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Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
January 2025
University of Health Sciences Turkey, Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.
View Article and Find Full Text PDFA Cross-Sectional Study of Congenital Adrenal Hyperplasia.
Cureus
June 2024
Pediatrics Department, Abderrahim Harouchi Mother-Child Hospital, Ibn Rochd University Hospital, Casablanca, MAR.
Article Synopsis
- * A study at Abderrahim Harrouchi Children's Hospital analyzed 184 CAH cases over 11 years, finding that most diagnoses occurred early (median age 1.5 months) and that a high percentage of families reported consanguinity and previous fatalities related to the condition.
- * The most common form of CAH was the classic type (72%), with the majority showing 21-hydroxylase deficiency, and 40.7% of affected children required
Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.
Endocrine
August 2024
Ege University Faculty of Medicine, Endocrinology and Metabolism, Izmir, Turkey.
Background And Aims: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide.
View Article and Find Full Text PDFHigh carrier frequency of a nonsense p.Trp230* variant in gene in Ossetians.
Front Endocrinol (Lausanne)
June 2023
Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.
Background: Congenital adrenal hyperplasia (CAH) caused by 3β-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. Previously we have demonstrated that a single nucleotide variant (SNV) p.Trp230* in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.
View Article and Find Full Text PDFCancer-associated fibroblast-secreted glucosamine alters the androgen biosynthesis program in prostate cancer via HSD3B1 upregulation.
J Clin Invest
April 2023
Genitourinary Malignancies Research Center, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
After androgen deprivation, prostate cancer frequently becomes castration resistant (CRPC), with intratumoral androgen production from extragonadal precursors that activate the androgen receptor pathway. 3β-Hydroxysteroid dehydrogenase-1 (3βHSD1) is the rate-limiting enzyme for extragonadal androgen synthesis, which together lead to CRPC. Here, we show that cancer-associated fibroblasts (CAFs) increased epithelial 3βHSD1 expression, induced androgen synthesis, activated the androgen receptor, and induced CRPC.
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