation
3) Glycogenolysis

Proliferation of chondrocytes in epiphyseal end plates of long bones

Osteoblast conversion of cartilage into bones
Increases bone mass and length
Thyroid Hormone
Metabolic Effects >>>>>>>
- Calorigenic action – increases O2
consumption by all metabolic active
tissues
- Increase BMR and heat production
1) Increased lipolysis
2) Protein metabolism
3) Increased glucose absorption &
utilisation
4) Hepatic gluconeogenesis &
glycogenolysis
5) Hepatic conversion of Carotene to
Vitamin A
Growth Effect
- Necessary for normal GH secretion and tissue
response to GH & IGF-1
- Increases Ossification of bone plates and
maturation of teeth. Growth of teeth and
proportion of body
Other systems:
CNS: development of NS
CVS: Chronotropic & Inotropic
Respi: Increased resting RR as O2
utilisation increases & CO2 production
GIT: increases motility
Reproductive: important for Menstrual cycle
and fertility
Why need to know Endocrine causes?
• Endocrine causes of short statue isn't common but are important to
identify because they can be treated.
• In general, it's suspected in excessive weight for height Or markedly
reduced height velocity.

1) Hypothyroidism (Primary & Central)

2) Growth Hormone Deficiency (Congenital & Acquired)
3) Sexual Precocity (Central & Peripheral)
4) Cushing Syndrome
5) Pseudohypoparathyroidism
Note: Any patient with an abnormality of 1 pituitary hormone (central
hypothyroidism, GH deficiency, Cushing, should be evaluated for other pituitary
hormones deficiencies
Two types of Dwarfism
Hypothyroidism – 1:3000 affected
1) Primary hypothyroidism is most common, with
dysfunction occurring at the level of the thyroid gland
• Congenital - due to a damaged, defective, or absent
thyroid gland
• Acquired - due to Hashimoto thyroiditis
2) Central hypothyroidism: the defect is at the pituitary,
hypothalamus, or hypothalamic portal circulation level

The Hypothalamic-
Pituitary-Thyroid axis
Infants with Undiagnosed Congenital Infants with Longstanding Undiagnosed
Hypothyroidism Acquired Hypothyroidism
Large size at birth Slow height growth
Umbilical hernia Relative weight excess
Delayed stooling Bradycardia
Prolonged indirect jaundice Delayed dentition
Poor feeding Sexual pseudo-precocity
Hypothermia Myxedema
Decreased activity Cool/dry skin
Noisy breathy Brittle nails
Delayed relaxation of deep tendon
Large tongue reflexes
Late Closure of fontanels
Hoarse cry
Developmental delay/Mental retardation
Clinical Manifestation of Hypothyroidism
GH Deficiency (GHD) - 1:4,000 to 1:10,000 affected
1) Congenital (due to genetics structural abnormalities of brain),
affected children present with postnatal growth failure, delayed bone age
and very low serum conc of GH, IGF-binding protein-3.
Can be isolated deficiency or combined pituitary hormones deficiencies
(ACTH, TSH, gonadotropin)
Present with hypoglycaemia, prolonged neonatal jaundice, hypotonia and
macropenis in boys, midline defects (cleft lip)
2) Acquired – due to
intracranial tumor (craniopharyngioma),
cranial irradiation and head trauma
Increased secretions of gonadal steroids (estradiol/testosterone) -
which can lead to:
1) Sexual Precocity
2) Accelerated epiphyseal maturation – causing rapid childhood
growth but more rpaid advancement of bone age. (Children will
be initially tall but short as adults due to early closure of
epiphyseal plates) Clinical Recognition Of Precocious Puberty

Precocious Puberty: Onset of

secondary sexual characteristics
in a child <8 years​
Incidence: Estimated to be 1:5000
to 1:10,000 with a female to
male ratio of 10:1​
Cushing Syndrome – caused by excessive glucocorticoid
Characterised by combination of weight gain and growth retardation resulting
in excessive weight-for-height
1) Endogenous Cushing Syndrome – Due to Corticotropin (ACTH)-secreting
pituitary adenoma OR adrenal adenoma- Rare in children.
Can be differentiated using High dose Dexamethasone Suppression Test
2) Exogenous Cushing Syndrome: due to long term exogenous use of
glucocorticoids e.g. due to asthma, Nephrotic Syndrome, IBD.
Pseudohypoparathyroidism (PHP) - Autosomal Dominant
• Rare inherited disorder characterized by
target organ resistance or
unresponsiveness to parathyroid
hormone (PTH).
• The syndrome mimics
hypoparathyroidism with patients
experiencing hypocalcemia and
hyperphosphatemia.
• Clinical Manifestation:
brachydactyly (short fingers), short
statue, early-onset
obesity, neurodevelopmental deficits
NON-
ENDOCRINE
CAUSES
By: MUHAMMAD SYAMIL
(1129200919453)
Non-endocrinological causes of short stature can be divided into :-
a) Variations of normal which includes genetic or familial and constitutional delay of growth
b) Small for gestational age or extreme prematurity
c) Psycosocial Dwarfism
d) Syndromes of short stature
e) Nutritional or long term ilnesses/ Chronic Disease
f) Skeletal dysplasias
g) Storage disorders
• Few studies had been done and based on their studies most of the causes for short stature
mainly due to variations of normal but still there is not enough studies to support that.
• Notably, there are no published studies regarding the causes of short stature in Malaysian
children
• VARIATIONS OF NORMAL
• Familial/ Genetic (FSS)
• Familial short stature (FSS) is a condition in which the final adult height achieved is less than the third percentile for the patient's
age, gender, and population. Nevertheless, it is consistent with parental height in the absence of nutritional, hormonal, acquired,
genetic, and iatrogenic causes.
• Normal growth velocity & normal bone age
• pubertal maturation is normal.
• If there is deviation from the growth curve , further
evaluation is needed
• Constitutional delay in growth and puberty (CDGP)
• Also called as late bloomers
• slowing growth velocity during the first 3 years after
birth, typically with both weight and height crossing
growth percentiles downward;
• A normal or near normal growth velocity, with height below but parallel to the 5th percentile during prepubertal years
• Delayed bone age and pubertal maturation
• Adult height usually within the normal range, although occasionally lower than expected for parental height.
• Final height, although usually within the normal population range
• There is usually a family history of delayed growth and puberty but normal height as adults
BA = BONE AGE, CA = CHRONOLOGICAL AGE
• Small for gestational age and extreme prematurity
• About 10% of children born small for gestational age or who were extremely premature remain short.
• The majority (88%) of 'healthy' full-term
singleton SGA infants achieved catch-up
growth during the first 2 years of life,
and most of the increase in height
occurred by 2 months of age.
• Gh treatment may be indicated if there
is insufficient catch-up growth by 4 years of age.
• Programming of the endocrine axes
occurs during critical phases of fetal
development and is affected by
intrauterine growth retardation
• Low spontaneous gh secretion rate and A disturbed gh secretion pattern, together with low serum levels of
igf-i, igfbp-3 and leptin, might contribute to the reduced postnatal growth in some of the subgroup of children
born sga who remained short during childhood
SYNDROMES OF SHORT STATURE
• Turner syndrome
• It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal
dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall
stature.

• Noonan syndrome
• Between 50 and 70 percent of individuals with
Noonan syndrome have short stature.
• At birth, they are usually a normal length and
weight, but growth slows over time.
• Abnormal levels of growth hormone, a protein that is
necessary for the normal growth of the body's bones
• and tissues, may contribute to the slow growth.

• Autosomal trisomy (13,18 & 21)

• Short stature is a cardinal sign of Down's syndrome. Complicating disorders, such as coeliac disease, hypothyroidism, and
growth hormone deficiency may aggravate the growth retardation
• Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder.
• five fundamental characteristics including retinitis pigmentosa, polydactyly, obesity, and hypogonadism and mental retardation
• Laurence-Moon syndrome (LMS) and Bardet-Biedl syndrome (BBS) are usually referred to as a single syndrome but these are
two distinct entities
• Congenital heart diseases and nephropathy are more pronounced in BBS
• Prader-willi syndrome
• Results from a defect on chromosome 15 due to paternal deletion, maternal
uniparental disomy (20-25%), or imprinting defect.
• Prader-willi syndrome (PWS) is a complex neurodevelopmental disorder
characterized by infantile hypotonia and feeding difficulty, short stature, small hands
and feet due to growth hormone deficiency, hypogonadism, mental deficiency,
behavioral problems and hyperphagia leading to obesity in early childhood
• Ninety percent of patients with PWS have short stature
• Cornelia de lange syndrome
• Cornelia de lange syndrome (cdls) is a rare genetic condition
that affects growth and development and can range from mild
to severe which causes slow growth before and after birth
leading to short stature; intellectual disability
• Cornelia de lange syndrome likely affects 1 in 10,000 to 30,000 newborns
• Variants in the nipbl, smc1a, hdac8, rad21, and smc3 genes cause cornelia de lange syndrome by impairing the
function of the cohesin complex, which disrupts gene regulation during critical stages of early development.
Variants in other genes are also thought to disrupt the regulation of genes important for development.
• Russell-silver syndrome
• Russell-silver syndrome (SRS) is a genetic
disorder characterized by antenatal and postnatal
growth failure with unknown etiology
• As stated, most cases are of unknown etiology,
but about 38% were found to have hypo
methylation in chromosome’s 11p15’s imprinting
center 1. Also, 7 to 10% of patients carry a
maternal uniparental disomy of chromosome 7
• The US food and drug administration (FDA)
approved the use of somatropin (hgh) therapy for
children with SRS
• CHRONIC DISEASES (Nutritional/long-term illness)
• Deficiency of nutrients or malnutrition will interfere with growth hormones such as lack of protein,
zinc, vitamins resulting in low Insulin-like Growth Factor I (IGF-1) and Growth Hormone (GH). Low
concentrations of these hormones can inhibit linear growth until weight growth stops. Inadequate
nutrition may be due to insufficient food, restricted diets or poor appetite associated with a long-term
illness.
• Chronic illnesses that may present with short stature include:
• Coeliac disease, which usually presents in the first 2 years of life, but can present late with faltering
growth. Coeliac disease may result in short stature without gastrointestinal symptoms
• Crohn’s disease
• Chronic kidney disease – may be present in the absence of a history of renal disease
• Cystic fibrosis – malabsorption, recurrent infections, increased work of breathing, and reduced
appetite
• Congenital heart disease due to increased work of breathing.
SKELETAL DYSPLASIAS
• Achondroplasia is the most common skeletal dysplasia found in humans,
accounting for 90% of cases of disproportionate short stature
• Common clinical presentations of skeletal dysplasia are growth retardation, whether proportionate or disproportionate, large
or small head, short arm and trunk, anomalies of the hands and feet, chest anomalies such as pear-shaped chest and narrow
thorax, and recurrent fracture.
• Osteogenesis imperfecta
• Osteogenesis imperfecta is a heritable disorder of collagen I
metabolism with generalised involvement of connective tissue.
• Short stature is frequent in osteogenesis imperfecta type I and often
severe in types III and IV.
• Osteogenesis imperfecta is caused by an abnormal metabolism of
collagen I, which is the major protein constituent of bone matrix but
the cause of short stature is more likely to be found at the osteoblast level.
Unresponsiveness of osteoblasts to normal growth factors or defective
osteoblastic/bone matrix feedback on the growth hormone–IGF-I axis have been suggested
• Osteohcondrodysplasias
• Osteochondrodysplasias involve abnormal bone or cartilage growth, leading to skeletal maldevelopment, often short-
LYSOSOMAL STORAGE DISEASE
• Lysosomal storage disorders is a rare storage disease as a group have a frequency of about 1/8000 live births
• Mucopolysaccharidoses
• Defect in the degradation of glycosaminoglycans,
The mechanism behind short stature in patients
with MPS I is not completely known, but is most
likely a secondary characteristic resulting from
structural, metabolic, and endocrine abnormalities.
• These diseases are characterised by short trunk
dwarfism, skeletal dysplasia and mostly
preservation of intelligense with an onset of
symptoms at 2-4 years of age
• Mucolipidoses
• The mucolipidoses diseases are due to the simultaneous lysosomal storage of lipids together with water-
soluble substances.
REFERENCES

• Rani D, Shrestha R, Kanchan T, et al. Short Stature. [Updated 2023 Mar 13]. In:
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023
Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK556031/

• Lund AM, Müller J, Skovby F Anthropometry of patients with osteogenesis

imperfecta Archives of Disease in Childhood 1999;80:524-528.

• Seema, Abbas, S., Ahsan, M. N., & Asghar, M. S. (2022). Frequency of skeletal
dysplasia in children with short stature presenting to endocrine clinic: An
observational study. Journal of family medicine and primary care, 11(6), 3143–
3147. https://doi.org/10.4103/jfmpc.jfmpc_2393_21
H I S T O R Y TA K I N G , P H Y S I C A L
E X A M I N AT I O N & I N V E S T I G AT I O N
O F A P P R O A C H T O S H O R T S TAT U R E
By: Tuan Nur Syahirah Amani binti Tuan Ibrahim (1129200919460)
 H I S T O R Y TA K I N G & P H Y S I C A L
E X A M I N AT I O N
History taking • Familial history
 Onset:  Familial short stature, constitutional delay
 Prenatal infancy, toddler, pre-pubertal, pubertal  Familial chronic disease
 Health booklet for growth measurements in  Birth history
early childhood and school goings years, birth  Antenatal issues (eg: SGA, IUGR, Intrauterine
history
infection, GDM, etc)
 Nutrition history
 Postnatal progress (eg: prematurity,
 24H dietary diary, quality and quantity nutrient
hypogylcemia, etc)
intake
 Social history
 Feeding issues
 Home and family environment
 Picky eater
 Neglect / abuse
 Frequent vomiting
 Milk / food allergies • Review system: Symptoms like cardiac, respiratory,
§ Past medical history/ pre-existing chronic disease GI, renal, neurological, musculoskeletal problems ,
§ and social.
Drug history (eg: steroid / substance abused)
Physical examination
 Dysmorphic features
 Turner, Down, Prader willi, etc
 Growth hormone deficiency features

 Measurement of height (supine length & standing

height) and weights
• Weight > height: Fat and short – endocrine
• Weight < height: but both below the chronological age with
thin and and short- under nutrition / chronic illness

 Growth velocity
 Body proportion
• Lower segment (LS): pubic symphysis to floor in standing
• Upper segment: Height – LS

 Comparison with population norms (by growth chart )

 Comparison with child’s own genetic potential (mid-
parental height (MPH))
§ Systemic examination
Ø Examination of spine; eg:
scoliosis
Ø Signs of thyroid disease
Ø Pubertal staging
Ø CNS including visual fields, for
sign of hypothalamic tumors.
Ø Other system include skin,
finger, nails and toes.
H

• h
S E CO N D S T E P
• h
B O N E AG E ( B A ) :

• Bone age assessment should be done in all children with short stature
• Degree of bone age aid in distinguishing between various class of growth disorder.
• They do by taking single x-ray image of the left wrist, hand and finger. Then image is
compared with X-ray image in standard atlas of bone development (eg: Greulich and Pyle
Atlas)
• Growth plates : areas new bone growths. They add length and width to the bone, it can be seen on an X-
ray because they're softer and contain less mineral, making them appear darker on an X-ray image than
the rest of the bone. Bones and growth plates change over time. As kids grow, the growth plates look
thinner on X-rays and eventually disappear. Doctors assign a child’s bone age based on which standard
X-ray images in the atlas most closely match how the child's bones look on the X-ray.
• The initiation of puberty usually coincides with a bone age around 10.5–11 years in girls and 11–
11.5 years in boys
• Girls reach skeletal maturity at a bone age of 15 years and boys when bone age is 17 years
• Bone age can be used to predict:
 how much time a child will be growing
 when a child will start puberty
 what the child’s final height will be
• The test also can help doctors monitor progress and guide treatment of kids with conditions that
affect growth, including:
 diseases that affect the levels of growth hormones, such as growth hormone deficiency,
hypothyroidism, precocious puberty, and adrenal gland disorders
 genetic growth disorders, such as Turner syndrome
 orthopedic or orthodontic problems in which the timing and type of treatment (surgery, bracing,
etc.) are guided by the child's expected growth
THIRD STEP (L ABORATORY

INVESTIGATION)

Level 1 (essential investigation)

• CBC, ESR
• Urinalysis (microscopy, pH and osmolality)
• Stool (parasites, steatorrhea / occult blood)
• Blood (renal function test, calcium phosphate, alkaline
phosphatase, venous gas, fasting sugar, albumin and
transaminases)
• Skeletal imaging for bone age
Level 2 Level 3

• Serum TSH, FT4 • Celiac serology (anti-

• Karyotype (Turner’s Syndrome in Girls)
endomysial or TTG antibodies)
• Duodenal biopsy
# If above investigations are normal and
height between -2 to -3 SD, then observe • Growth hormone assay:
height velocity for 6-12 months  Stimulation tests
# If height <3 SD, proceed to level 3
 Serum IGF-1, IGFBP-3
investigations
• .
REFERENCES
• https://karger.com/hrp
/article/72/4/206/369978/Diagnostic-Approach-in-Children-with-S
hort-Stature

• https://www.ncbi.nlm.nih.gov
/books/NBK556031/#:~:text=Anthropometric%20measurements%
3A%20Short%20stature%
20can,age%2C%20sex%2C%20and%20population.
• https://www.researchgate.net
/publication/321127215_Approach_to_a_Patient_with_Short_Stat
ure
 MANAGEMENT OF
SHORT STATURE
BY: SRI AMELIA NATASHA
BT ZULKIFLI
• Hypothyroidism
Levothyroxine
• Limb lengthening procedures
Skeletal dysplasia
• Counselling of parents
for physiological causes
genetic / familial short stature
constitutional delay of
growth and puberty
• Dietary advice
Undernutrition
Celiac disease
 NICE Guidelines

G H T R E AT M E N T

W H O C A N H AV E H U M A N G R O W T H H O R M O N E ( S O M AT R O P I N ) ?

• Growth hormone deficiency

• Turner syndrome
• Prader Willi syndrome
• Chronic renal insufficiency
• Growth failure at 4 years or older and were born
small for gestational age
• Short stature homeobox-containing gene (SHOX)
Treatment with somatropin should be discontinued if any of the following
apply:
• growth velocity increases less than 50% from baseline in the first year of
treatment
• final height is approached and growth velocity is less than 2 cm total
growth in 1 year
• there are insurmountable problems with adherence
• final height is attained.
SIDE EFFECTS OF GH
• Headache
• visual problems
• nausea and vomiting
• fluid retention (peripheral oedema)
• Arthralgia
FINAL HEIGHT
• myalgia
• growth hormone deficiency 8–11 cm
• Turner syndrome 5 cm
• CRI 3–9 cm
• Prader–Willi syndrome 10–11 cm)
REFERENCES

1. Essential Pediatrics, 7th Edition, OP Ghai;

Fima Lifschitz- Pediatric Endocrinology.
2. https://www.uptodate.com/contents/growth-fail
ure-in-children-with-chronic-kidney-disease-c
kd-treatment-with-growth-hormone

3. NICE Guidelines Human Growth Hormone