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AbstractConcerns about a child’s growth are one

of the most common topics parents voice

during general pediatric office visits and

are a leading cause for referral to a pediatric

endocrinologist. There are a variety of con-

ditions that lead to short stature in children;

however, in the absence of true pathology,

idiopathic short stature and constitutional

delay are the most frequent causes. This ar-

ticle reviews the general approach to evalu-

ating the short child and clinical signs that

should prompt further evaluation and re-

ferral. We also address the unique psycho-

logical issues that these children face and

approaches to counseling families with a

child with idiopathic short stature. [Pediatr

Ann. 2014;43(8):321-327.]

Clinical Dilemmas in Evaluating the Short ChildMelissa D. Garganta, MD; and Andrew A. Bremer, MD, PhD

Melissa D. Garganta, MD, is a Clinical Fellow,

Department of Pediatrics, Vanderbilt University

School of Medicine. At the time this article was

written, Andrew A. Bremer, MD, PhD, was an As-

sociate Professor of Pediatrics and Medicine, De-

partments of Pediatrics and Medicine, Vanderbilt

University School of Medicine. Dr. Bremer’s cur-

rent affiliation is the National Institute of Diabe-

tes and Digestive and Kidney Diseases, National

Institutes of Health, Bethesda, Maryland.Address correspondence to Andrew A. Bremer,

MD, PhD, 6707 Democracy Boulevard, Building 2DEM, Room 6107, Bethesda, MD 20892-5460; e-mail: andrew.bremer@nih.gov.

Disclosure: The authors have no relevant fi-nancial relationships to disclose. The contents of this article represent the authors’ views and do not constitute an official position of the National Institutes of Health or the US Government.

doi: 10.3928/00904481-20140723-11 © S

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322 Copyright © SLACK Incorporated

FEATURE

Children’s growth patterns are one of the most important as-pects of the “well child visit”

with general pediatricians, and concerns about growth problems are one of the most common reasons for referrals to pediatric endocrinologists. There is a broad differential of conditions associ-ated with short stature; however, most causes can be excluded with a thorough history, physical examination, and ba-sic screening tests. Overall, most in-stances of short stature in children are due to constitutional delay of growth, with idiopathic short stature a diagnosis of exclusion. Pediatricians face unique

challenges in counseling families of children with short stature, particularly those who experience psychological dif-ficulties and bullying. In this article, we review the general approach to evaluat-ing a short child and discuss the psycho-logical implications of short stature, in-cluding methods to counsel families on the natural course of the diagnosis. Our objectives are to (1) discuss the most important components of the history and physical examination when evaluating the short child; (2) review the most valu-able laboratory and radiological studies used in determining the cause of short stature; (3) discuss signs and symptoms

that indicate pathology and the need for specialty referral in evaluating the short child; (4) describe the unique psycho-logical issues that children with short stature face; and (5) provide resources and approaches to counseling the child and parent on idiopathic short stature.

INITIAL EVALUATION Medical History

The evaluation of a child with short stature begins with a thorough medi-cal history, including a comprehensive family history and an inquiry into so-cial aspects that can be potential causes of short stature (Table 1). Obtaining a detailed birth history that includes birth weight and length, any perinatal compli-cations, and any maternal health prob-lems during the pregnancy can provide important clues to the etiology of short stature. Children born premature often have intrauterine growth issues and nu-tritional challenges after birth that may affect future growth. Children born be-low the 10th percentile for age are small for gestational age (SGA) and can have poor linear growth early on; fortunately, approximately 90% achieve catch-up growth by age 2 years.1,2 In addition to illnesses, the family history should include both the mother’s and father’s height and timing of puberty. Children of parents who had late onset of puberty are likely to have similar constitutional delays in growth and development.3 Calculating the target height (Figure 1) enables the physician to determine if the patient is achieving his or her ge-netic potential for growth. Furthermore, height and growth problems in siblings can provide clues to constitutional delay in families or other genetic syndromes

Figure 1. Method for calculating the parental tar-get height.

TABLE 1.

Medical History for a Child with Short Stature

Area Assessed Important Factors Indicators of Possible Pathology

Birth history Weight, length, complications,

maternal health problems

SGA, IUGR, low birth weight,

maternal illness

Medical problems Infections, procedures, diagnoses Frequent respiratory or

gastrointestinal infections,

uncontrolled asthma, chronic

diarrhea or abdominal pain,

history of significant trauma

Family history Maternal and paternal height, tim-

ing of puberty, major illnesses

Consanguinity, familial con-

genital anomalies

Developmental history Major milestones, learning difficul-

ties, age of first tooth eruption

Developmental delays, learn-

ing disabilities, delayed tooth

eruption

Medications Stimulants, steroids, psychiatric

medications

Frequent glucocorticoid use,

prolonged stimulant use

Puberty Age at onset of breast or genital

development, presence of pubic

and axillary hair, age at menarche

Early menarche, delayed breast

development in females or

delayed testicular enlarge-

ment in males

Dietary history Appetite, portions, food allergies Poor appetite, food intoler-

ance, poor nutritional intake

Social history Living environment, access to

nutrition and health care

History of neglect or abuse,

significant family stressors

Review of systems Comprehensive with particular

attention to gastrointestinal and

neurological symptoms

Diarrhea, constipation, recur-

rent abdominal pain, head-

aches, vision changes, polyuria,

polydipsia, weight loss, skin

or hair changes, temperature

intolerance

IUGR = intrauterine growth restriction; SGA = small for gestational age.

GirlTarget height (cm) = Mother’s height (cm) + Father’s height (cm) − 13 cm

BoyTarget height (cm) = Mother’s height (cm) + Father’s height (cm) +13 cm

2

2

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that are associated with short stature.Major illnesses or trauma can also

affect a child’s linear growth. Parents should be asked about any frequent in-fections, hospital admissions, or surgi-cal procedures. These questions can provide important clues about underly-ing diagnoses or chronic illnesses, such as renal disease, that may affect linear growth.4 For example, a child with undi-agnosed cystic fibrosis may present with poor growth and a history of recurrent respiratory infections. Similarly, a child with celiac disease or inflammatory bowel disease may present with poor linear growth and frequent abdominal complaints.5 Children who are taking medications for chronic illnesses may also experience growth effects due to the medication. Current or prior medication use should thus always be investigated, particularly for agents that effect weight gain or metabolism. For example, some children with attention-deficit/hyper-activity disorder treated with stimulant medications have been shown to have poor weight gain and suboptimal growth; moreover, slow linear growth may also occur in those with autoimmune diseas-es or inflammatory conditions (such as asthma) that require frequent treatment with systemic glucocorticoids.6,7

A child’s developmental history, including achievement of major mile-stones, should also be obtained. Specifi-cally, the age at which a child had their first tooth eruption and loss is valuable information that can help determine ele-ments of constitutional delay.8 Children with delayed tooth eruption often have skeletal immaturity that is seen in con-stitutional delay of growth.

Physical ExaminationA thorough physical examination

specifically looking for features of ge-netic syndromes that cause short stature should be performed (Table 2). The ex-aminer should pay particular attention to facial appearance, head shape, pal-

ate shape, and ear and eye placement.9 A thorough skin examination should also be performed, as several genetic syndromes associated with short stature can feature distinct birth marks. Chest and genitourinary examinations should be completed to determine pubertal de-velopment, especially because delayed pubertal development can be associ-ated with pituitary hormone deficiencies or genetic syndromes. The extremities should be inspected for abnormalities in shape, size, and movement, including the carrying angle of the upper extremi-ties and genu varum or valgus of the lower extremities. A general examina-tion of the heart, lungs, and abdomen should also be completed.

Evaluating the Growth CurveChanges in growth velocity can be

seen when reviewing a child’s growth

chart. Accurate height measurements should be plotted at all visits to observe and calculate a height velocity. A child’s height should be measured using a sta-diometer and proper technique; this in-cludes measuring a recumbent length for children younger than age 2 years using a fixed headboard and movable foot-board and standing height for children older than 2 years.10 Often the patient’s height is measured inaccurately, which can falsely appear as short stature when viewed on the growth chart. In fact, it has been estimated that only 30% of children seen in primary care offices are measured using the proper technique, and that on average, there is a 2.2-cm difference in measured length between proper stadiometer use and simple tape measure use.10,11 Short stature due to poor nutrition or gastrointestinal ill-nesses typically demonstrate a decrease

TABLE 2.

Physical Examination of a Child with Short Stature

Area Assessed Important Factors Indicators of Possible Pathology

Head, ears, eyes,

nose, and throat

Eye and ear shape, palate shape,

head shape, head circumference,

eyebrows

Triangular facies, hypertelorism,

slanting palpebral fissures, low-set

ears, cleft or arched palate, micro-

or macrocephaly, heavy eyebrows

Neck Thyroid exam, lymph nodes Widened or webbed neck,

enlarged or absent thyroid, lymph-

adenopathy

Cardiovascular Rate, rhythm, murmurs Presence of murmur

Chest, back, and

lungs

Chest shape, nipple spacing,

breath sounds

Pectus excavatum or carinatum,

wide-spaced nipples, shield- or

bell-shaped chest, scoliosis

Abdomen Liver and spleen palpation, ten-

derness or masses

Enlarged liver or spleen

Puberty Breast development, pubic hair

development, testicular and

penile size in males

Delayed breast development,

micropenis, cryptorchidism

Extremities Limb shape and size, palmar

creases

Short metacarpals, single palmar

creases, clinodactaly, abnormal

carrying angle

Neurologic Reflexes, tone, strength Hypertonia, hypotonia, delayed

reflexes

Skin Birthmarks, rashes Café au lait spots, ash leaf spots,

large hemangiomas

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in weight gain followed by a decrease in height velocity (Figure 2). In contrast, the typical growth pattern of a child with an endocrinopathy causing short stat-ure, such as hypothyroidism or growth hormone deficiency, reveals a decrease in linear growth velocity with normal or increased weight (Figure 3).

Plotting the parental target height on the growth curve can allow the physi-cian to visualize if the child is growing along a curve consistent with their ge-netic potential, which is seen in familial short stature (Figure 4). Alternatively, children with constitutional delay will have a normal growth velocity, on aver-age about 5 cm per year in a school-aged child, but will have a delayed bone age and be growing along a curve below their parental target height until they achieve their pubertal growth spurt (Figure 5).

LABORATORY STUDIES AND IMAGING

Laboratory studies and imaging should be used judiciously, and the work-up should be tailored to the level of clinical suspicion. If the history, growth chart, and physical examination are con-sistent with constitutional delay, then a simple bone age X-ray may be helpful and no other investigation needed. In this case, the bone age would be expected to be “delayed,” indicating skeletal imma-turity. Should the physical examination findings show dysmorphic features or signs of a genetic syndrome, then the ap-propriate genetic tests should be ordered and referrals made. In the case of a child with failure to thrive or weight loss in ad-dition to short stature, celiac disease and systemic illness such as renal tubular aci-dosis and anemia should be evaluated by

obtaining a complete blood count, com-prehensive metabolic profile, and total immunoglobulin A and tissue transglu-taminase or endomysial antibody levels.5 A history consistent with poor weight gain, short stature, and respiratory infec-tions should prompt an evaluation for cystic fibrosis with a sweat chloride test or genetic studies.

If an endocrine disorder is suspected, it is appropriate to evaluate the differ-ent hormonal axes that can cause poor growth. This includes evaluating for hypothyroidism and growth hormone deficiency by measuring levels of thy-roid-stimulating hormone, free thyrox-ine (T4), and insulin-like growth fac-tor-1 (IGF-1) and its binding protein, IGFBP-3. Obtaining a serum growth hormone level is not useful due to the varying levels in the body throughout the

Figure 2. A representative growth chart for a child with celiac disease. Figure 3. A representative growth chart for a child with acquired hypothy-roidism.

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day.12 Moreover, short females should have a karyotype performed to rule out Turner syndrome, as short stature may be the only physical manifestation of this disorder.13

NEED FOR SUBSPECIALTY REFERRAL

In cases of familial short stature or constitutional delay, further evaluation and referral is generally not indicated. However, should any of the historical or physical examination findings be con-cerning for pathology, then referral to the appropriate subspecialist is warrant-ed. For example, the child with suspect-ed celiac disease should be referred to a pediatric gastroenterologist for further evaluation. Moreover, a child with dys-morphic features should be evaluated by a geneticist. Several syndromes qualify

for growth hormone treatment (Table 3), and patients with these disorders should be evaluated by an endocrinologist. Short children with mid-line defects such as a single central incisor or cleft palate are at risk for growth hormone deficiency and should also be evaluated by an endocrinologist. Moreover, pedia-tricians and general practitioners should be concerned and consider referral when any child has a decline in growth veloc-ity with no apparent clinical cause.

PSYCHOLOGICAL ISSUESReports of bullying and poor out-

comes in children due to teasing and psychological stress are common in the media and increasing in frequency.14 Children who are bullied have been shown to have higher rates of depres-sion, anxiety, school absenteeism, and

suicidal ideation; yet, only about one-third of victimized children report the bullying to parents or teachers.15 Fear of these negative psychological effects often prompts parents to discuss growth concerns with the pediatrician. How-ever, the literature regarding the psycho-social functioning of children with short stature provides varied results. Most studies that address the psychologi-cal effects of short stature in children review only parental reports of stress and adjustment problems in the child.16 However, one study examining student responses found that short children are more likely to be bullied and also feel a greater degree of social isolation when compared with their taller peers,17 and another found that the frequency of bul-lying was negatively correlated with the height of the child, indicating that the

Figure 4. A representative growth chart for a child with familial short stature. Figure 5. A representative growth chart for a child with constitutional delay of growth.

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shorter the child, the more likely they are to be teased.18 Risk factors associ-ated with being teased for short stature include male gender, low socioeconom-ic status, low intelligence, and having a younger but taller sibling.19 It is clear that significant parental and child anxi-ety is related to the diagnosis of short stature; however, more recent reviews of the literature show that in general, short children are well adjusted and experi-ence no long-term consequences asso-ciated with their stature.20 In the setting of short stature, parents also tend to rate their children’s well-being lower than do the patients themselves.21 Thus, both the parent and child should be asked about any psychosocial difficulties including bullying, teasing, abuse, anxiety, or re-duced self-esteem.

It is important for pediatricians to evaluate the psychological impact of short stature on their patients. We rec-ommend that pediatricians routinely dis-cuss bullying with their patients and par-

ents and appropriately screen for anxiety and depression in these patients. Should parents report significant social prob-lems or depression, then the child should be evaluated for mental health treatment.

COUNSELING PARENTSOnce the medical evaluation is com-

plete and any pathology excluded as the cause of short stature, efforts to counsel the parents become the focus of the visit. Many parents will inquire about the use of medication, namely growth hormone, as a treatment for their child’s idiopathic short stature, particularly if the child is experiencing negative psychosocial ef-fects from low self-esteem or bullying. Often, the expectation is that achieving a taller stature will improve self-esteem, confidence, and even behavioral dif-ficulties; however, this is not always the case. On average, treating children who have idiopathic short stature with growth hormone has not been shown to improve psychosocial functioning.22

The psychosocial impact of short stat-ure is a complex interplay of the child’s functioning, temperament, cultural ste-reotypes, and adaptation to stress. The coping strategies of the child and family affect how the child emotionally deals with any teasing or bullying he or she may experience.22 Assessment of other stressors on the family and child, such as financial problems, major life events, or learning difficulties can help determine to what extent further emotional stress will impact the child. When counseling parents about their child’s growth, de-termining if there are other significant social stressors will help the physician decide what additional support, if any, is needed. Involving social workers, school counselors, and mental health profes-sionals may be beneficial if the family is experiencing significant stress that is ex-acerbated by psychosocial problems the child is facing due to their short stature.

Importantly, a realistic discussion of the parent’s and child’s expectations

TABLE 4.

Resources for Physicians and PatientsResources for Physicians:• American Academy of Pediatrics. Bullying: it’s not OK. http://www.healthychildren.org/English/

safety-prevention/at-play/pages/Bullying-Its-Not-Ok.aspx/

• Centers for Disease Control and Prevention. Bullying among middle school and high school stu-

dents—Massachusetts, 2009.24 http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6015a1.htm

• Committee on Injury, Violence, and Poison Prevention. Policy statement—role of the pediatrician

in youth violence prevention.25

Resources for Parents:• American Academy of Pediatrics. Avoiding bullying. http://www.healthychildren.org/English/

safety-prevention/at-play/Pages/Avoiding-Bullying.aspx

• American Academy of Pediatrics. When a child is unusually short or tall. http://www.healthychil-

dren.org/English/ages-stages/gradeschool/puberty/Pages/When-a-Child-is-Unusually-Short-or-

Tall.aspx

• Mayo Clinic. Bullying: help your child handle a school bully. http://www.mayoclinic.com/health/

bullying/MH00126

Resources for Patients:• American Academy of Pediatrics. A Minute for Kids audio file on bullying. http://patiented.aap.

org/content.aspx?aid=6731

• Pacer National Bullying Prevention Center. http://www.pacerkidsagainstbullying.org

• US Department of Health and Human Services http://www.stopbullying.gov/kids

TABLE 3.

FDA-Approved Conditions for the Use of Growth

Hormone Therapy for Short Stature

ConditionYear approved

by FDA

Childhood growth

hormone deficiency

1985

Chronic renal insuf-

ficiency

1993

Turner syndrome 1997

Prader-Willi syndrome 2000

Born small for gesta-

tional age

2001

Idiopathic short stature 2003

SHOX gene deficiency 2006

Noonan syndrome 2007

FDA = US Food and Drug Administration.

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regarding their height should be under-taken during the counseling portion of the visit. We see that children often have unrealistic expectations of achieving tall stature and that parents will also over-estimate their stature.21 A discussion of growth patterns and final height can help parents and children develop more real-istic expectations about final height.21,23 It is important to emphasize that short stature is not an illness or a medical problem itself. Encouraging parents to focus on the child’s attributes and tal-ents, not just their height, will also help children focus on their positive traits rather than their stature.

Table 4 lists resources that are avail-able to parents and patients who are struggling with bullying and for physi-cians who are counseling these families. It also lists resources for parents regard-ing growth and idiopathic short stature to assist in their understanding of the diagnosis.

CONCLUSIONAfter a thorough history, physical

examination, and basic laboratory evalu-ation, most pathologic causes of short stature can be excluded in the general pediatrician’s office. Evaluating the pa-tient’s growth chart and growth veloc-ity is paramount to making the correct diagnosis. Concerning physical exami-nation findings and changes in growth velocity should prompt a referral to an endocrinologist. When pathology is ex-cluded and the healthy child continues to be short for familial expectations, coun-seling on the course of idiopathic short stature should be performed. Although children with short stature are at greater risk of being bullied and experiencing psychological difficulties, they function well overall when compared with their peers. There are also several resources available to counsel both patients and their parents when psychological stress is a problem.

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