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Abstract
The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of
constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or
accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of
pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes
are Marfan syndrome and similar, Sotos syndrome, Beckwith-Wiedemann syndrome, Klinefelter syndrome, and MEN2B. There are many genetic
syndromes with tall stature, justifying consultation with the geneticist. When the speed of growth is accelerated, first of all it evokes puberty and
early pseudopuberty, obesity and acromegaly. Finally, when the growth velocity is regular, and the parents are of tall stature, it evokes constitutional
tall stature: this is the most frequent diagnosis, to retain after having rejected pathological tall statures.
© 2017 Elsevier Masson SAS. All rights reserved.
Keywords: Tall stature; Growth velocity; Marfan syndrome; Sotos syndrome; MEN2B
Résumé
La démarche diagnostique devant une grande taille chez l’enfant s’appuie sur le recueil des coordonnées de naissance (macrosomie ?), des tailles
et pubertés familiales, des antécédents familiaux de grande taille constitutionnelle ou pathologique, la recherche d’un retard de développement,
d’une dysmorphie, d’une disproportion, sur l’analyse de la vitesse de croissance (normale ou accélérée), sur l’examen général et pubertaire, et
sur la réalisation d’un âge osseux. Lorsqu’il existe des ACTD de retard psychomoteur, une histoire familiale de grande taille pathologique, ou
une disproportion à l’examen clinique, les causes génétiques de grande taille seront évoquées. Les causes les plus fréquentes sont le syndrome de
Marfan et apparentés, le syndrome de Sotos, le syndrome de Wiedemann-Beckwith, le syndrome de Klinfelter, la MEN2B. Il existe de nombreux
syndromes génétiques avec grande taille, justifiant d’une consultation avec le généticien clinicien. Lorsque la vitesse de croissance est accélérée,
on évoque en premier lieu les pubertés et pseudopubertés précoces, l’obésité, l’acromégalie. Enfin, lorsque la vitesse de croissance est régulière,
et les parents de grande taille, on évoque la grande taille constitutionnelle : il s’agit du diagnostic le plus fréquent, à retenir après avoir éliminé les
grandes tailles pathologiques.
© 2017 Elsevier Masson SAS. Tous droits réservés.
Mots clés : Grande taille ; Vitesse de croissance ; Syndrome de Marfan ; Syndrome de Sotos ; MEN2B
1. Definitions and initial management and gender. In France, a size greater than +2 standard deviations
at adult age corresponds to more than 187 cm for a man and more
1.1. Definitions than 175 cm for a woman. In the Netherlands, the same statistical
thresholds lead to a size greater than 194.5 cm and 180 cm, and
Tall stature is defined as a size ranging beyond the threshold of in Korea to 180 cm and 166.5 cm respectively (Fig. 1) [1].
+2 standard deviations of the average population size for the age A height beyond +2 standard deviations from the genetic tar-
get height (the average of the parental heights SD score) (Fig. 1),
or an acceleration of growth (arbitrarily a statural height gain
∗ of more than 0.5 to 1 standard deviation) also merit medical
Corresponding author.
E-mail address: recoutant@chu-angers.fr (R. Coutant). assessment (Fig. 2).
http://dx.doi.org/10.1016/j.ando.2017.04.006
0003-4266/© 2017 Elsevier Masson SAS. All rights reserved.
Please cite this article in press as: Coutant R, et al. How to investigate a child with excessive growth? Ann Endocrinol (Paris) (2017),
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Fig. 1. Size > +2 SD of the average population for age and sex, and > +2 SD the target genetic size.
Although the definition of tall stature is statistical (and there- of increased professional authority, accompanied by difficulties
fore affects almost 2.5% of the population), it is a much less with male subordinates, but no social or family disadvantages.
frequent reason for consultation in Paediatrics that being small
(10 to 20 times less frequent), because tall stature is often 1.2. Initial management
perceived as beneficial.
The request is often the result of a bad psychological toler- The consultation will establish the height-weight growth
ance towards tall stature, more often observed among girls [1–3]: curve, body mass index, and cranial perimeter of the child,
manifestations of anxiety and depression are more frequent collect the term and birth data (weight, length, and head circum-
among girls of tall stature and could persist in adulthood [4]. ference), the height of the parents and first degree relatives (and
However, women of tall stature have also reported the perception second degree), pubertal timing of the parents (age of menarche
Please cite this article in press as: Coutant R, et al. How to investigate a child with excessive growth? Ann Endocrinol (Paris) (2017),
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of the mother and approximate age of the pubertal growth spurt and head circumference will be measured, all these elements are
of the father), personal and family history (neonatal hypogly- important to the diagnostic orientation.
caemia, cardiovascular pathology, ophthalmologic, neoplasia), The determination of bone age is usual (in France, the most
and delay of psychomotor development. often used reference is the atlas of radiographs of the left hand
The clinical examination aims to find a heart murmur, anoma- and wrist by Greulich and Pyle). It can help to guide the diag-
lies of the skin (stretch marks), skeletal (scoliosis, pectus nosis: strong advances of bone age being more often associated
excavatum, hyperlaxity), facial dysmorphism and will evalu- with pathologies, while constitutional tall stature is more often
ate the pubertal stage. Standing height, sitting height, arm span, associated with a normal bone age; however, the sensitivity and
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specificity of bone age for diagnosis have not been specifically adolescence in particular, and the sensitivity to the growth hor-
evaluated, and are likely to be very low. The interest of bone age mone can be increased [6]. If the child has a height > +2 standard
measurement or the determination of the height prognosis will deviations from the genetic target height and levels of circulat-
be discussed in the chapter by T. Edouard [2]. ing IGF-1 also close to +2 SD score, carrying out an OGTT
The diagnostic approach is to determine if the tall stature and a cranial MRI is useful, in order to eliminate acromegaly.
is pathological or physiological (the latter is by far the most A variant of constitutional tall stature is constitutional advanced
frequent), to assess the organic and psychological conse- growth: the auxological characteristics are the same as those of
quences of tall stature, and to assess the height prognosis the constitutional tall stature, but bone age is advanced, and the
(the therapeutic modalities will be detailed in the chapter by entire aetiological balance is negative.
T. Edouard).
2.2. Acromegalogigantism
2. The main causes of tall stature
Acromegalogigantism is very rare in paediatrics, due to a
The main causes of tall stature, and the synthetic diagnos- somatotroph adenoma (or hyperplasia of the somatotroph cells).
tic approach, are shown in Fig. 3. The diagnostic approach is The clinical presentation shows generally a pathological accel-
based on the study of the growth rate (normal or accelerated), erated growth and not necessarily other clinical manifestations
birth data (excess in foetal growth?), and the search for dysmor- (large features, enlargement of the nose and chin, thick skin,
phia/disproportion/slow development. It is not in the objective large and wide limbs). Biologically, circulating IGF1 levels are,
of this article to comprehensively summarise all aetiologies: we in virtually all cases reported, very high for the age (higher
cover the main ones [5]. than +2 SD score), with circulating basal GH levels being easily
detectable (often greater than 15 g/L), and GH secretion of GH
2.1. Constitutional tall stature not suppressed during the OGTT. The pituitary MRI confirms the
diagnosis [7]. In adolescence, it may sometimes be difficult to
Constitutional tall stature is a diagnosis of elimination, but it discriminate a physiological elevation of IGF-1 of a pathological
is the most common [1,5]. Tall stature is usually present at birth elevation (MRI is useful in case of doubt). Finally, in McCune-
in tall stature families. The growth curve often shows accelerated Albright syndrome, one can observe a defect in GH suppression
growth during the first years of life, then a stabilisation between during OGTT contrasting with circulating IGF-1 levels in the
3 and 5 years on a growth corridor beyond +2SD. Bone age is limits of the normal, little growth advance (due to the bone dis-
most often aligned with actual age. The hormonal balance is ease), and advanced bone age (due to the gonadal and adrenal
normal, even if circulating IGF1 levels can sometimes be in the autonomy)[8]. Somatotroph adenomas represent 1–20% of child
upper half of the normal for the age and sex, the GH suppression pituitary tumours, which represent less than 3% of supratentorial
in response to an oral glucose tolerance test can be imperfect in child tumours. A molecular cause must be sought systematically:
Please cite this article in press as: Coutant R, et al. How to investigate a child with excessive growth? Ann Endocrinol (Paris) (2017),
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Table 1
The criteria diagnostics of Marfan syndrome.
Please cite this article in press as: Coutant R, et al. How to investigate a child with excessive growth? Ann Endocrinol (Paris) (2017),
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Please cite this article in press as: Coutant R, et al. How to investigate a child with excessive growth? Ann Endocrinol (Paris) (2017),
http://dx.doi.org/10.1016/j.ando.2017.04.006