In this second part, Dr. YK Amdekar discusses 8 different patient cases that present with the common symptom of short stature. The underlying causes could be varied, hence requiring thorough investigation before choosing therapy.

To read other originals by Dr. YK Amdekar, click here.

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Before you begin, take this quick quiz below to test your knowledge on the topic.

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Basic concepts for clinical application

Short stature is defined as height more than 2 standard deviations below the mean for age and must be confirmed before embarking on finding the cause.

Broadly, causes can be classified into chronic malnutrition (primary or secondary to chronic diseases, both also with poor weight), genetic (familial)/constitutional (both are diagnosis of exclusion), endocrine disorders, skeletal disorders, and syndromic defects such as Down or Turner syndrome in females.

Children with chronic malnutrition are sick, children with hypothyroidism, some of the storage disorders and Down syndrome are developmentally delayed, those suffering from skeletal disorders and hypothyroidism have disproportionate growth (limb and trunk growth are not proportional) while children suffering from other disorders are normal in weight and mental development.

Linear growth measurements including velocity of growth and mid-parental height offer clues to probable cause of short stature. Further, comparison between chronological age, height age, and bone age (as measured radiologically) along with height velocity can almost confirm the cause of short stature. Hormonal estimation or other specific tests for storage disorders may be necessary to stamp the diagnosis.

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Case-based discussions

Case 1

A 2-year-old child was referred for not gaining height as compared to the older child. He was irritable and not very active since the last one year. There were no other specific complaints. He was growing well until about 8 months of age but thereafter, his weight and height gain was very poor. On direct questioning, this child was exclusively breast-fed until one year of age and thereafter, the mother tried to introduce family food, but the child would refuse and insist on breast feeding. His intake of semi-solid food was very little. His elder brother and parents were of average height.

History of gradual faltering of weight and height after the age of 8 months and irritability with poor nutritional intake suggests primary malnutrition as the cause of growth failure.

Parents noticed poor height gain as the same size of clothes fit the child over time and at times in comparison with the older child. When weight and height are both faltering, the problem is related to poor nutrition – either primary or secondary. Primary malnutrition is considered in children below the age of two years.

Physical examination confirmed poor weight and height and there were no other significant abnormal findings. There is no need for any investigations in this child and all that is required is to de-addict him from breast feeding and ensuring adequate intake of family food together with supplements of vitamins and minerals.

Having said that, no investigations are necessary, but It is important to note that bone age is minimally delayed in malnutrition, but it is easy to rule out endocrine disorders.

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Case 2

A 2-year-old child was referred for recurrent fever, cough, and loose stools since the age of 3 months and not gaining height. He was born after full term, normal delivery with birth weight of 3 kg and was exclusively breastfed in the early months. However, while on exclusive breast feeds, he developed the first episode of fever and cough and thereafter continued to suffer at periodic intervals.

Over time, parents noticed poor weight and height gain. This infant, on exclusive breast-feeding started suffering from recurrent febrile illnesses and it suggests abnormal host status. In view of two systems involved – respiratory and intestines – it may be either immune deficiency disorder or cystic fibrosis.

It is likely to be progressive disorder as evident by poor weight and height gain. So, secondary malnutrition due to host abnormality is the cause of poor height gain.

Physical examination revealed a sick-looking child, irritable with evidence of respiratory tract infection besides poor weight and height. When both weight and height are poor – comparatively weight more affected than height and child is sick – cause is severe malnutrition.

This child needs investigations to diagnose exact cause of recurrent illnesses but does not need any other tests for poor height gain. This child was found to be suffering from cystic fibrosis resulting in secondary malnutrition.

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Case 3

An 8-year-old female child presented with a complaint of not gaining height noticed over the last few years. Parents realised it when the younger sibling outgrew this child’s height. There were no other complaints. This child was healthy, active and doing well in his studies. Parents were of average height and there was no one short in the family.

History rules out genetic cause, chronic malnutrition, and hypothyroidism. Growth hormone deficiency, constitutional delay, turner syndrome and skeletal disorders are possibilities that can be differentiated on physical examination.

Physical examination showed weight- 22 kg, height- 110 cm, proportionate limb-trunk growth. The child looked happy and active and there were no abnormal findings.

This rules out Turner syndrome (short neck, increased cubital angle, wide-spaced nipples, high arch palate) and also skeletal disorders. So now we are left with growth hormone deficiency and constitutional delay. This can be differentiated on height velocity on growth chart.

Growth hormone deficiency results in decreasing height velocity (height velocity refers to height gain in each year, normal height gain each year beyond 2 years of age till adolescence is around 6 cm per year and in GH deficiency, it goes on decreasing every year, generally starting from 2 years of age).

This child was diagnosed with constitutional delay based on maintaining same height velocity each year. Many times, one may get similar history of short stature in pre-adolescent years with subsequent catch-up in one of the parents. This is a diagnosis of exclusion, and so his height gain must be monitored. One expects spurt in height gain during adolescence in this child and he is expected to catch up to his potential. There is no need for any investigation.

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Case 4

An 8-year-old child was referred for short stature. Parents had noticed it since the age of 3-4 years but thought he might catch-up with improving nourishment and exercise. He has no other symptoms; he was active and performed well in studies. Both his parents were short. History suggests genetic short stature though we must make sure that there is no other cause because genetic or familial short stature is a diagnosis of exclusion.

Physical examination showed weight- 20 kg, height- 110 cm and no other abnormality. We need to look at the growth chart. It showed height velocity of 4.5 cm each year and it was maintained the same over years. Mid-parental height revealed that this child’s target height (height expected at adulthood) fell within mid-parental height. This confirms diagnosis of genetic or familial short stature.

There is no need for any investigations, however in case of doubt, one may estimate bone age and compare it with chronological and height age. (Height age is the age at which one expects to achieve given height – so if this child’s height is 110 cm, it corresponds to six years of age and so his height age is 6 years but chronological age is 8 years).

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Case 5

A 6-year-old child presented with developmental delay noticed since the age of 9 months and short stature noticed since the age of 3 years. Parents were more worried about developmental delay and so did not seek advice about height. Unfortunately, the doctor had not measured height either and so it went unattended.

On direct questioning, he was constipated and passed hard stools once in 2-3 days. Combination of developmental delay and constipation along with short stature suggests multisystem affection starting early in infancy. It favours the possibility of hypothyroidism or storage disorder such as mucopolysaccharides.

Physical examination showed weight- 21 kg, height- 96 cm, dysmorphic features, coarse dry skin, hoarse voice, puffiness of eyelids, umbilical hernia, abdominal distension loaded with faeces and developmental delay mainly in cognition. These findings are typical of congenital hypothyroidism. His chronological age is six years, height age is near 4 years. It was confirmed with low T3, low T4 and high TSH. Bone age in this child was 3 years – lower than height age which in turn was lower than chronological age.

The child needs thyroxin supplements for life. However, his mental condition would not improve, height may pick up a little, but he would always remain short though his constipation would improve on treatment.

Congenital hypothyroidism ideally is diagnosed at birth by cord blood screening as it offers a chance to achieve normal mental development as well as target adult height. Such screening is now done routinely in most of the general hospitals in India. It is cost effective.

In the absence of such screening, one must look for clues for early diagnosis such as delay in passing meconium at birth, sub-normal length at birth with wide posterior fontanelle suggestive of delayed bone growth. If not picked up at that age, permanent damage is most likely.

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Case 6

A 6-year-old child presented with short stature noticed two years back when the younger sibling had surpassed the elder brother’s height. There were no other complaints. Initially, parents were not very worried as they both were also short but now the child himself was concerned about it. So, parents sought medical advice. On direct questioning, parents were sure that this child looked normal in height in the first few years.

History suggests height faltering after the first few years and progressively going down. The child however, maintained good health. This history may suggest familial or genetic stature but if height velocity is progressively going down, it may be due to growth hormone deficiency. Growth chart would offer clues.

Physical examination showed weight- 21 kg, height- 102 cm, without any other abnormality. His height age is four and half years. However, height velocity was going down every year from the age of 3 years – initially it was 6 cm in the fourth year, 5 cm in the fifth year, and now 4 cm in the last year. It strongly suggests GH deficiency. However, one should confirm it with appropriate tests as familial short stature is a possibility.

Investigations ordered for him included serum IGF 1 – insulin like growth factor that correlates well with level of growth hormone. Ideally, GH should be estimated with a stimulation test in which basal level is assessed followed by a level after a challenge with drug like clonidine. Absence of increase in GH after a challenge is diagnostic of GH deficiency.

Growth hormone is now freely available, very safe though cost is a factor though it is getting more affordable. Ideally, therapy should be continued till target height is achieved.

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Case 7

A 2-year-old child presented with poor height and weight since early infancy. This child was born after full term with birth weight of 1.6 kg. There was no major problem at birth though direct breast feeding was not possible for the first few days and had to be fed with a spoon. Over the next few months, the mother noticed poor growth and after the age of six months, he suffered recurrent respiratory or intestinal infections.

History suggests growth failure that started in utero and further contributed by recurrent infections. It was not an isolated short stature but chronic severe malnutrition. Physical examination showed weight- 5.5 kg, length- 70 cm, head circumference- 44 cm, moderate pallor, poor subcutaneous fat, poor muscle mass. There were no other localising signs. He had gained 4 kg weight (normal neonate gains 4 kg in first 6 months) so his weight age is just 6 months. We did not now his length at birth, however considering it to be around 45 cm he had gained 25 cm (normal neonate gains 25 cm length in 12 months), so his height age is around 12 months. His head circumference at birth was not known but considering it to be near normal or slightly lower than normal, it may have been 32 cm, so he has gained 12 cm (it corresponds to one year of age). Thus, he is lagging in all three growth parameters. He is also developmentally sub-normal.

It is typical of intrauterine growth retardation. However, his weight is much lower as compared to his height and head circumference. It is because of his recurrent illnesses with poor nutritional intake. So, his growth failure is due to IUGR further worsened by poor nutrition.

Ideally, he does not need any specific investigations, though one must make sure that there is no other cause for recurrent infections such as immune deficiency.

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Case 8

A 6-year-old female child presented with short stature noticed over the last four years and mild developmental delay. There was no history of constipation or any frequent illnesses.

Short stature with developmental delay suggests abnormal growth and brain development. One may consider hypothyroidism but absence of constipation is against it. However, not every child with hypothyroidism would have all the typical symptoms. Other possibility is any syndromic abnormality that shares both growth and brain dysfunction.

Physical examination showed weight- 18 kg, height- 98 cm, wide-webbed neck, low set ears, wide cubital angle, presence of heart murmur and mild developmental delay. Dysmorphic features with heart murmur in a female child are typical of Turner syndrome.

This was confirmed by chromosomal study showing 45 X pattern. Such children are often detected late in childhood or later because of delayed sexual maturity. There are many other syndromes with short stature along with other abnormalities.

Disclaimer- The views and opinions expressed in this article are those of the author's and do not necessarily reflect the official policy or position of M3 India.