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J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFZhonghua Nei Ke Za Zhi
February 2025
Department of Endocrinology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou450003, China.
Sensors (Basel)
January 2025
Wearable and Gait Assessment Research (WAGAR) Group, Prince of Wales Private Hospital, Randwick, NSW 2031, Australia.
Introduction: Gait analysis is a vital tool in the assessment of human movement and has been widely used in clinical settings to identify potential abnormalities in individuals. However, there is a lack of consensus on the normative values for gait metrics in large populations. The primary objective of this study is to establish a normative database of spatiotemporal gait metrics across various age groups, contributing to a broader understanding of human gait dynamics.
View Article and Find Full Text PDFCells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Obstetrics and Gynaecology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder marked by the congenital absence of the uterus and vagina. Patients with this condition often present with primary amenorrhoea and normal secondary sexual characteristics. The diagnosis of MRKH syndrome has profound implications for a patient's fertility and psychological well-being, necessitating a multidisciplinary approach that includes psychosocial support.
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