Growth Problems in Children

Short Stature

Short stature is a general term used to describe a condition in which a child’s height falls well below what is typical for his or her age and sex. Doctors consider a child to be of short stature if the height is less
than the 3rd percentile on the growth chart.13
If a child’s height is less the 3rd percentile, it means that the child is shorter than 97% of other children of the same age and sex.
Being short can be a normal variation of growth. A child can be significantly shorter than his or her friends and still be healthy.
The majority of children with short stature have normal
variations of growth, such as:13
Familial Short StatureConstitutional Delay of Growth and PubertyIdiopathic Short Stature
Some children are short because their parents are short. This is called familial short stature. Children with familial short stature grow at a normal rate and tend to follow their family’s inherited height.13

A child with constitutional delay will take a longer time to reach puberty than other children but eventually attain normal adult height. There is often a history of similar “late bloomers” in one or both parents and other family members.13

A short child may be diagnosed with idiopathic short stature when all possible causes associated with short stature have been investigated, and no identifiable disorder can be found.13

Growth Disorders

For a small number of children, short stature may be caused by an underlying growth disorder.
Growth
Hormone Deficiency
Small For
Gestational Age
Turner
Syndrome
Prader-Willi
Syndrome
Idiopathic
Short Stature

Incidence

Growth hormone deficiency is a rare cause of growth failure in which the child does not make enough growth hormone to grow normally. About one in 4000 to 10000 children have growth hormone deficiency.14

Causes

The causes of growth hormone deficiency may be congenital or acquired.14 Some children are born with growth hormone deficiency (congenital growth hormone deficiency) while others develop growth hormone deficiency in later childhood (acquired growth hormone deficiency).14 Congenital growth hormone deficiency may be caused by genetic defects or structural abnormalities of the pituitary gland.14 Acquired growth hormone deficiency may be the result of brain tumors, surgery or radiation therapy, inflammatory disease, or infection to brain.14 In about 50% of the children with growth hormone deficiency, the cause is unknown (idiopathic).15

Characteristics

Congenital growth hormone deficiency is associated with normal birth length, followed by a decrease in growth rate that becomes obvious by 1‒2 years of age. In infancy, congenital growth hormone deficiency can lead to low blood sugar (hypoglycaemia) and seizures.11 A child with growth hormone deficiency will be much shorter than most children of the same age and sex and have a flat or slow growth rate.5 Short stature may be the only feature present.16

Diagnosis

Growth hormone deficiency is diagnosed based on a combination of clinical assessment and growth measurements, blood tests to measure hormone levels, X-ray of the hand and wrist to assess bone age, tests for genetic mutations, and brain MRI to rule out pituitary abnormalities.16

Treatment

Patients with proven growth hormone deficiency should be treated with growth hormone replacement therapy as soon as possible after the diagnosis has been made.16

Definition

Small for gestational age (SGA) is a term used to describe newborn infants whose size is below the normal range for the number of weeks of pregnancy.17

SGA may be caused by circumstances that interfered with the normal growth of the fetus while in the womb. This condition is called intrauterine growth restriction (IUGR) and occurs when there is inadequate oxygen and nutrient supply to the fetus during pregnancy.17

SGA can arise from a genetic predisposition to small size. A family history of SGA in one or both parents is common.18 Around 50‒70% of SGA fetuses are constitutionally small, with fetal growth appropriate for maternal size and ethnicity.19

Characteristics

Infants who have SGA may be small all over (symmetrical SGA) or have disproportionate growth (asymmetrical SGA). They may be born preterm (before 37 weeks of pregnancy), at full term (between 37 to 42 weeks) or post-term (after 42 weeks).17

In infants with symmetrical SGA, weight, length and head circumference are proportionately reduced. In asymmetrical SGA, weight and length are affected, but head circumference is not. Alternatively, weight may be affected, but length and head circumference are spared.17

The majority of infants with SGA grow to a normal length after a period of catch-up growth by age 2 years. However, about 10‒15% do not do so and have persistent short stature in childhood. Catch-up growth may take longer (up to the age of 4 years) in preterm infants.7

Diagnosis

A diagnosis for SGA is given when a newborn infant’s weight and/or length is below the 3rd percentile curve for gestational age.

Treatment

Growth hormone therapy is recommended when a short child who was born with SGA fails to have catch-up growth at 4 years of age or later.15

Incidence

Turner syndrome is a chromosomal abnormality that affects only females. About one in every 1180 baby girls in Singapore are born with Turner syndrome.21

Causes

Girls typically have two X chromosomes. In a girl with Turner syndrome, one of the X chromosomes is missing or abnormal.21

Characteristics

The effects and severity of Turner syndrome vary widely depending on the degree of chromosomal abnormality.22 Features of Turner syndrome are subtle but can include misshapen ears, a short neck with extra folds of skin (webbed neck), a broad chest with widely spaced nipples, and arms that turn out slightly at the elbows.23 Some girls with Turner syndrome may, however, have an entirely normal physical appearance.5 Short stature and delayed puberty may sometimes be the only symptoms.13

Diagnosis

Diagnosis is confirmed by genetic karyotyping to look for abnormal chromosomes. Girls with unexplained short stature should always be tested for Turner syndrome.5,23

Treatment

Patients with Turner syndrome are treated for short stature in early childhood with growth hormone therapy. For adolescent girls, estrogen therapy is given to induce puberty and prevent osteoporosis.23

Incidence

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects both boys and girls. It is estimated to occur in approximately one out of every 15000 to 25000 live births.

Causes

PWS is caused by abnormal changes in DNA sequence on chromosome 15.24 In most cases, these genetic changes occur randomly and are not inherited from parents. PWS can be passed on from one generation to the next, but this is uncommon (less than 3%).25

Characteristics

Affected infants typically have a ‘floppy’ body and poor muscle tone (hypotonia). They have poor sucking and swallowing reflexes, which cause feeding difficulties and growth failure. The hypotonia improves over time but residual weakness may persist into adulthood. 24,26

The early period of growth failure during early infancy is followed by increased appetite, excessive eating and rapid weight gain in later childhood. Children with PWS develop an increased interest in food and gradually become obese as a consequence to obsessive eating. There is poor linear growth despite excessive calorie intake.24

Growth hormone insufficiency is common in PWS.25 Children with PWS are likely to be of short stature, have small hands and feet without growth hormone replacement. Excess body fat is distributed mainly around the abdomen, hips, and thighs. A lack of a pubertal growth spurt results in significantly short adult height.26

Diagnosis

Diagnosis of PWS is based on specific clinical features and confirmed by genetic testing. 25

Treatment

Growth hormone therapy is indicated for growth failure in PWS. 25

Definition

Idiopathic short stature (ISS) represents a heterogeneous group of children with short stature of height more than two standard deviations (SD) below the mean for age, sex, and population group, with no identifiable aetiology or disorders.56,57

Causes

Although ISS is defined as a condition in which children suffer from presently unknown causes of short stature, there is existing evidence of genetic abnormalities in children with ISS.

Research has identified several gene defects associated with growth hormone secretion and growth plate biology, indicating that growth hormone insensitivity and disorganized growth hormone secretion may be likely causes of ISS. 58,59,60

Characteristics

Children diagnosed with ISS typically have normal size at birth, but begin to display slow growth in early childhood, where their height falls more than two SD below the mean for their age, sex, and population group. Untreated ISS patients typically fail to achieve their target adult height range. 57,61

In addition, they typically have normal body proportions and no evidence of identified disorders, including but not limited to endocrine deficiency, nutritional disorders, chronic diseases, and chromosomal abnormalities. 57,62

Diagnosis

ISS is diagnosed by an exclusion process, based on a combination of clinical assessments and growth measurements. Assessments may include an exercise growth hormone stimulation test and in sulintolerance test. 63 A diagnosis for ISS is given when a child’s height is more than two SD below the mean for age, sex, and population group, without evidence of disease as evaluated by a paediatric endocrinologist. 57,64

Treatment

Clinical trials have suggested the potential and efficacy of growth hormone therapy to enhance growth in children with ISS. 65,66 Parents should always consult healthcare professionals for proper diagnosis, advice, and regular check-ups.
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