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Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
View Article and Find Full Text PDFCongenital Adrenal Hyperplasia in Children: The Relationship between Plasma Renin Activity and Hypertension.
Iran J Med Sci
June 2024
Department of Child Health, Faculty of Medicine, Universitas Indonesia Jakarta, Indonesia.
Article Synopsis
- This study investigates the link between plasma renin activity (PRA) and hypertension in children with 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH).
- It was conducted with 40 CAH patients in Jakarta, finding that 50% had hypertension, particularly more common in salt-wasting CAH than in simple virilizing types.
- The results suggest that lower PRA levels increase the risk of hypertension, especially in those with salt-wasting CAH.
Quantitative Characterization of Ectopic Adrenal Gene Expression in Fetal Testes in 21-Hydroxylase Deficient Mice.
Horm Metab Res
January 2024
Medizinische Klinik IV, LMU Klinikum München, Munich, Germany.
Testicular adrenal rest tumors (TART) are a frequent and fertility impairing long-term complication in males with classic congenital adrenal hyperplasia. Due to lack of clear experimental data on their origin, they are hypothesized to be derived from ectopic adrenocortical cells within testicular tissue mainly growing upon stimulation by chronically elevated levels of adrenocorticotropin (ACTH). Alternatively, a more totipotent embryological origin has been discussed as the potential source of these tumors.
View Article and Find Full Text PDFAdeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia.
Hum Gene Ther
August 2022
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by steroidogenic enzymes containing monogenetic defects. Most steroidogenic enzymes are cytochrome P450 groups that can be categorized as microsomal P450s, including 21-hydroxylase and 17α-hydroxylase/17,20 lyase, and mitochondrial P450s, including 11β-hydroxylase. It has been shown that ectopic administration of ameliorates steroid metabolism in 21-hydroxylase-deficient mice.
View Article and Find Full Text PDFPOR polymorphisms are associated with 21 hydroxylase deficiency.
J Endocrinol Invest
October 2021
Division of Endocrinology, Diabetes and Metabolism, Department Medical Sciences, University of Turin, Turin, Italy.
Purpose: Genotype-phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may contribute to the phenotype. Aim of the present study was to evaluate whether polymorphisms in the p450 oxidoreductase (POR) gene may affect clinical features in patients with 21 hydroxylase deficiency METHODS: Sequencing of the POR gene was performed in 96 patients with 21 hydroxylase deficiency (49 classic, 47 non-classic) and 43 control subjects.
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