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The uncommon forms of congenital adrenal hyperplasia.
Auchus RJ. Auchus RJ. Curr Opin Endocrinol Diabetes Obes. 2022 Jun 1;29(3):263-270. doi: 10.1097/MED.0000000000000727. Curr Opin Endocrinol Diabetes Obes. 2022. PMID: 35621178 Free PMC article. Review.
In Brazil, 17-hydroxylase/17,20-lyase deficiency is the second most common, whereas 11-hydroxylase deficiency is most common in the Middle East. In Japan and Korea, both congenital lipoid adrenal hyperplasia and P450-oxidoreductase deficiency are more common …
In Brazil, 17-hydroxylase/17,20-lyase deficiency is the second most common, whereas 11-hydroxylase deficiency is most c …
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
İsakoca M, Erdeve Ş, Çetinkaya S. İsakoca M, et al. J Clin Res Pediatr Endocrinol. 2025 Jan 10;17(Suppl 1):23-32. doi: 10.4274/jcrpe.galenos.2024.2024-6-21-S. Epub 2024 Dec 23. J Clin Res Pediatr Endocrinol. 2025. PMID: 39713884 Free PMC article. Review.
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 (11beta-OHD), 3-beta-hydr …
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for m …
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E, Slone J, Gómez Cano MÁ, Campbell TM, Vu J, Sauter KS, Pandey AV, Martínez-Azorín F, Alonso-Riaño M, Neilson DE, Longo N, du Toit T, Voegel CD, Huang T, Flück CE. Pignatti E, et al. JCI Insight. 2024 Jun 17;9(14):e179071. doi: 10.1172/jci.insight.179071. JCI Insight. 2024. PMID: 38885337 Free PMC article.
We investigated 2 female patients with FRM carrying the potentially novel homozygous FDXR mutation p.G437R with ambiguous genitalia at birth and sudden death in the first year of life; they presented with cortisol deficiency and androgen excess compatible with 11-hydrox …
We investigated 2 female patients with FRM carrying the potentially novel homozygous FDXR mutation p.G437R with ambiguous genitalia at birth …
Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency.
Kennedy EC, Stack M, Carolan E, Durkan M, Joyce CM, Hawkes CP. Kennedy EC, et al. J Pediatr Endocrinol Metab. 2024 Sep 20;37(12):1100-1103. doi: 10.1515/jpem-2024-0194. Print 2024 Dec 17. J Pediatr Endocrinol Metab. 2024. PMID: 39295130
CASE PRESENTATION: An adolescent male was diagnosed with 11 beta-hydroxylase deficiency (11betaOHD) at 13 years of age when he presented with hypertension, fatigue and headaches. ...
CASE PRESENTATION: An adolescent male was diagnosed with 11 beta-hydroxylase deficiency (11betaOHD) at 13 years …
46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description.
Adriaansen BPH, Utari A, Westra D, Juniarto AZ, Ariani MD, Ediati A, Schröder MAM, Span PN, Sweep FCGJ, Drop SLS, Faradz SMH, van Herwaarden AE, Claahsen-van der Grinten HL. Adriaansen BPH, et al. Front Endocrinol (Lausanne). 2024 Aug 8;15:1410122. doi: 10.3389/fendo.2024.1410122. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39175568 Free PMC article.
INTRODUCTION: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of cortisol and overproduction of adrenal androgens. ...
INTRODUCTION: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency …
18 results