Review
Pediatrics
Zi Qiang Glen Liau, Yuhang Wang, Hong-Yi Lin, Chin Kai Cheong, Shobhit Gupta, James Hoi Po Hui
Summary: This review discusses the management of pediatric short stature, particularly in the case of disproportionate short stature caused by skeletal dysplasia. Early recognition of short stature and appropriate referrals can help alleviate parental concern and provide comprehensive care for improved quality of life. Advancements in clinical diagnostic tools and treatment options provide optimism for managing pediatric short stature.
CURRENT OPINION IN PEDIATRICS
(2022)
Review
Pediatrics
Riddhi Patel, Anurag Bajpai
Summary: Short stature is a common presentation in pediatric practice, with a significant overlap between physiology and pathology. Growth failure evaluation aims to avoid missing pathology while also avoiding unnecessary investigations for children with physiological causes.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Review
Endocrinology & Metabolism
Martin O. Savage, Helen L. Storr
Summary: Idiopathic short stature (ISS) is a term used for short children without a known cause; research on GH resistance is important for potentially misclassified children with mild GH resistance.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Reena Perchard, Philip George Murray, Peter Ellis Clayton
Summary: The evaluation of short children involves determining whether growth parameters are abnormal and conducting system and hormonal tests, as well as more targeted testing. Genetic analysis may be necessary for children whose diagnosis remains unclear. New genetic causes for short stature are continuously being discovered, expanding the clinical spectrum for known genes. The establishment of an international repository for short stature conditions is recommended for dissemination of knowledge and defining clinical spectrum.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Jing Qiao, Yue Chen, Ying Lu, Tiejun Wang, Xiaoli Li, Wei Qin, Aifen Li, Guangquan Chen
Summary: This study identified a syndrome associated with SLC22A18, with lower expression of this gene observed in patients with clinical characteristics of allergic allergy, short stature, and fatty liver.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Xin Li, Ruen Yao, Guoying Chang, Qun Li, Cui Song, Niu Li, Yu Ding, Juan Li, Yao Chen, Yirou Wang, Xiaodong Huang, Yongnian Shen, Hao Zhang, Jian Wang, Xiumin Wang
Summary: This study identified the diagnostic characteristics of next-generation sequencing in short stature with different risk factors and proposed novel candidate pathogenic genes. The results showed that short stature combined with other phenotypes significantly increased the likelihood of a monogenic cause.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Genetics & Heredity
Alice Costantini, Alessandra Guasto, Valerie Cormier-Daire
Summary: This article discusses the importance of the TGF-beta and BMP signaling pathways in bone development and skeletal health, as well as the genetic variants associated with skeletal dysplasia. The review provides a detailed description of the clinical features of patients, genetic findings, and the molecular mechanisms underlying the disease. The advances in pharmacological treatment targeting TGF-beta are also discussed.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
(2023)
Article
Endocrinology & Metabolism
Xiaoan Ke, Hanting Liang, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Hui Pan, Huijuan Zhu
Summary: NPR2 mutations are causative for idiopathic short stature, and patients with heterozygous mutations typically exhibit short stature, facial anomalies, and skeletal dysplasia. Treatment with rhGH significantly improves height SDS in patients with NPR2 mutations, with a higher response in younger patients and those with mutations in the carboxyl-terminal guanylyl cyclase catalytic domain. Further studies on the efficacy of rhGH treatment for these patients are warranted.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Isono Hara, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Summary: This study aimed to investigate the contribution of imprinting disorders (IDs) as (epi)genetic causes of SGA-SS and the molecular and phenotypic spectrum of Silver-Russell syndrome (SRS). The results showed that various IDs constitute underlying factors for SGA-SS, including SRS.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
P. Cavarzere, A. Pietrobelli, A. Gandini, S. Munari, A. M. Baffico, M. Maffei, R. Gaudino, A. Guzzo, M. Arrigoni, D. Coviello, G. Piacentini, F. Antoniazzi
Summary: Genetic analysis is a useful tool in diagnosing the causes of short stature. Syndromic genetic conditions and benign variants were identified in the study cohort. Variants of uncertain significance were also found, highlighting the importance of further research and understanding their potential effects.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew, Vivian Hwa, Philippe Backeljauw
Summary: This study aimed to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy for linear growth in children with ACAN deficiency. The results showed that rhGH treatment improved linear growth in these patients and no adverse events related to rhGH were observed.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lin Li, Lifen Chen, Yuanyan Yang, Junqi Wang, Li Guo, Jingjing An, Xiaoyu Ma, Wenli Lu, Yuan Xiao, Xinqiong Wang, Zhiya Dong
Summary: This study explores the potential relationship between gut microbiota, their metabolites, and idiopathic short stature disease (ISS). By comparing the gut microbiota and short-chain fatty acids (SCFAs) between children with ISS and those of normal height, the study shows that the composition of gut microbiota and the levels of its metabolites may be related to ISS pathogenesis. Specific strains with increased or decreased abundance could serve as biomarkers for diagnosing ISS.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Agronomy
Christopher J. Stubbs, Bharath Kunduru, Norbert Bokros, Virginia Verges, Jordan Porter, Douglas D. Cook, Seth DeBolt, Christopher McMahan, Rajandeep S. Sekhon, Daniel J. Robertson
Summary: This study quantifies the relationship between plant height and lodging resistance in maize. Both engineering analysis and field experiments indicate a nearly 1:1 relationship, suggesting that shorter plant height leads to higher lodging resistance.
FIELD CROPS RESEARCH
(2023)
Article
Endocrinology & Metabolism
Lea Lackner, Julia Hannah Quitmann, Stefanie Witt
Summary: The purpose of this study was to explore caregiving burden, health-related quality of life (HRQOL), stress, and individual resources of parents caring for children with isolated growth hormone deficiency (IGHD) or idiopathic short stature (ISS). The analysis of structured focus group discussions conducted on 33 parents of IGHD/ISS children aged 4 to 18 years showed that 26 out of the 33 parents reported mental stress due to their child's growth disorder. Social pressure and stigmatization were also mentioned as challenging issues. Some parents also faced difficulties with human growth hormone (hGH) treatment. Several parents expressed a desire for parent support groups. It is important for physicians to understand the caregiving burden, stress, and individual resources of parents of IGHD/ISS children in order to provide appropriate support and intervention.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pediatrics
Veronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, Fabio Sirchia, Egidio Barbi, Gianluca Tornese
Summary: This study identified three different types of familial short stature, including target height-related short stature, suspected autosomal dominant short stature, and constitutional familial short stature. Adequate measurement and consideration of children's and parents' heights are crucial in the clinical evaluation of children with short stature.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Ahmed S. N. Alhendi, Derek Lim, Shane McKee, Meriel McEntagart, Katriona Tatton-Brown, I. Karen Temple, Justin H. Davies, Deborah J. G. Mackay
Summary: Whole-genome sequencing (WGS) analysis revealed genetic variants in 27% of participants with Silver-Russell syndrome (SRS), including coding SNVs in genes such as CDKN1C, IGF2, IGF1R and ORC1, as well as maternal-effect variants and UPD regions. WGS is a valuable tool for diagnosing SRS and related disorders in cases where traditional molecular testing is inconclusive.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Endocrinology & Metabolism
Tim D. Cheetham, Michael Cole, Mario Abinun, Amit Allahabadia, Tim Barratt, Justin H. Davies, Paul Dimitri, Amanda Drake, Zainaba Mohamed, Robert D. Murray, Caroline A. Steele, Nicola Zammitt, Sonya Carnell, Jonathan Prichard, Gillian Watson, Sophie Hambleton, John N. S. Matthews, Simon H. S. Pearce
Summary: In this study, young patients with Graves hyperthyroidism were treated with a combination of RTX and short-term ATD, resulting in a remission rate of 48% at 24 months, indicating the potential of RTX in improving remission rates in young patients with Graves hyperthyroidism. A randomized trial of adjuvant RTX in this patient population is warranted.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Meera Shaunak, Lucy Side, Nadeem Afzal, Justin Huw Davies
Summary: An atypical presentation of a pathogenic STK11 gene variant was reported in siblings without meeting the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS). Endocrinological investigation is necessary for prepubertal gynaecomastia and prepubertal macro-orchidism, with PJS being an important differential diagnosis. Genetic testing and gastroenterological investigation of parents may aid in diagnosis.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Sarah E. Grosvenor, Justin H. Davies, Margaret Lever, Julie Sillibourne, Deborah J. G. Mackay, I. Karen Temple
Summary: This report presents a patient with clinical features of both Beckwith-Wiedemann syndrome and Temple syndrome, in whom epimutations were found at the imprinted regions associated with both syndromes, indicating the presence of multilocus imprinting disturbance. The study emphasizes the importance of testing for multilocus imprinting disturbance in diagnosing patients with atypical clinical presentations of imprinting disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Rebecca J. Moon, Laura D. F. Cooke, Stefania D'Angelo, Elizabeth M. Curtis, Philip Titcombe, Justin H. Davies, Keith M. Godfrey, Jane K. Cleal, Rohan M. Lewis, Cyrus Cooper, Nicholas C. Harvey
Summary: There is an association between specific single nucleotide polymorphisms (SNPs) in genes related to vitamin D metabolism pathway and cord blood 25(OH)D in both mothers and offspring, indicating a potential role of genetic factors in this relationship.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Rebecca J. Moon, Stefania D'Angelo, Sarah R. Crozier, Keith M. Godfrey, Justin H. Davies, Cyrus Cooper, Nicholas C. Harvey
Summary: This study found that the association between skull bone mineral density (BMD) and anthropometric, body composition, and dietary variables is weaker compared to other skeletal regions of interest (ROI) assessed by dual-energy X-ray absorptiometry (DXA). These findings provide a quantitative basis for the recommendation to exclude the skull from whole-body DXA analyses in children.
Article
Pediatrics
Rebecca Jane Moon, Justin Huw Davies
Summary: This study assessed the actual practice of pubertal staging by paediatricians and paediatric endocrinology nurse specialists in the UK. The study found that most clinicians consider pubertal staging an intimate examination, but documentation of consent and use of formal chaperones is not standard practice. Many respondents use a parent as a chaperone, and patient objections and availability of chaperones were perceived barriers to chaperone use.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Letter
Pediatrics
Justin Huw Davies, Molly Handcock, Paul Cook, Olivia Kaye, Rebecca Jane Moon
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Endocrinology & Metabolism
Samantha J. Case, Rebecca J. Moon, Tara Bharucha, Justin H. Davies
Summary: This case report highlights a previously unreported complication of cardiac thrombosis following zoledronate treatment in a child. Echocardiography should be considered to evaluate the cardiovascular status of children receiving zoledronate.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Review
Pediatrics
Talat Mushtaq, Salma R. Ali, Nabil Boulos, Roisin Boyle, Tim Cheetham, Justin Huw Davies, Charlotte Jane Elder, Hoong-Wei Gan, Peter C. Hindmarsh, Harshini Katugampola, Nils Krone, Maria Salomon Estebanez, Savitha Shenoy, Sally Tollerfield, Sze Choong Wong, Fiona Regan
Summary: Adrenal insufficiency (AI) is a condition where the adrenal glands fail to produce enough cortisol. It can be caused by primary adrenal dysfunction or secondary to hormonal deficiency or suppression. Children with AI may present with nonspecific symptoms such as poor growth, lethargy, weight loss, and abdominal pain. Treatment involves replacing cortisol with hydrocortisone, especially during times of stress. However, there are no standardized guidelines for managing AI in children under 18 in the UK, leading to significant variations in care. This paper aims to provide guidance for recognizing and treating AI and adrenal crisis in children and young people during illness, medical, dental, and surgical procedures.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Primary Health Care
H. L. Storr, J. Freer, J. Child, J. H. Davies
BRITISH JOURNAL OF GENERAL PRACTICE
(2023)
Editorial Material
Primary Health Care
Justin H. Davies, Jenny Child, Joseph Freer, Helen L. Storr
BRITISH JOURNAL OF GENERAL PRACTICE
(2023)
Article
Endocrinology & Metabolism
Martin O. Savage, Malcolm D. C. Donaldson, Justin H. Davies, Helen L. Storr
Summary: Paediatric endocrinology was recognized in Western European countries in the 1960s and 1970s, but its development varies in different countries. This review discusses the key stages in establishing modern centres and emphasizes the importance of determination, vision, and knowledge acquisition through international fellowships. Scientific societies and telemedicine models play important roles in supporting and networking with experienced colleagues.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Rebecca J. Moon, Stefania D'Angelo, Christopher R. Holroyd, Sarah R. Crozier, Keith M. Godfrey, Justin H. Davies, Cyrus Cooper, Nicholas C. Harvey
Summary: This study examines differential mother-offspring and father-offspring associations in body composition in early childhood. The results show a strong association between maternal fat mass and the fat mass of their daughters but not their sons, while there were weaker associations between the body composition of fathers and their children.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
Rebecca J. Moon, Harry D. Green, Stefania D'Angelo, Keith M. Godfrey, Justin H. Davies, Elizabeth M. Curtis, Cyrus Cooper, Nicholas C. Harvey
Summary: A systematic review and meta-analysis showed that moderate- to high-dose vitamin D supplementation during pregnancy has a positive effect on offspring bone mineralisation, with increased bone mineral density (BMD) in children aged 4-6 years and a smaller effect on bone mineral content.
OSTEOPOROSIS INTERNATIONAL
(2023)