GH levels were measured every 30 min during sleep over 9 h in 10 patients with Turner's syndrome ranging in age from 10.6-18.9 yr (mean, 15.0 +/- 2.7 yr) and in 12 controls matched for bone age, all of whom had normal GH responses to an orally administered dose of clonidine. We found no significant difference in the mean 9-h overnight GH concentration between groups. The overnight GH concentration was 3.8 +/- 2.2 micrograms/L (mean +/- SD) in Turner's syndrome patients and 4.5 +/- 2.4 micrograms/L in the control group. Total GH output (205.4 +/- 118.7 vs. 251.4 +/- 122.0 U), total number of nocturnal GH pulses (2.4 +/- 0.8 vs. 2.9 +/- 0.7), and mean peak GH response during nocturnal sampling (13.0 +/- 7.4 vs. 13.2 +/- 3.3 micrograms/L) were not different in the children with Turner's syndrome and the controls. We conclude that pubertal age patients with Turner's syndrome secrete GH normally and do not have any abnormality in GH regulation.
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http://dx.doi.org/10.1210/jcem-71-3-770 | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.
View Article and Find Full Text PDFGenomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFJ Pediatr Nurs
January 2025
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, United States of America. Electronic address:
Genomics is a lifespan competency that has relevance for pediatric nursing practice. Identifying individuals who could benefit from genomic healthcare can enable timely diagnosis and treatment to improve health and wellbeing outcomes. Nurse practitioners (NPs) must have genomic competency to provide high quality, comprehensive pediatric care and support families through the continuum of care.
View Article and Find Full Text PDFKardiol Pol
January 2025
2nd Department of Radiology, Medical University of Lublin, Lublin, Poland.
ERJ Open Res
January 2025
Centre for Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Introduction: Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity. disorders are genetic neurodegenerative conditions caused by biallelic repeat expansion sequences, commonly presenting with cough, followed by neurological features including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). The prevalence and identifying clinical characteristics of repeat-expansion disorders in patients with RCC are unknown.
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