Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents

Rogol, Alan D.; Hayden, Gregory F.

doi:10.1016/j.jpeds.2014.02.027

Cited by 141 publications

(113 citation statements)

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“…Short stature (SS) in childhood is a frequent reason for referral to pediatric endocrinologists [2,3]. Normal height is determined according to age, sex and ethnic group as well as the family context.…”

Section: Introductionmentioning

confidence: 99%

Challenges in the Management of Short Stature

Argente¹

2015

Horm Res Paediatr

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Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or postnatal onset, or an unknown diagnosis, i.e. idiopathic SS. The incidence/prevalence of SS is difficult to establish. The measurement of choice in children aged <2 years is length, while in those >2 years of age it is height. A number of monogenic diseases that lead to proportionate SS due to either isolated growth hormone deficiency, multiple pituitary hormone deficiency, growth hormone insensitivity, primary acid-labile subunit deficiency, primary IGF-1 deficiency, IGF-1 resistance, primary IGF-2 deficiency or primary protease deficiency have been discovered in the last 30 years. In addition, the Nosology and Classification of Genetic Skeletal Disorders revised in 2015 includes 436 conditions, with a number of genes of 364. A practical algorithm for the evaluation of SS as well as therapeutic options are discussed.

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Section: Introductionmentioning

confidence: 99%

Challenges in the Management of Short Stature

Argente¹

2015

Horm Res Paediatr

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“…Growth hormone deficiency (GHD) typically manifests at the age between 4 and 8 years presenting with growth failure, retarded bone age, and low serum levels of IGF-1 [1,2]. GHD has to be distinguished from other chronic diseases and especially from norm variants associated with short stature [2,3,4,5]. The most frequent underlying norm variants of short stature accounting for ∼80% of all cases visiting a pediatric endocrinologist are familial short stature (FSS) and constitutional delay of growth (CDG) [2].…”

Section: Introductionmentioning

confidence: 99%

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Rothermel

Lass²,

Toschke³

et al. 2016

Horm Res Paediatr

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Background: Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. Methods: We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD. Results: Height standard deviation scores (SDS) did not change between birth and 6 months of life, while height SDS decreased significantly afterwards in GHD, FSS, and CDG. The loss of height SDS was higher in the first 2 years of life than between 2 and 5 years of life in children with CDG (-0.92 vs. -0.11; p = 0.003) or FSS (-0.79 vs. -0.01; p = 0.002). In idiopathic GHD, the loss of height SDS did not differ between the first 2 years of life and the next 3 years (-0.78 vs. -0.77; p = 0.821). Conclusion: Children with FSS and CDG showed a decline in height SDS mainly in the first 2 years of life, whereas the height SDS of children with idiopathic GHD decreased almost continuously over the first 5 years of life.

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“…Enamel hypoplasia can also be a hereditary condition (Robinson, Miller, and Worth1966). Stature is partly inherited from parents but also results from a variety of other intrinsic causes, including hormonal deficiencies in human Growth Hormone (hGH) or thyroid hormones, organ diseases such as Crohn's Disease or cystic fibrosis, genetic syndromes including Turner Syndrome, Noonan Syndrome, and Prader Willi Syndrome (Rogol and Hayden 2014).…”

Section: Celiac Disease Inferred From Pathological Morphologymentioning

confidence: 99%

Gluten-Free Rome: Celiac disease in the bioarchaeological record

Simpson

2017

SAJA

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Celiac disease, an autoimmune disorder triggered by consumption of the gluten protein, is theorized to have originated alongside the domestication of wheat during the European Agricultural Revolution, ca. 8 000 BCE (Freeman 2013). Human conditions that primarily affect soft tissue, like celiac disease, do not leave tangible evidence on the skeleton and therefore it is difficult to prove their presence. However, recent analyses have employed a suite of macroscopic, molecular, and chemical techniques to establish that a Roman Imperial (100–300 CE) individual from Cosa, Italy, likely suffered from celiac disease. This paper analyzes the works of these researchers and argues that this case study exemplifies modern bioarchaeology, which frequently requires an arsenal of methods beyond visual observation. Using similar syntheses of techniques bioarchaeologists can possibly identify celiac disease in individuals predating 100 CE, recreating the origins of celiac disease as well as tackling other previously ‘impossible’ research questions in this field.

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Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents

Cited by 141 publications

References 69 publications

Challenges in the Management of Short Stature

Challenges in the Management of Short Stature

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Gluten-Free Rome: Celiac disease in the bioarchaeological record

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