Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%. Short stature in these patients arises from multiple causes, including feeding difficulties in infancy, comorbidities such as congenital heart disease, genetic heterogeneity, and disorders of the growth hormone/insulin-like growth factor-1 axis. Growth hormone is commonly used to alleviate symptoms of short stature. This article reviews the growth and development patterns at different stages of NS, analyzes the causes of short stature, and summarizes the latest advances in treatment to provide new insights for the diagnosis and management of short stature in patients with NS.
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http://dx.doi.org/10.7499/j.issn.1008-8830.2409047 | DOI Listing |
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Ann Bot
January 2025
Division of BioInvasions, Global Change & Macroecology, University of Vienna, Austria.
Background And Aims: Despite accelerating interest in island evolution, the general evolutionary trajectories of island flowers remain poorly understood. In particular the island rule, which posits that small organisms become larger and large organisms to become smaller after island colonization, while tested in various plant traits, has never been tested in flower size. Here, we provide the first test for the island rule in flower size for animal- and wind-pollinated flowers, and the first evidence for generalized in-situ evolution of flower size on islands.
View Article and Find Full Text PDFZhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
View Article and Find Full Text PDFBirth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Seasonality in the incidence of congenital hypothyroidism (CH) has been identified in several countries and different conclusions have been drawn. The objective of this study was to examine whether this seasonality is also observable in China and how it manifests across different temperate zones.
Methods: Data on CH cases and screened neonates between January 1, 2014, and September 30, 2022, by year and season, were sourced from the Chinese Newborn Screening Information System.
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