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Short Stature
Published in Michael B O’Neill, Michelle Mary Mcevoy, Alf J Nicholson, Terence Stephenson, Stephanie Ryan, Diagnosing and Treating Common Problems in Paediatrics, 2017
Michael B O’Neill, Michelle Mary Mcevoy, Alf J Nicholson, Terence Stephenson, Stephanie Ryan
Idiopathic short stature is defined as height >2 SDs below the corresponding mean height for a given age, sex and population group without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities, and normal stimulated growth hormone levels. Children with idiopathic short stature can be classified as having either familial short stature or constitutional delay of growth.
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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Beckwith–Wiedemann’s syndrome is associated with tall stature, whereas the rest are all associated with short stature. Any chronic disease such as cystic fibrosis, Crohn’s disease and asthma may be a cause for short stature. Other causes of short stature include dysmorphic syndromes, nutritional deficiencies, low birthweight due to intrauterine growth restriction, skeletal dysplasias such as achondroplasia, familial short stature (due to short parents), psychosocial deprivation and constitutional delay of growth and puberty. Hormonal causes of short stature include growth hormone deficiency or insufficiency, hypothyroidism and Cushing’s syndrome. In the absence of a cause, idiopathic short stature is diagnosed. The use of growth hormone in the treatment of idiopathic short stature has been a contentious issue, with some considering it to be a punishment for short stature, arguing, with some merit, that we should help the child in acquiring important coping skills to deal with their shorter stature (Brook, 1997). A reasonable start would be to not ‘medicalise’ idiopathic short stature and reassure the child and his or her parents that the child is normal. However, studies have shown that growth hormone administration in children with idiopathic short stature is effective in partially reducing the height deficit as an adult, albeit not by a huge amount (Deodati and Cianfarani, 2011). One may often find oneself in a situation where well-informed parents will demand growth hormone in such cases to maximise the growth potential of their child. The potential risk of cancer and the stigmatisation of an otherwise normal child should be considered before prescribing growth hormone in such cases. One is also duty bound to contemplate the ethical considerations of ‘cosmetic’ growth hormone administration in a cash-strapped National Health Service.
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review
Published in Disability and Rehabilitation, 2022
Constantinos Constantinides, Sarah H. Landis, James Jarrett, Jennifer Quinn, Penelope J. Ireland
Various studies have considered the association between stature/height, or changes in height (due to treatment) and QoL outcomes in the general population and other short stature conditions [12–16]. Marked reductions in QoL scores were observed in individuals with height deficits −2 to −3 SDS, both in the general adult population [12], and in young patients with growth hormone deficiency (GHD) or idiopathic short stature (ISS) [13]. Recent publications have demonstrated that treatment with recombinant growth hormone in subjects with GHD/ISS is associated with improvement in QoL scores, across physical, emotional, and social domains [14–16]. Given the severity of the height deficit in ACH, is more pronounced than that commonly observed in GHD/ISS, it may follow that patients with ACH could experience even greater QoL impacts. Further, in contrast to GHD/ISS, patients with ACH have few treatment options, which in other disease areas has been shown to be an independent predictor of QoL [17]. For example, growth hormone treatment in ACH contributes to a relatively limited gain in final adult height, and no clear long-term benefits on body proportionality have been established [18,19]. In some countries, patients with ACH receive limb lengthening procedures that increase lower and upper limb length with the aim of improving stature and body proportionality [5,20–22]. These procedures typically require multiple surgeries, extended recovery time, risk of infection, and other complications related to stretching of non-skeletal tissues including nerves and blood vessels [5,23–25].
TransCon human growth hormone for children with growth hormone deficiency: a technology evaluation
Published in Expert Opinion on Drug Delivery, 2022
Jéssica Barreto Ribeiro Dos Santos, Michael Ruberson Ribeiro Da Silva
Lonapegsomatropin-tcgd was found to be safe and well tolerated [24,32,33]. A phase 3 randomized, open-label, multinational trial (heiGHt trial) evaluated treatment-naïve children diagnosed with Tanner stage 1 with GHD isolated or as part of multiple pituitary hormone deficiency. Children with exposure to somatropin or IGF-1 therapies; a history of malignancy (clinically cured tumors permitted); evidence of contemporaneous malnourishment, idiopathic short stature, small for gestational age, or other non-GHD related causes of short stature; or a prior diagnosis of or receiving treatment for other major medical conditions in which the disease and/or treatment might affect longitudinal growth were excluded. The heiGHt trial reported that 81 (77.1%) and 39 (69.6%) of patients treated with lonapegsomatropin-tcgd and daily somatropin experienced some adverse event, with 11.4% and 17.9% being related to treatment, respectively. Upper respiratory tract infection, pyrexia, and headache were the most common adverse events for both drugs. Overall, the adverse events of the drugs were similar [33].
Does stunting still matter in high-income countries?
Published in Annals of Human Biology, 2023
Joseph Freer, Joanna Orr, Robert Walton, Helen L. Storr, Leo Dunkel, Andrew J. Prendergast
Furthermore, the term “stunting” is not in common use in HICs, where “idiopathic short stature” (ISS) is instead used as a diagnostic label among the small proportion of children with short stature of unknown aetiology who are referred for specialist investigations (Grote et al. 2007; Pedicelli et al. 2009). ISS is a diagnosis of exclusion, and the approach to investigation and intervention is usually biomedical – potentially neglecting the political, psychosocial, and economic factors that are well established in the aetiology of stunting in LMICs (Cohen et al. 2008; World Health Organization 2016).