Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11640052 | PMC |
| http://dx.doi.org/10.61622/rbgo/2024FPS11 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Treatment and follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkiye.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21 hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFClinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkiye.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.
View Article and Find Full Text PDFNonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in women: diagnosis and treatment: Number 11 - 2024.
Rev Bras Ginecol Obstet
November 2024
Universidade Estadual de Campinas Faculdade de Ciências Médicas Departamento de Tocoginecologia CampinasSP Brazil Departamento de Tocoginecologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Women With Congenital Adrenal Hyperplasia Have Favorable Pregnancy Outcomes but Prolonged Time to Conceive.
J Endocr Soc
November 2024
Medizinische Klinik and Poliklinik IV, Klinikum der Universität München, LMU München, Munich 80336, Germany.
Objective: To study pregnancy outcomes and complications in women with congenital adrenal hyperplasia (CAH).
Methods: A retrospective multicenter study was conducted at tertiary reference centers in 5 countries (Austria, Germany, Italy, Sweden, USA), including 72 adult women with CAH (nonclassic [NC] n = 34, simple virilizing [SV] n = 21, salt wasting [SW] n = 17).
Results: A total of 133 pregnancies, 112 live births, and 25 abortions were documented.
[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Department of Endocrinology and Inborn Metabolic Diseases, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian 350000, China.
Objective: To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics.
Methods: LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children's Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!