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Chapter 137

Short Stature: Evaluation and
Management

Preetam Nath, Jitendra Kumar, SK Hammadur Rahman, Madhukar Rai

INTRODUCTION cases. In a study to evaluate prevalence and etiological profile of
short stature in children attending out patient department (OPD)
Short stature is defined as height below 3rd centile or less than two
of a community-level hospital, the prevalence of short stature was
standard deviations (SDs) below the median height for that age
13.8%; significantly higher than prevalence reported from tertiary
and sex according to the population standard; or even if the height
centers. The most common cause of short stature was PEM and
is within the normal percentiles but growth velocity is consistently
chronic diseases occurring in 53.5% cases. Other causes included
below 25th percentile over 6–12 months of observation.1,2 Approxi­
normal variant short stature 24.4%, endocrine problems 4.7% and
mately 3% children in any population will be short, amongst which
miscellaneous 5.8%. 11.6% could not be classified due to loss to
half will be physiological (familial or constitutional) and half will be
follow-up and inability to refer to tertiary centers.
pathological.
Normal growth requires adequate nutrition along with various
hormonal stimuli. The important hormones are: growth hormone CAUSES OF SHORT STATURE
(GH), insulin-like growth factor (IGF)-1, thyroid hormones, sex
Proportionate Short Stature
steroids and other growth factors. Linear growth is maximum during
infancy; 25 cm in first year, 10 cm/year in next 2 years. Subsequently, Normal Variants (Table 1)
it gradually declines to 6–7 cm/year till puberty when again growth • Familial
accelerates in sigmoid manner when it is around 10 cm/year. Age of • Constitutional delay in growth and puberty.
onset of puberty varies in different population and it correlates more
with the bone age (BA) than chronological age (CA). Short stature Prenatal Causes
could be due to constitutive intrinsic growth defect or because of any • Intrauterine growth restriction (placental, infections or teratogen)
of the extrinsic factors which are required for normal growth. • Genetic disorders (chromosomal and metabolic disorders).

INDIAN SCENARIO Postnatal Causes
The extent of problem and causes of short stature in Indian children • Under nutrition
is not precisely known. A study of child growth included 2,500 • Chronic systemic illness
consecutive admissions to Bai Jerbai Wadia Hospital for Children • Psychosocial short stature (emotional deprivation)
in Bombay, India; 140 (5.6%) were considered to be of short stature • Endocrine causes
(less than the 5th percentile of an Indian standard). The causes of – Growth hormone deficiency/insensitivity
growth retardation were in order of frequency: protein energy – Hypothyroidism
malnutrition (PEM) (42), chronic systemic disease (23), chronic – Juvenile diabetes mellitus
anemia (19), skeletal disorders (16), constitutional short stature – Cushing’s syndrome
(15), endocrine disorders (15), intrauterine growth retardation (5), – Pseudohypoparathyroidism
chromosomal disorders (2), and miscellaneous (3). All 10.7% of – Precocious/delayed puberty.
cases with endocrine problems had congenital hypothyroidism. In
contrast, study of short stature among 430 children referred to the Disproportionate Short Stature
same hospital's endocrine clinic showed endocrine disorders was
responsible for most short stature cases (143 or 33.3%). Ninety-
With Short Limbs
seven of these cases (67.8%) had a deficiency of GH, while just 6.3% • Achondroplasia, hypochondroplasia, chondrodysplasia punctata,
suffered from hypothyroidism. Malnutrition and chronic disease chondroectodermal dysplasia, diastrophic dys­plasia, metaphyseal
caused short stature in just 8.4%. In another study from Department chondrodysplasia
of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, GH • Deformities due to osteogenesis imperfecta, refractory rickets.
deficiency was the commonest identifiable cause of short stature
and accounted for 22.8% of cases. Thirty-six subjects (18.7%) had a With Short Trunk
normal variant short stature. Renal tubular acidosis was diagnosed • Spondyloepiphyseal dysplasia, mucolipidosis, mucopoly­
in 10.4%, primary hypothyroidism, malnutrition and hypothalamic saccharidosis
syndrome in 7.8% each, and GH insensitivity syndrome in 4.1% • Caries spine, hemivertebrae.

and sparse hair. depending on the severity and duration of the hypothyroidism. especially if Although weight loss may occur immediately before the onset of puberty is delayed.g. encompass a variety of genetic conditions characterized show catch-up growth. and velocities and stature -4 to -10 SD below the mean. with the BA at should be tested for hypopituitarism initially. Metabolically. Skeletal maturation is delayed in those children in whom the neonatal period. of genital development. but normal for target height Normal PRENATAL CAUSES deficiency is associated with a characteristic distribution of fat in the face and abdomen. about 20% may follow a lifelong pattern by growth failure. genetic potential. characteristically thin. This is typically GH deficiency are often said to have a pudgy. and puberty is delayed.to lower-body ratio.12.10 grow quite normally. might also have a characteristic height than in weight gain. Children with classic thyroid hormone results in rapid catch-up growth. possibly because GH and insulin levels are increased during the preclinical evolution of the disease. short extremities. The neonate with a microphallus the hypothyroidism was sufficient to retard growth. Seckle children with new-onset diabetes are frequently taller than their peer syndrome. also referred to as primary IGF-1 life. Body proportion is immature. Prader-Willi syndrome. With proper treatment. protruding forehead. may be associated with short stature. The genitalia are small. treatment with component of hypopituitarism.11 However. group. acquired heart congenital hypothyroidism reach a height appropriate for their diseases. however. POSTNATAL CAUSES even those with marginal control. the most striking feature of IGF-1 deficiency Although classic Turner's syndrome of 45. especially in prepubertal years. Bone age. it is still a clue. and insulin resistance.6 phenotypic female with short stature may have a variant of Turner's syndrome. e. Silver-Russell syndrome. appropriate-for-gestational-age 1 levels. cardiomyopathies. Section 18 Chapter 137  Short Stature: Evaluation and Management TABLE 1 │ Comparison between familial short stature and constitutional short stature Features Familial short stature Constitutional delay in growth Sex Both equally affected More common in boys Length at birth Normal Normal (starts falling < 5th centile in 1st 3 years of life) Family history Short stature Delayed puberty Parents stature Short (one or both) Average Height velocity Normal Normal Puberty Normal Delayed Bone age (BA) and chronological age (CA) BA = CA > height age CA > BA = height age Final height Short. however. In cases of prolonged in part because height is usually more affected than weight and the severe hypothyroidism. Thus. XO (gonadal dysgenesis) is hypoglycemia with later development of obesity. children with • Miscellaneous: Cirrhosis of liver. and the patients are have a subnormal head circumference. accompanied by marked skeletal maturation. a karyotype determination should be performed for Type-1 Diabetes Mellitus every short girl if no other cause for short stature is found. In comparison.7-9 Most children with IDDM. urinary tract and Untreated severe congenital hypothyroidism results in profound nervous system anomalies growth failure.15 The poor growth is more apparent in pituitary hormone deficiencies. Other syndromes. and very low serum IGF- of short stature. Growth Hormone Deficiency Growth failure may be the most prominent manifestation of Classic GH deficiency. but fertility is Genetic Syndromes normal. either alone or in conjunction with other hypothyroidism in children. hypoglycemia. Intrauterine Growth Restriction Arrest of fetal growth in early embryonic life causes reduction in total Laron’s Syndrome number of cells.4 The phenotypic characteristics of GH insensitivity include premature in­fants usually catch up to the normal range of height and growth failure evident at birth5 with postnatal subnormal growth weight by 1–2 years of age. Down syndrome. high serum GH levels. growth failure can occur in diabetic children with Chronic illnesses that may lead to growth retardation are: long-standing poor glycemic control. bronchiectasis. relative is often correctly diagnosed. it is not always appreciated that any hyperinsulinemia.13 • Chronic infections • Malabsorption syndromes Hypothyroidism • Birth defects: Congenital heart defect (CHD). whereas the older diagnosis corresponding to the age at onset of the hypothyroidism. Male patients may have a small penis (microphallus) and if in for height. Although the majority of small for gestational age (SGA) infants deficiency. although growth velocity may decrease during Chronic Systemic Illness puberty. syndrome. leading to diminished growth potential in postnatal Conditions of GH insensitivity.4 Patients also yearly growth rate are normal in SGA patients. with an increased upper-to-lower Affected GH-deficient female patients do not have abnormalities body segment ratio. age at onset of puberty. so these children tend to be overweight profile.15 child should be evaluated if there is evidence of growth failure. Noonan clinically apparent insulin-dependent diabetes mellitus (IDDM). because hypoglycemia is often a In those children with severe growth failure.14 Acquired hypo­thyroidism during childhood may Endocrine Causes also result in growth failure that can range from subtle to profound.3 abnormal upper. the advancement of skeletal maturation 627 . cherubic appearance.

hypothyroidism up growth to be completed. and this is Dysmorphism Congenital syndromes generally the case in autosomal-dominant achondrodysplasia and Hypertension Chronic renal failure hypochondrodysplasia. CRF. or skull. Metabolic Disorders Section 18 with treatment can exceed the growth acceleration. and enhances • For older children: Stadiometer. expressed as cm/ and was often associated with other causes of growth failure. prematurity. The family history is critical. and have increased exposure to sunlight. interferes with normal • Below 2 years: Supine length with infantometer bone metabolism by inhibiting osteoblastic activity. Growth hormone. namely bizarre problem eating and drinking habits. striae Cushing’s syndrome 628 . to show dramatic behavioral manifestations Headache. resulting in a ASSESSMENT OF A CHILD WITH SHORT STATURE compromised adult height. achondroplasia. Comparison with Population Norms fed infants typically have poor exposure to sunlight and are not Height plotted on appropriate growth charts (Figure 1) and nutritionally supplemented with vitamin D. it suggests pathological cause of short stature. adrenal tumor.20 regardless of whether the Cushing's syndrome is due to Assessment of Body Proportion adrenocorticotropic hormone (ACTH) hypersecretion. cornerstones for the etiological diagnosis of short stature.16 Cushing’s Syndrome Accurate Height Measurement Glucocorticoid excess impairs skeletal growth. SOL. Small for gestational age. Some children have been Dietary intake Undernutrition reported. hepatic disease. 25-dihydroxyvitamin D3 as they become older. bone resorption. The longer the duration and the – Increased ratio: Rickets. upper and lower body segments. SKELETAL DYSPLASIAS Space-occupying lesion. rachitic rosary. In isolated vitamin D deficiency. hypovitaminosis D was a major cause of short stature The rate of increase in height over a period of time. spine. with clinical and radiologic hypothyroidism evaluation central to the diagnosis. such year. breast. as malnutrition. malabsorption. with amelioration TABLE 2 │ Clues to etiology of short stature from history of the transient early decrease of linear growth velocity. and primitive speech.24-26 Rickets Assessment of Height Velocity In the past. rickets. Alternate-day glucocorticoid treatment – Decreased ratio: Spondyloepiphysealdysplasia. Central obesity. social Lethargy. constipation. manifestations of rickets include frontal bossing. with improved weight gain and growth upon removal of the infant from the dysfunctional home. visual Pituitary/hypothalamic SOL beyond those in the typical failure-to-thrive infant.17-19 These effects are related to the duration of steroid excess. Characteristic skeletal expressed as centile or SD score. coarse skin Hypothyroidism include arm span. or chronic renal failure (CRF). however. and bowing of the legs.36 These disorders include abnormalities in the TABLE 3 │ Clues to etiology short stature from examination size or shape of bones in the limbs. such as drinking from toilets. Diagnosis of Disproportion Skeletal dysplasia. micropenis parenting. weight Hypothyroidism withdrawal.31-34 Diarrhea. often with Examination findings Etiology abnormalities seen on radiographic evaluation. RTA secretory defects and the later growth increment in the context of the clinical findings described previously confirm the diagnosis of Social history Psychosocial dwarfism psychosocial dwarfism.21-23 anomalies Inhaled glucocorticoids given for the treatment of asthma have an even – Comparison of arm span with height.28 Hyperphagia and abnormalities gain of GH production may be associated. sitting height.35.15 The deficit in adult stature correlates A detailed history and physical examination (Tables 2 and 3) are the with the duration of hypothyroidism before initiation of treatment. History Etiology History of delay of puberty in Constitutional delay of growth Psychosocial Short Stature parents An extreme form of failure to thrive is termed psychosocial dwarfism Low birth weight SGA or emotional deprivation dwarfism. greasy stools Malabsorption Abbreviations: GH. GH deficiency can be traced back to a poor home environment and inadequate jaundice.27-29 Most cases of failure to thrive Neonatal hypoglycemia. although many cases are caused by de novo mutations. broaden their diet. • Upper segment: Lower segment ratio or glucocorticoid administration. Measurement of body proportions should Goiter. lower risk of growth suppression. Chronic renal failure. untreated greater the intensity of glucocorticoid excess. Such children usually begin to synthesize 1. vomiting. RTA. If low. osteochondrodysplasias can be difficult. craniotabes. Renal tubular acidosis The osteochondrodysplasias encompass a heterogeneous group of disorders characterized by intrinsic abnormalities of cartilage and bone. and head circumference.30 The reversibility of GH Polyuria CRF. the less likely is catch. SGA. vertebral decreases but does not eliminate the risk of growth suppression. The key Catch-up growth may be particularly compromised if therapy is issues which help in deciding the cause are: initiated near puberty.

pH. The target height is plotted on the growth chart and if the child is falling within the target height.5 cm ± 8 cm. occult blood) • Total five stages included in each gender. albumin. it is considered abnormal. Bone Age Bone age assessment should be done in all children with short Level 2 stature. fasting sugar. steatorrhea. • Serum thyroxine. If above investigations are normal and height between -2 to -3 SD. • Blood (renal function test. Section 18 Chapter 137  Short Stature: Evaluation and Management Figure 1: Growth chart Courtesy: Indian Academy of Pediatrics Comparison with Child’s Own Genetic Potential • Bone age gives an idea as to what proportion of adult height has been achieved by the child and what is remaining potential for • Mid-parental height for boys = (Mother's height + father's height gain.5 cm ± 8 cm • Bone age is delayed compared to CA in almost all causes of • Mid-parental height for girls = (Mother's height + father's pathological short stature. proceed to level 3 investigations. height)/2 + 6. Level 1 (Essential Investigations) Sexual Maturity Rating • Complete hemogram with erythrocyte sedimentation rate (ESR) • Bone age • Also known as Tanner’s stages (Figure 2) • Urinalysis (microscopy. 629 . then observe height velocity for 6–12 months. phosphate. calcium. transaminases). If height < 3 SD. Otherwise. osmolality) • Used in older children • Stool (parasites. the cause could be genetic or INVESTIGATIONS constitutional. • Conventionally read from X-ray of hand and wrist using Gruelich. alkaline phosphatase. thyroid-stimulating hormone (TSH) • Appearance of various epiphyseal centers and fusion of epiphyses • Karyotype to rule out Turner’s syndrome in girls with metaphyses tells about the skeletal maturity of the child. height)/2 – 6. Pyle atlas or Tanner-Whitehouse method. venous gas.

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