Research & Literature

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, et al.

Journal of medical genetics 2015; (52(9)):636-41 doi:10.1136/jmedgenet-2015-103078.

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.

Chan LF, Campbell DC, Novoselova TV, et al.

Frontiers in endocrinology 2015; (6()):113 doi:10.3389/fendo.2015.00113.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, et al.

European journal of medical genetics 2015; (58(12)):642-9.

Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.

Tsai SL, Green J, Metherell LA, et al.

Hormone research in paediatrics 2016; (85(1)):35-42 doi:10.1159/000441843.

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.

Disorders in the initial steps of steroid hormone synthesis.

Miller WL

The Journal of steroid biochemistry and molecular biology 2017; (165(Pt A)):18-37 doi:10.1016/j.jsbmb.2016.03.009.

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.

Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, et al.

European journal of endocrinology 2016; (175(1)):73-84 doi:10.1530/EJE-16-0056.

ACTH Antagonists.

Clark AJ, Forfar R, Hussain M, et al.

Frontiers in endocrinology 2016; (7()):101 doi:10.3389/fendo.2016.00101.

Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.

Chen C, Zhou R, Fang Y, et al.

Molecular genetics and metabolism reports 2016; (9()):15-7 doi:10.1016/j.ymgmr.2016.09.003.

Conduct protocol in emergency: Acute adrenal insufficiency.

Fares AB, Santos RA

Revista da Associacao Medica Brasileira (1992) 2016; (62(8)):728-734 doi:10.1590/1806-9282.62.08.728.

A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation.

Sarkar UK, Sarma N, Debbarma S, et al.

Indian journal of dermatology 2017; (62(2)):191-194 doi:10.4103/ijd.IJD_716_16.

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.

Flück CE

European journal of endocrinology 2017; (177(3)):R99-R111.

Early diagnosis in familial glucocorticoid deficiency.

Al Jneibi F, Hen T, Rajah J, Nair R

Dermato-endocrinology 2017; (9(1)):e1310787 doi:10.1080/19381980.2017.1310787.

Adrenal insufficiency - recognition and management.

Pazderska A, Pearce SH

Clinical medicine (London, England) 2017; (17(3)):258-262 doi:10.7861/clinmedicine.17-3-258.

Group 6. Modalities and frequency of monitoring of patients with adrenal insufficiency. Patient education.

Guignat L, Proust-Lemoine E, Reznik Y, Zenaty D

Annales d'endocrinologie 2017; (78(6)):544-558 doi:10.1016/j.ando.2017.10.009.

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.

Local Corticotropin-Releasing Factor Signaling in the Hypothalamic Paraventricular Nucleus.

Jiang Z, Rajamanickam S, Justice NJ

The Journal of neuroscience : the official journal of the Society for Neuroscience 2018; (38(8)):1874-1890 doi:10.1523/JNEUROSCI.1492-17.2017.

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.

Burget L, Parera LA, Fernandez-Cancio M, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-18-0003.

Therapeutic patient education in adrenal insufficiency.

Guignat L

Annales d'endocrinologie 2018; (79(3)):167-173 doi:10.1016/j.ando.2018.03.002.

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation.

Novoselova TV, Hussain M, King PJ, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018; fj201701274RR doi:10.1096/fj.201701274RR.

Primary adrenal insufficiency in children: Diagnosis and management.

Kirkgoz T, Guran T

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):397-424 doi:10.1016/j.beem.2018.05.010.

A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.

Khattab A, Nelson-Williams C, Cabreza V, et al.

Annals of the New York Academy of Sciences 2018; (1433(1)):7-11 doi:10.1111/nyas.13962.

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

Settas N, Persky R, Faucz FR, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(5)):1484-1490 doi:10.1210/jc.2018-02238.

Isolated glucocorticoid deficiency: Genetic causes and animal models.

Maharaj A, Maudhoo A, Chan LF, et al.

The Journal of steroid biochemistry and molecular biology 2019; (189()):73-80 doi:10.1016/j.jsbmb.2019.02.012.

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.

Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century.

Halpin KL, Paprocki EL, McDonough RJ

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(5)):513-518.

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

Polat R, Ustyol A, Tuncez E, Guran T

Journal of endocrinological investigation 2020; (43(2)):185-196 doi:10.1007/s40618-019-01099-2.

Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report.

Uyangoda K, Kamalanathan P, Mettananda S

Journal of medical case reports 2019; (13(1)):280 doi:10.1186/s13256-019-2206-5.

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.

The management of glucocorticoid deficiency: Current and future perspectives.

Dineen R, Martin-Grace J, Thompson CJ, Sherlock M

Clinica chimica acta; international journal of clinical chemistry 2020; (505()):148-159 doi:10.1016/j.cca.2020.03.006.

Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.

Berruien NNA, Smith CL

Gene 2020; (757()):144949 doi:10.1016/j.gene.2020.144949.

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.

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Çamtosun E, Dündar İ, Akıncı A, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(1)):88-99 doi:10.4274/jcrpe.galenos.2020.2020.0132.

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

Capalbo D, Moracas C, Cappa M, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(3)):762-773 doi:10.1210/clinem/dgaa881.

New Cutoffs for the Biochemical Diagnosis of Adrenal Insufficiency after ACTH Stimulation using Specific Cortisol Assays.

Javorsky BR, Raff H, Carroll TB, et al.

Journal of the Endocrine Society 2021; (5(4)):bvab022 doi:10.1210/jendso/bvab022.

A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.

Özbek MN, Demiral M, Unal E, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(11)):1463-1468 doi:10.1515/jpem-2021-0150.

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia.

Lousada LM, Mendonca BB, Bachega TASS

Archives of endocrinology and metabolism 2021; (65(4)):488-494.

Pediatric Adrenal Insufficiency: Challenges and Solutions.

Nisticò D, Bossini B, Benvenuto S, et al.

Therapeutics and clinical risk management 2022; (18()):47-60 doi:10.2147/TCRM.S294065.

[Emergency card, emergency medication, and information leaflet for the prevention and treatment of adrenal crisis (Addison crisis): an Austrian consensus document].

Pilz S, Krebs M, Bonfig W, et al.

Journal fur klinische Endokrinologie und Stoffwechsel 2022; (15(1)):5-27 doi:10.1007/s41969-022-00155-2.

Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.

Ali SR, Bryce J, Krone NP, et al.

Hormone research in paediatrics 2022; (95(4)):363-373 doi:10.1159/000525075.

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

Krasovec T, Sikonja J, Zerjav Tansek M, et al.

Genes 2022; (13(5)) doi:10.3390/genes13050717.

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.

Maharaj A, Kwong R, Williams J, et al.

Endocrine connections 2022; (11(8)).

Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.

Ferrigno R, Cioffi D, Pellino V, et al.

Endocrine 2023; (80(1)):1-9 doi:10.1007/s12020-022-03236-z.

Trabecular bone score and sclerostin concentrations in patients with primary adrenal insufficiency.

Zdrojowy-Wełna A, Halupczok-Żyła J, Słoka N, et al.

Frontiers in endocrinology 2022; (13()):996157 doi:10.3389/fendo.2022.996157.

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.

Duan Y, Xia Y, Gong Z, et al.

Molecular syndromology 2023; (14(1)):71-79 doi:10.1159/000526320.

Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report.

Alghamdi AH

Children (Basel, Switzerland) 2023; (10(2)) doi:10.3390/children10020301.

Adrenal Failure: An Evidence-Based Diagnostic Approach.

Shaikh S, Nagendra L, Shaikh S, Pappachan JM

Diagnostics (Basel, Switzerland) 2023; (13(10)) doi:10.3390/diagnostics13101812.

A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Pons Fernández N, Moriano Gutiérrez A, Taberner Pazos B, et al.

Annales d'endocrinologie 2024; (85(1)):70-81 doi:10.1016/j.ando.2023.05.011.

On Primary Adrenal Insufficiency with Normal Concentrations of Cortisol - Early Manifestation of Addison's Disease.

Wäscher H, Knauerhase A, Klar B, et al.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2024; (56(1)):16-19 doi:10.1055/a-2180-7108.

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Maharaj AV

Frontiers in endocrinology 2023; (14()):1268345 doi:10.3389/fendo.2023.1268345.

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.

Kardas Yildiz A, Bulbul A, Ozer Bekmez B, et al.

Molecular syndromology 2024; (15(1)):77-82 doi:10.1159/000533986.

Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.

Kurt I, Eser M, Kahveci A, et al.

Clinical endocrinology 2024; (101(2)):108-113 doi:10.1111/cen.15080.

Familial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome.

Wei W, Shaibi GQ, Cooper-Hastings L, Newbern D

JCEM case reports 2025; (3(1)):luae224 doi:10.1210/jcemcr/luae224.

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.

Treatment and Follow-up of Non-stress Adrenal Insufficiency

Buğrul F, Özcan Murat N

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):93-101 doi:10.4274/jcrpe.galenos.2024.2024-6-23-S.

Familial Glucocorticoid Deficiency Type 4 Caused by a Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase (NNT) Gene: A Clinical Report of Two Siblings.

Alquraishi AS, Albishri A, Alasmari BG, et al.

Cureus 2025; (17(1)):e77046 doi:10.7759/cureus.77046.

Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.

Tresa A, Jahagirdar R, Deshpande R, Datar C

BMJ case reports 2025; (18(2)) doi:10.1136/bcr-2024-262013.

Antenatal diagnosis and early postnatal management of a neonate with type 1 familial glucocorticoid deficiency.

Chougula PV, Deshpande S, Datar C, Suryawanshi P

BMJ case reports 2025; (18(2)) doi:10.1136/bcr-2024-264598.

Adrenal Insufficiency: A Case Study.

Kan C

Advanced emergency nursing journal 2025; (47(3)):186-192 doi:10.1097/TME.0000000000000575.

Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5.

Wang X, Chen X, Chen T, et al.

Frontiers in pediatrics 2025; (13()):1585582 doi:10.3389/fped.2025.1585582.

Uniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.

Müller-Nedebock AC, Wenzel E, Pfäffle R

European journal of endocrinology 2025; (193(2)):K5-K10 doi:10.1093/ejendo/lvaf152.

Rare Causes of Pediatric Primary Adrenal Insufficiency: An Observational Cohort Study.

Schermesser-Sicard M, Samara-Boustani D, Roucher-Boulez F, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; doi:10.1016/j.eprac.2026.05.011.

Clinical features of hereditary adrenocortical unresponsiveness to adrenocorticotropin (HAUA) in Japan: from a nationwide questionnaire based survey.

Tanimoto E, Kashimada K, Matsuura B, et al.

Endocrine journal 2026; doi:10.1507/endocrj.EJ26-0099.