CAH due to 11β-hydroxylase deficiency - same same but different!

Therina du Toit^{1

2}, Christa Flück^{2

3}

Affiliations

¹ Department of Nephrology and Hypertension, University Hospital Bern, Bern, Switzerland.
² Department of BioMedical Research, University of Bern, Bern, Switzerland.
³ Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Editorial

Therina du Toit et al. J Clin Endocrinol Metab. 2025.

. 2025 Oct 27:dgaf576.

doi: 10.1210/clinem/dgaf576. Online ahead of print.

Therina du Toit^{1

2}, Christa Flück^{2

3}

¹ Department of Nephrology and Hypertension, University Hospital Bern, Bern, Switzerland.
² Department of BioMedical Research, University of Bern, Bern, Switzerland.
³ Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

No abstract available

Keywords: 11β-hydroxylase deficiency; CYP11B1; congenital adrenal hyperplasia; genetics; phenotype-genotype; splicing.

Comment on

A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohort.
Janot C, Mallet D, Janin A, Bertherat J, Brauner R, Brioude F, Cartault A, Daval-Cote M, Espiard S, Houang M, Kraus Friedmann J, Lefebvre H, Martinerie L, Mayer A, Mazoyer H, Menassa R, Morel Y, Pienkowski C, Ribault V, Plotton I, Teoli J, Brac de La Perrière A, Roucher-Boulez F. Janot C, et al. J Clin Endocrinol Metab. 2025 Aug 19:dgaf468. doi: 10.1210/clinem/dgaf468. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40827356