Research & Literature

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.

Bornstein SR, Allolio B, Arlt W, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(2)):364-89 doi:10.1210/jc.2015-1710.

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.

Üstyol A, Atabek ME, Taylor N, et al.

Journal of clinical research in pediatric endocrinology 2016; (8(3)):356-9 doi:10.4274/jcrpe.2824.

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

Bizzarri C, Olivini N, Pedicelli S, et al.

Italian journal of pediatrics 2016; (42(1)):73 doi:10.1186/s13052-016-0282-3.

Pseudohypoaldosteronism types I and II: little more than a name in common.

Casas-Alba D, Vila Cots J, Monfort Carretero L, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(5)):597-601.

A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.

Alfaraidi L, Alfaifi A, Alquaiz R, et al.

Case reports in endocrinology 2017; (2017()):8431475 doi:10.1155/2017/8431475.

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

Reznik Y, Barat P, Bertherat J, et al.

Annales d'endocrinologie 2018; (79(1)):1-22 doi:10.1016/j.ando.2017.12.001.

MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.

Miller WL

European journal of endocrinology 2018; (179(3)):R125-R141.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.

Lages AS, Vale B, Oliveira P, et al.

Archives of endocrinology and metabolism 2019; (63(1)):84-88 doi:10.20945/2359-3997000000107.

Human cytochrome P450 11B2 produces aldosterone by a processive mechanism due to the lactol form of the intermediate 18-hydroxycorticosterone.

Reddish MJ, Guengerich FP

The Journal of biological chemistry 2019; (294(35)):12975-12991 doi:10.1074/jbc.RA119.009830.

Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.

Miao H, Yu Z, Lu L, et al.

Steroids 2019; (150()):108448 doi:10.1016/j.steroids.2019.108448.

Vomiting and Cardiac Arrest in a 10-Year-Old Girl.

Zorko DJ, Samaan MC, Gupta R

Pediatric emergency care 2021; (37(12)):e1747-e1749 doi:10.1097/PEC.0000000000001957.

Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2

Turan H, Dağdeviren Çakır A, Özer Y, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(2)):232-238 doi:10.4274/jcrpe.galenos.2020.2019.0216.

Aldosterone-dependent and -independent regulation of Na+ and K+ excretion and ENaC in mouse kidneys.

Yang L, Frindt G, Xu Y, et al.

American journal of physiology. Renal physiology 2020; (319(2)):F323-F334 doi:10.1152/ajprenal.00204.2020.

Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.

Martín-Rivada Á, Argente J, Martos-Moreno GÁ

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(11)):1501-1505.

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.

Papailiou S, Vlachopapadopoulou EA, Sertedaki A, et al.

Endocrine regulations 2020; (54(3)):227-229.

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.

Gao J, Chen L

Frontiers in pediatrics 2020; (8()):464 doi:10.3389/fped.2020.00464.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Merakou C, Fylaktou I, Sertedaki A, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(1)):e182-e191 doi:10.1210/clinem/dgaa765.

Aldosterone signaling defect in young infants: single-center report and review.

Wijaya M, Ma H, Zhang J, et al.

BMC endocrine disorders 2021; (21(1)):149 doi:10.1186/s12902-021-00811-9.

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(1)):e106-e117 doi:10.1210/clinem/dgab619.

[Clinical and genetic analysis of an infant with aldosterone synthase deficiency].

Yang H, Chen Q, Zhang L, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(9)):865-868 doi:10.3760/cma.j.cn511374-20200302-00121.

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.

Wu YC, Chen CI, Chen PY, et al.

BMC bioinformatics 2022; (22(Suppl 10)):613 doi:10.1186/s12859-022-04561-w.

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Garrelfs MR, Rinne T, Hillebrand JJ, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(1)):95-101 doi:10.4274/jcrpe.galenos.2022.2022-3-4.

[Adrenal crisis in a child].

Holmberg NH, Haagensen AL

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2023; (143(2)) doi:10.4045/tidsskr.22.0354.

Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development.

Abrigo E, Munarin J, Bondone C, et al.

Italian journal of pediatrics 2023; (49(1)):63 doi:10.1186/s13052-023-01475-y.

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Ur Rehman S, Aftab S, Naseem A, et al.

Cureus 2023; (15(5)):e39181 doi:10.7759/cureus.39181.

Structural and clinical characterization of CYP11B2 inhibition by dexfadrostat phosphate.

Pignatti E, Kollar J, Hafele E, et al.

The Journal of steroid biochemistry and molecular biology 2023; (235()):106409 doi:10.1016/j.jsbmb.2023.106409.

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene.

Bravo Nieto D, García Fernández AS, Díaz Troyano N, et al.

Advances in laboratory medicine 2023; (4(2)):195-202 doi:10.1515/almed-2023-0018.

Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2.

Gerard R, Sauvestre C, Barat P, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024; (31(2)):157-160 doi:10.1016/j.arcped.2023.10.007.

Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in CYP11B2.

Ghaddhab C, Capper CP, Larrivée-Vanier S, et al.

Hormone research in paediatrics 2025; (98(1)):96-102 doi:10.1159/000536437.

Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.

Kamarajan LP, Mahto M, Kumar S, Kumar P

Laboratory medicine 2025; (56(4)):419-422 doi:10.1093/labmed/lmae102.

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Xie Y, Liu X, Tang J, Lan D

Endokrynologia Polska 2024; (75(6)):684-692 doi:10.5603/ep.101578.

Functional properties of the γ-ENaC-A635V mutation in a patient with severe hyponatremia.

Antoniadi M, Bohnet M, Kellenberger S, et al.

Hormones (Athens, Greece) 2025; (24(2)):581-587 doi:10.1007/s42000-025-00637-3.

Aldosterone synthase inhibition: a novel bullet to fight cardiovascular-kidney-metabolic syndrome.

Barrera-Chimal J, Vaidya A, Jaisser F

Journal of molecular endocrinology 2025; (75(3)).

A novel compound heterozygous mutation in CYP11B2 (p.A153P and p.Q337*) associated with primary hypoaldosteronism.

Yang J, Li L, Sun Y, et al.

Frontiers in medicine 2026; (13()):1740124 doi:10.3389/fmed.2026.1740124.

Congenital aldosterone deficiency and its resistance.

Tajima T, Amano N, Ishii T, et al.

Endocrine journal 2026; (73(6)):751-763 doi:10.1507/endocrj.EJ25-0630.

Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.

Wu Z, Li J, Sheng H, et al.

Translational pediatrics 2026; (15(3)):82 doi:10.21037/tp-2025-1-844.

Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency.

Ferrari V, Assirelli V, Bonaguri E, et al.

Endocrinology, diabetes & metabolism 2026; (9(4)):e70281 doi:10.1002/edm2.70281.

Deciphering aldosterone deficiency and pseudodeficiency in infancy by targeted GC-MS urinary steroid metabotyping.

Li H, Pons-Kühnemann J, Hartmann MF, Wudy SA

The Journal of steroid biochemistry and molecular biology 2027; (265()):107103 doi:10.1016/j.jsbmb.2026.107103.