Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

Wit, Jan M.; Clayton, Peter E.; Rogol, Alan D.; Savage, Martin O.; Saenger, Paul; Cohen, Pinchas

doi:10.1016/j.ghir.2007.11.004

Cited by 212 publications

(221 citation statements)

References 189 publications

(247 reference statements)

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“…A similar pattern was seen for SH and LL SDS. This result confirms our and others' earlier findings (28,29). It also shows that HSDS for BA in young children severely over-predicts AH.…”

Section: Discussionsupporting

confidence: 93%

High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height

Gool

Kamp

Odink

et al. 2010

European Journal of Endocrinology

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Objective: To assess the long-term effect of prepubertal high-dose GH treatment on growth in children with idiopathic short stature (ISS). Design and methods: Forty children with no signs of puberty, age at start 4-8 years (girls) or 4-10 years (boys), height SDS !K2.0 SDS, and birth length OK2.0 SDS, were randomly allocated to receive GH at a dose of 2 mg/m 2 per day (equivalent to 75 mg/kg per day at start and 64 mg/kg per day at stop) until the onset of puberty for at least 2 years (preceded by two 3-month periods of treatment with low or intermediate doses of GH separated by two washout periods of 3 months) or no treatment. In 28 cases, adult height (AH) was assessed at a mean (S.D.) age of 20.4 (2.3) years. Results: GH-treated children (mean treatment period on high-dose GH 2.3 years (range 1.2-5.0 years)) showed an increased mean height SDS at discontinuation of the treatment compared with the controls (K1.3 (0.8) SDS versus K2.6 (0.8) SDS respectively). However, bone maturation was significantly accelerated in the GH-treated group compared with the controls (1.6 (0.4) versus 1.0 (0.2) years per year, respectively), and pubertal onset tended to advance. After an untreated interval of 3-12 years, AH was K2.1 (0.7) and K1.9 (0.6) in the GH-treated and control groups respectively. Age was a positive predictor of adult height gain. Conclusion: High-dose GH treatment restricted to the prepubertal period in young ISS children augments height gain during treatment, but accelerates bone maturation, resulting in a similar adult height compared with the untreated controls.

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“…A similar pattern was seen for SH and LL SDS. This result confirms our and others' earlier findings (28,29). It also shows that HSDS for BA in young children severely over-predicts AH.…”

Section: Discussionsupporting

confidence: 93%

High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height

Gool

Kamp

Odink

et al. 2010

European Journal of Endocrinology

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“…14 In this article, we describe the results of a genome-wide analysis for CNVs using SNP arrays in short children, in an effort to identify novel gene variants associated with short stature.…”

Section: Introductionmentioning

confidence: 99%

Copy number variants in patients with short stature

et al. 2013

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“…Table 3 Clinical and laboratorial characteristics of the two patients with functionally significant GHSR mutations. boys, this condition cannot be differentiated from ISS (31). This disorder occurs more frequently in males (18,32), and indeed, in our cohort, the proportion of males was greater in the CDGP group than in the non-CDGP group (77 vs 61%, see Table 1).…”

Section: Discussionmentioning

confidence: 52%

“…The fact that on the first evaluation our CDGP patients were older than the non-CDGP patients suggests that they might have reached a height SDS below K2.0 (short stature) later in life, therefore coming in later for medical evaluation. CDGP is characterized by a significant delay in both BA and adolescent growth spurt (31), which underlies the transient short stature stage, which is seen in affected individuals. Calculated measures of heritability suggest that 50-80% of the variance in pubertal onset is genetically controlled (30,32).…”

Section: Discussionmentioning

confidence: 99%

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty

Pugliese-Pires

Fortin

Arthur

et al. 2011

European Journal of Endocrinology

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Background: A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective: To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients. Subjects and methods: The GHSR coding region was directly sequenced in 96 independent patients with ISS, 31 of them with CDGP, in 150 adults, and in 197 children with normal stature. The pharmacological consequences of GHSR non-synonymous variations were established using in vitro cell-based assays. Results: Five different heterozygous point variations in GHSR were identified (c.K6 GOC, c.251GOT (p.Ser84Ile), c.505GOA (p.Ala169Thr), c.545 TOC (p.Val182Ala), and c.1072GOA (p.Ala358Thr)), all in patients with CDGP. Neither these allelic variants nor any other mutations were found in 694 alleles from controls. Functional studies revealed that two of these variations (p.Ser84Ile and p.Val182Ala) result in a decrease in basal activity that was in part explained by a reduction in cell surface expression. The p.Ser84Ile mutation was also associated with a defect in ghrelin potency. These mutations were identified in two female patients with CDGP (at the age of 13 years, their height SDS were K2.4 and K2.3). Both patients had normal progression of puberty and reached normal adult height (height SDS of K0.7 and K1.4) without treatment. Conclusion: This is the first report of GHSR mutations in patients with CDGP. Our data raise the intriguing possibility that abnormalities in ghrelin receptor function may influence the phenotype of individuals with CDGP.

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Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

Cited by 212 publications

References 189 publications

High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height

High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height

Copy number variants in patients with short stature

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty

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