Context: The delayed growth of a child is a major cause of concern for the parents. There is a multitude of etiological factors which must be considered in relation to this common aspect of healthcare.
Aim: The study was done to evaluate the etiological profile of short stature in children and adolescents.
Settings And Design: The cross-sectional study was conducted for 12 months including 111 cases of short stature (out of the 1,058 cases screened), at the endocrinology outpatient department (OPD) of a tertiary care institute in Haryana.
Subjects And Methods: As per the inclusion criteria, cases with age <18 years were enrolled. The examination and anthropometric measurements were performed in the presence of parents/guardians.
Results: Out of the 1,058 cases screened; 111 cases of short stature were recruited as per the inclusion and exclusion criteria. The prevalence was about 10.49% of the total population. The mean age of the sample was 12.34 ± 3.19 years. The endocrine causes were the most common followed by normal variants of growth and delay, chronic systemic illness, and nutritional and skeletal causes. Among the endocrine causes, hypothyroidism was the most common followed by growth hormone deficiency and type 1 diabetes mellitus (T1DM).
Conclusions: The mean chronological age of 12.34 ± 3.19 years suggests the delayed detection of short stature in the population. This highlights the importance of educating parents so that timely therapeutic intervention can be done to achieve the potential height.
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http://dx.doi.org/10.4103/ijem.ijem_129_21 | DOI Listing |
Pak J Pharm Sci
January 2025
Department of Pediatrics, Changxing Peoples' Hospital Pediatrics, Huzhou, Zhejiang Province, China.
Recombinant human growth hormone (rhGH) injections combined with Anastrozole are increasingly used to treat adolescent idiopathic short stature (ISS), warranting further research. This study evaluated their effects on height, growth rate and adverse reactions in 72 adolescents with ISS treated at our hospital from December 2021 to December 2022. Patients were divided into a control group (rhGH alone) and a study group (rhGH + Anastrozole).
View Article and Find Full Text PDFJ Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFEur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFJ Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX 77030, USA.
Pseudoachondroplasia (PSACH), a severe dwarfing condition characterized by impaired skeletal growth and early joint degeneration, results from mutations in cartilage oligomeric matrix protein (COMP). These mutations disrupt normal protein folding, leading to the accumulation of misfolded COMP in chondrocytes. The MT-COMP mouse is a murine model of PSACH that expresses D469del human COMP in response to doxycycline and replicates the PSACH chondrocyte and clinical pathology.
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