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Cheetham Article author
T, et al. Arch Dis Child (or their employer)
2014;0:1–5. 2014. Produced by BMJ Publishing Group Ltd (& RCPCH) under licence.
doi:10.1136/archdischild-2013-304829 1
Downloaded from adc.bmj.com on March 19, 2014 - Published by group.bmj.com
Review
chronic illness and dysmorphic syndromes. A particularly diffi- autosomal-dominant manner, and measuring the skeletal pro-
cult component of the assessment is to gauge whether flaws in portions of the child and potentially the parents as well is
the nurturing process could be affecting growth and nutrition. important. Charts that document sitting height and sub-ischial
An abusive environment ( physical, emotional or neglect) is a leg length are a useful resource in any general paediatric and
well-recognised cause of poor growth and short stature although growth clinic. Sitting height is measured with a specific stadi-
there may be little in the way of clues in the outpatient depart- ometer and then subtracted from height to generate sub-ischial
ment. Extreme behaviour with features, such as soiling and food leg length. A pronounced discrepancy between the two SD
hoarding have been described,4 but the more subtle end of the scores raises the possibility of an underlying skeletal dysplasia.
spectrum is challenging to diagnose. Pseudohypoparathyroidism (PHP) is associated with small
stature in adolescence and in adult life, but the clinical pheno-
PUBERTY type in early childhood may provide little in the way of obvious
Puberty and the associated increase in sex steroid production clues, because these children may be relatively tall at this stage
can make life more difficult for the paediatrician because it of life, and because the phenotype is extremely varied.6
introduces another variable that requires consideration and Children with PHP are more likely to be overweight, and meas-
assessment. Relatively early or late puberty may be associated uring calcium and PTH concentrations may be important if a
with centile crossing on height charts, and so height velocity pathological cause of short stature is suspected.
cannot be used as an index of health or disease in the same way
as it can be in the prepubertal child. The growth spurt is an
early feature of puberty in girls but is a relatively late feature in Endocrine causes of short stature
boys where there is progressive gonadotrophin production and Autoimmune thyroid disease that destroys the thyroid gland
associated testicular enlargement for some time without an (atrophic thyroid disease) will result in a characteristic pheno-
increase in growth rate. The rise in height velocity at puberty is type, slow growth and short stature (figure 1). GH deficiency is
linked to rising oestrogen levels in both sexes and reflects an rare, and in classical form has a characteristic phenotype with
increase in pulsatile GH release together with a direct effect of mid-facial crowding, and a significant amount of overlying sub-
sex steroid on the epiphysis. Delayed progress into puberty will cutaneous fat. The child with a well-defined abdominal muscula-
be associated with delayed growth acceleration, and for a time ture is unlikely to have GH deficiency. Cushing’s syndrome will
the individual progressing into puberty late may therefore be occasionally be due to an adrenocorticotrophic hormone-
considerably shorter than his or her peers. Assessing the short
child requires an understanding of the Tanner pubertal staging
system, and it is difficult to reach a diagnosis in the short teen-
ager without knowing an individual’s pubertal status. The com-
bination of relatively late progress into puberty and short
parents can result in a healthy child appearing very short for a
while when compared with peers or when plotted on charts.
The timing of puberty has a major inherited, genetic compo-
nent, and establishing when the parents progressed into puberty
(when was your menarche? were you a lot shorter than your
peers for a time?) is important. Boys will typically grow around
20–30 cm following the onset of puberty, while girls will grow
between 15 and 25 cm.
Review
Review
Box 2 Key features of growth hormone (GH) deficiency Box 3 Notable causes of prenatal and postnatal small
size
▸ History—low glucose in early life
▸ Slow growth ▸ Congenital infection
▸ Small stature ▸ Fetal alcohol syndrome.
▸ Dysmorphism with mid-facial crowding and central adiposity ▸ Distal abnormalities of the growth hormone (GH)/insulin-like
▸ Low GH dependent factors (insulin-like growth factor 1 growth factor 1 (IGF-1) axis
(IGF-I), IGFBP-3) ▸ Chromosomal copy number variant
▸ Low GH on provocation testing ▸ Imprinting defect, for example, Silver Russell Syndrome
▸ Abnormal imaging—for example, ectopic posterior pituitary ▸ Confined placental mosaicism
bright spot ▸ Skeletal dysplasias—for example, 3M syndrome
▸ Rapid growth on GH replacement ▸ Subtle syndromic diagnoses, for example, Floating Harbor
Review
Figure 5 Twins, one of whom is growing slowly (twin 2). See text for further details.
These include:
References This article cites 10 articles, 3 of which can be accessed free at:
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