Pediatric Annals

from the guest editor 

THIS ISSUE: Short Stature

Donald Zimmerman, MD

Abstract

Pediatricians frequently are concerned about deficient growth in their patients. This issue of Pediatrie Annals discusses a number of significant pathological processes in nearly all organ systems that may inhibit growth. Growth inhibition should be regarded as a nonspecific sign of ill health, and its evaluation must include consideration of disease processes in all organ systems.

EVALUATING SHORT STATURE

In our article on evaluation of short stature, Dr. Halac and I emphasize the analysis of growth patterns in diagnosis. For example, constitutional delay of growth and development is a normal variant of growth in which birth size is normal, but length and weight percentiles decline in parallel during infancy. Older than 3, children with constitutional delay grow at a normal velocity parallel to the normal curve.

Children with constitutional delay have delayed skeletal age and delayed puberty. Children with genetic short stature or idiopathic short stature manifest a growth pattern similar to that seen in children with constitutional delay of growth and development However, children with genetic short stature do not have delayed bone age or delayed puberty.

Another growth pattern - deficient weight gain preceding deficient growth in height - points to undernutrition or gastrointestinal dysfunction as probable etiologies of poor growth. When weight gain occurs simultaneously with statural growth deceleration, Gushing syndrome or hypothyroidism should be considered. Similarly, the pattern of growth retardation beginning in fetal life suggests placental insufficiency, fetal infections, teratogenic substances, or specific syndromes or chromosomal abnormalities.

TURNER SYNDROME

One of the syndromes associated with short stature beginning in fetal life is Turner syndrome. This condition is common, and its features may be striking in some patients and frustratingly subtle in others. Because of this range of presentations, the condition should be considered as a possible etiology of short stature in all short girls. It may present with abnormalities in many organ systems.

In, infancy some patiente have lymphedema of the hands and feet, while others present with congenital heart disease or with manifestations of renal malformations. Later in life, patients with Turner syndrome may have gastrointestinal disease, serious problems in the inner and middle ear, orthopedic problems, learning difficulties, endocrine disease, and a host of other medical concerns. Quite frequently, short stature is the only obvious symptom and sign.

Dr. Halac and I catalog the medical problems of these patients in our article on Turner syndrome and emphasize that the subtlety of the condition makes chromosome analysis essential in evaluating short stature in all girls. This article may be of particular value for pediatricians and family physicians who frequently diagnose problems in these patients and who ultimately manage their care.

IDIOPATHIC SHORT STATURE

Quite often, our evaluation of short patients fails to uncover a specific pathologic process that has inhibited growth. Some of these patients have genetic short stature, a familial trait that usually is regarded as idiopathic. Others have non-familial, primordial short stature. A number of studies have reported negative psychosocial outcomes for short individuals. In light of these psychosocial problems, several studies have documented increments in adult height in patients treated with growth hormone. Because of these results, the Food and Drag Administration recently approved growth hormone for use in treatment of children with idiopathic short stature.

Dr. Miller and I discuss idiopathic short stature and its treatment with growth hormone. In general, growth hormone is able to bolster growth in these patients, although the growth increment is often less than that resulting from growth hormone treatment of patients deficient in growth hormone. The considerable expense, modest benefits, and potential side effects of growth hormone treatment of patients with idiopathic short Stature…

Pediatricians frequently are concerned about deficient growth in their patients. This issue of Pediatrie Annals discusses a number of significant pathological processes in nearly all organ systems that may inhibit growth. Growth inhibition should be regarded as a nonspecific sign of ill health, and its evaluation must include consideration of disease processes in all organ systems.

EVALUATING SHORT STATURE

In our article on evaluation of short stature, Dr. Halac and I emphasize the analysis of growth patterns in diagnosis. For example, constitutional delay of growth and development is a normal variant of growth in which birth size is normal, but length and weight percentiles decline in parallel during infancy. Older than 3, children with constitutional delay grow at a normal velocity parallel to the normal curve.

Children with constitutional delay have delayed skeletal age and delayed puberty. Children with genetic short stature or idiopathic short stature manifest a growth pattern similar to that seen in children with constitutional delay of growth and development However, children with genetic short stature do not have delayed bone age or delayed puberty.

Another growth pattern - deficient weight gain preceding deficient growth in height - points to undernutrition or gastrointestinal dysfunction as probable etiologies of poor growth. When weight gain occurs simultaneously with statural growth deceleration, Gushing syndrome or hypothyroidism should be considered. Similarly, the pattern of growth retardation beginning in fetal life suggests placental insufficiency, fetal infections, teratogenic substances, or specific syndromes or chromosomal abnormalities.

TURNER SYNDROME

One of the syndromes associated with short stature beginning in fetal life is Turner syndrome. This condition is common, and its features may be striking in some patients and frustratingly subtle in others. Because of this range of presentations, the condition should be considered as a possible etiology of short stature in all short girls. It may present with abnormalities in many organ systems.

In, infancy some patiente have lymphedema of the hands and feet, while others present with congenital heart disease or with manifestations of renal malformations. Later in life, patients with Turner syndrome may have gastrointestinal disease, serious problems in the inner and middle ear, orthopedic problems, learning difficulties, endocrine disease, and a host of other medical concerns. Quite frequently, short stature is the only obvious symptom and sign.

Dr. Halac and I catalog the medical problems of these patients in our article on Turner syndrome and emphasize that the subtlety of the condition makes chromosome analysis essential in evaluating short stature in all girls. This article may be of particular value for pediatricians and family physicians who frequently diagnose problems in these patients and who ultimately manage their care.

IDIOPATHIC SHORT STATURE

Quite often, our evaluation of short patients fails to uncover a specific pathologic process that has inhibited growth. Some of these patients have genetic short stature, a familial trait that usually is regarded as idiopathic. Others have non-familial, primordial short stature. A number of studies have reported negative psychosocial outcomes for short individuals. In light of these psychosocial problems, several studies have documented increments in adult height in patients treated with growth hormone. Because of these results, the Food and Drag Administration recently approved growth hormone for use in treatment of children with idiopathic short stature.

Dr. Miller and I discuss idiopathic short stature and its treatment with growth hormone. In general, growth hormone is able to bolster growth in these patients, although the growth increment is often less than that resulting from growth hormone treatment of patients deficient in growth hormone. The considerable expense, modest benefits, and potential side effects of growth hormone treatment of patients with idiopathic short Stature should motivate physicians and parents to exercise great care hi deciding whether to treat.

GROWTH HORMONE TREATMENT

In deciding to use growth hormone for any of its indications, doctors, patients, and families must consider both the efficacy and the potential side effects of treatment. Growth hormone has been used f OT 40 years, and it appears to have relatively few serious side effects. Despite this, some of its potential side effects are serious - especially pseudotumor cerebri, increased risk of developing diabetes mellitus, and the theoretical increased risk of neoplasia later in life. In addition, a few patients with Prader- Willi syndrome receiving growth hormone treatment have died. Some patients develop hypothyroidism due to deficiency of thyroid stimulating hormone.

Dr. Halac and I review the side effects of growth hormone treatment with a focus on monitoring patients for early signs of difficulty. Patients and families should be advised to notify their physicians if headache, visual disturbance, polyuria, polydipsia, nocturnal snoring, disturbed breathing during sleep, or daytime somnolence occur. Because growthhormone-induced growth acceleration may also accelerate the development, of scoliosis, physicians treating with growth hormone should include careful examination for scoliosis in their follow ups. Physicians should monitor blood glucose, IGF-I, IGF-BP-3, and free thyroxine levels.

SUMMARY

These reviews of evaluation and care of patients with short stature should provide a framework for addressing the needs of these patients. Continued study of the mechanisms of short stature may facilitate prediction of the efficacy of growth hormone, growth factor, and perhaps other treatments. In addition, long-term studies should continue to examine the medical and psychological effects of treatment so that treatment decisions are as judicious as possible.

10.3928/0090-4481-20040301-04

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