A recent longitudinal study in children with cystic fibrosis (CF) challenged the common idea that CF is causing short stature. The data, however, showed clearly that short stature cannot be explained by CF alone after the first year of life. We report on a girl suffering from CF and short stature in whom DNA analysis using polymerase chain reaction and Southern blot techniques of the human growth hormone (hGH) gene cluster revealed a 6.7-kb gene deletion encompassing the hGH-1 gene. Anti-hGH antibodies of polyclonal origin developed, leading to a growth arrest after only 2 months of hGH replacement. In addition, a family study was performed, and the haplotypes of the CF gene and hGH gene cluster were analyzed.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1159/000182097 | DOI Listing |
Plant Physiol Biochem
January 2025
Modern Protected Horticulture Engineering & Technology Center, College of Horticulture, Shenyang Agricultural University, China; National & Local Joint Engineering Research Center of Northern Horticultural Facilities Design & Application Technology (Liaoning), Shenyang, China; Key Laboratory of Protected Horticulture (Shenyang Agricultural University), Ministry of Education, Shenyang, China; Key Laboratory of Horticultural Equipment, Ministry of Agriculture and Rural Affairs, Shenyang, China. Electronic address:
Plant height is a key trait that significantly influences plant architecture, disease resistance, adaptability to mechanical cultivation, and overall economic yield. Galactinol synthase (GolS) is a crucial enzyme involved in the biosynthesis of raffinose family oligosaccharides (RFOs). It plays a significant role in carbohydrate transport and storage, combating abiotic and biotic stresses, and regulating plant growth and development.
View Article and Find Full Text PDFAchondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3). As current surgical and pharmaceutical treatments only partially improve some disease features, we sought to explore a genetic approach. We show that an enhancer located 29 kb upstream of mouse Fgfr3 (-29E) is sufficient to confer a transgenic mouse reporter with a domain of expression in cartilage matching that of Fgfr3.
View Article and Find Full Text PDFSisli Etfal Hastan Tip Bul
December 2024
Division of Pediatric Endocrinology, Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye.
Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.
View Article and Find Full Text PDFNat Rev Nephrol
January 2025
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, endo ERN and ERN BOND, Paris, France.
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!