We present an interesting case of porphria cutanea tarda with hereditary haemochromatosis and non-classical congenital adrenal hyperplasia in a postmenopausal woman. This unusual combination of conditions does not appear to be reported in the literature. The exact mechanism causing porphyria in this patient is not clear. We consider the possibility that in addition to iron accumulation and excess alcohol, altered steroid milieu may have been a possible trigger for the development of bullous lesions in this patient.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1258/acb.2011.011170 | DOI Listing |
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
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 (). 21-hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
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 (21-OHD) caused by mutations in . Although 21-OHD 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 PDFZhonghua 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.
Front Endocrinol (Lausanne)
December 2024
Department of Endocrinology, Centre of Postgraduate Medical Education, Warsaw, Poland.
In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is suspected. In the classic 21-hydroxylase deficiency, randomly timed measurements of 17-OHP are generally significantly elevated using different immunoassays.
View Article and Find Full Text PDFJ Ayub Med Coll Abbottabad
November 2024
Faisalabad Medical University, Faisalabad-Pakistan.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!