Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral density to one that includes bone quality. This may be particularly important in the young adult, where the aetiological cause of osteoporosis may be a primary genetic condition or secondary to another chronic condition

Ahmed, Syed Faisal

Choong, Wong Sze

Gallacher, Stephen

English

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Paediatric Endocrinology  Editorial
TOUCH MEDICAL MEDIA 43
Assessing Osteoporosis in the Young Adult
Wong Sze Choong,1 Stephen Gallacher2 and Syed Faisal Ahmed3
1. Honorary Consultant Paediatric Endocrinology, Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow; 
2. Consultant Physician and Endocrinologist, Diabetes Centre, Southern General Hospital, Glasgow; 3 Consultant Paediatric Endocrinologist, 
Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow, UK
Abstract
Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The 
emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral density to one 
that includes bone quality. This may be particularly important in the young adult, where the aetiological cause of osteoporosis may be a 
primary genetic condition or secondary to another chronic condition. 
Keywords
Osteoporosis, young adult, chronic disease, dual energy absorptiometry, peripheral quantitative computer tomography, magnetic 
resonance imaging, bone biopsy
Fragility fractures in the young individual are an uncommon clinical 
scenario, and when faced with such a situation, appropriate 
assessment is required to ensure correct diagnosis of the underlying 
aetiology and to avoid unnecessary interventions. Although primary 
causes of osteoporosis, such as osteogenesis imperfecta, are 
considered rare, this group of conditions has considerable phenotypic 
and genotypic heterogeneity and may be underdiagnosed.1 However, 
most young people with fragility fractures have a secondary cause 
as the underlying aetiology. This may include a range of chronic 
diseases and medications that can affect bone turnover, modelling 
or bone mineral homeostasis.2 In light of the increasing prevalence 
of young adults with childhood-onset chronic disease, it is likely 
that more people with such conditions will require an assessment 
of bone health in early adulthood. The diagnosis of osteoporosis 
in the young adult remains contentious. In growing children, 
interpretation of results and changes need to take into account the 
differences in stature, growth and pubertal development, as well 
as the poor evidence that exists in this population for dual-energy 
absorptiometry bone mineral density (DXA BMD) as a predictor of 
fractures.3 The International Society of Clinical Densitometry (ISCD) 
recommends that growing children and adolescents (5–19 years) 
should not be diagnosed with osteoporosis solely based on low 
BMD by DXA, with a greater focus on the presence of pathological 
fractures, such that the diagnosis of vertebral fractures alone is 
indicative of osteoporosis in the younger individual regardless of 
DXA parameters.4 A stronger emphasis on vertebral morphometry 
is thus, becoming more routine in the assessment of osteoporosis. 
With technological advances, it is likely that identification of bone 
deficits will move away from techniques such as DXA to those that 
can provide more integrated, yet quantitative, assessment of bone 
quality through non-invasive techniques, such as high-resolution 
magnetic resonance imaging (MRI) or computed tomography (CT)5–7 or 
peripheral computer tomography (pQCT), such as microindentation, 
which can be performed in the clinic setting.8 
A careful history for systemic symptoms suggestive of an underlying 
chronic disease or endocrine disorder is crucial. Information on 
fracture history, including age of fractures, mechanism of injury and 
review of bone imaging, should be performed, too. Family history, 
menstrual pattern in females, dieting, exercise and medication 
history (including over-the-counter medication) and alcohol 
consumption should be obtained. Physical examination should 
include assessment of height and weight and pubertal assessment, 
especially in adolescents and young adults in their 20s. Testicular 
examination is important, as men with Klinefelter Syndrome may not 
have the classic body habitus but will invariably have relatively small 
testes. Deformities at site of previous fractures, hypermobility and 
blue sclerae, in some, may be suggestive of osteogenesis imperfecta. 
Laboratory investigations should be aimed at identifying an underlying 
medical or genetic condition that may lead to the skeletal abnormality. 
Elevated bone turnover markers are often seen acutely after a 
fracture, and their reference ranges are very wide to be clinically 
helpful for initial diagnostic assessment, but low alkaline phosphatase 
(ALP) may be an indicator of hypophosphtasia. DXA BMD z scores 
should be assessed in individuals younger than 25 years. In growing 
adolescents as well as those whose height are outwith the normal 
range, adjustment for size is also essential. Evaluation of BMD, bone 
geometry and bone stiffness may also be considered using MRI, CT 
and microindentation, but these techniques require further validation. 
In a small subset of individuals, dynamic bone histomorphometry by 
Publication Date: 11 April 2015
Disclosure: Wong Sze Choong, Stephen Gallacher and Syed Faisal Ahmed have no conflicts of interest to disclose. No funding was received for the publication of this article.
Open Access: This article is published under the Creative Commons Attribution Noncommercial License, which permits any non-commercial use, distribution, adaptation 
and reproduction provided the original author(s) and source are given appropriate credit. © The Author(s) 2015
Received: 27 February 2015 Published Online: 10 April 2015 European Endocrinology, 2015;11(1):43–4 DOI: 10.17925/EE.2015.11.01.43
Correspondence: Syed Faisal Ahmed, Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital for Sick Children, Yorkhill, 
Glasgow G3 8SJ, UK. E: Faisal.ahmed@glasgow.ac.uk
44
Paediatric Endocrinology  Editorial
EUROPEAN ENDOCRINOLOGY
a transiliac crest biopsy is indicated, especially when the aetiology 
is unclear in situations such as idiopathic juvenile osteoporosis.9,10 
Understanding the aetiology in such cases of osteoporosis may 
also improve the rationale for the use of bone anabolic therapy 
as opposed to anti-resorptive therapy.11
In conclusion, osteoporosis in the young adult that is associated with a 
fragility fracture is relatively rare and needs careful assessment for an 
underlying aetiology before treatment is initiated. With technological 
advances, it is likely that a qualitative assessment of bone will 
increasingly become incorporated into clinical practice. ■
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conundrum of primary osteoporosis: aetiopathogenesis, 
diagnosis, and treatment, Ital J Pediatr, 2014;7;40:55.
2. Ahmed SF, Elmantaser M, Secondary osteoporosis,  
Endocr Dev, 2009;16:170–90. 
3. Wong SC, Khanna S, Rashid R, et al., Auditing bone 
densitometry and fractures in children with chronic disease, 
Arch Dis Child, 2008;93:705–7. 
4. Gordon CM, Leonard MB, Zemel BS, 2013 Pediatric Position 
Development Conference: executive summary and 
reflections, J Clin Densitom, 2014;17:219–24.
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6. McComb C, Harpur A, Yacoubian C, et al., MRI-based 
abnormalities in young adults at risk of adverse bone health 
due to childhood-onset metabolic and endocrine conditions, 
Clin Endocrinol (Oxf), 2014;80:811–7.
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trabecular bone microarchitecture in young women with  
type 1 diabetes mellitus, J Bone Miner Res, 2015; Epu ahead 
of print. 
8. Farr JN, Drake MT, Amin S, et al., In vivo assessment 
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diabetes, J Bone Miner Res, 2014;29:787–95. 
9. Mäyränpää MK, Tamminen IS, Kröger H, et al., Bone biopsy 
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Assessing osteoporosis in the young adult

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Assessing osteoporosis in the young adult

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