Research & Literature

Adrenal steroidogenesis and congenital adrenal hyperplasia.

Turcu AF, Auchus RJ

Endocrinology and metabolism clinics of North America 2015; (44(2)):275-96.

Diffusion MRI features of acute encephalopathy due to stopping steroid medication abruptly in congenital adrenal hyperplasia.

Serter A, Alkan A, Demirkol D

Annals of Indian Academy of Neurology 2015; (18(3)):342-4 doi:10.4103/0972-2327.152086.

Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

King TF, Lee MC, Williamson EE, Conway GS

Clinical endocrinology 2016; (84(6)):830-6 doi:10.1111/cen.13001.

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.

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Choi JH, Kim GH, Yoo HW

Annals of pediatric endocrinology & metabolism 2016; (21(1)):1-6 doi:10.6065/apem.2016.21.1.1.

Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.

Parsa AA, New MI

The Journal of steroid biochemistry and molecular biology 2017; (165(Pt A)):2-11 doi:10.1016/j.jsbmb.2016.06.015.

SOCIETY FOR ENDOCRINOLOGY ENDOCRINE EMERGENCY GUIDANCE: Emergency management of acute adrenal insufficiency (adrenal crisis) in adult patients.

Arlt W,

Endocrine connections 2016; (5(5)):G1-G3 doi:10.1530/EC-16-0054.

Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

Hayashi GY, Carvalho DF, de Miranda MC, et al.

Clinical endocrinology 2017; (86(4)):480-487 doi:10.1111/cen.13292.

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

Rodríguez A, Ezquieta B, Labarta JI, et al.

Anales de pediatria (Barcelona, Spain : 2003) 2017; (87(2)):116.e1-116.e10 doi:10.1016/j.anpedi.2016.12.002.

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.

Choi JH, Yoo HW

Korean journal of pediatrics 2017; (60(2)):31-37 doi:10.3345/kjp.2017.60.2.31.

Congenital adrenal hyperplasia.

El-Maouche D, Arlt W, Merke DP

Lancet (London, England) 2017; (390(10108)):2194-2210 doi:10.1016/S0140-6736(17)31431-9.

Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.

Bonfig W, Roehl F, Riedl S, et al.

Hormone research in paediatrics 2018; (89(1)):7-12 doi:10.1159/000481775.

Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia.

El-Maouche D, Hargreaves CJ, Sinaii N, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(6)):2336-2345 doi:10.1210/jc.2018-00208.

Prednisolone is associated with a worse bone mineral density in primary adrenal insufficiency.

Frey KR, Kienitz T, Schulz J, et al.

Endocrine connections 2018; (7(6)):811-818 doi:10.1530/EC-18-0160.

MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.

Miller WL

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

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.

Dörr HG, Wollmann HA, Hauffa BP, et al.

BMC endocrine disorders 2018; (18(1)):37 doi:10.1186/s12902-018-0263-1.

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.

Classic congenital adrenal hyperplasia and its impact on reproduction.

Gomes LG, Bachega TASS, Mendonca BB

Fertility and sterility 2019; (111(1)):7-12 doi:10.1016/j.fertnstert.2018.11.037.

Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study.

Canlas JF, Ponmani C

BMJ case reports 2019; (12(1)) doi:10.1136/bcr-2018-227565.

Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

Reisch N

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2019; (127(2-03)):171-177 doi:10.1055/a-0820-2085.

Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment.

Engels M, Span PN, van Herwaarden AE, et al.

Endocrine reviews 2019; (40(4)):973-987 doi:10.1210/er.2018-00258.

Neuropsychiatric Manifestation of Addison's Disease: A Rare Case Report.

Munawar M, Iftikhar PM, Hasan CA, et al.

Cureus 2019; (11(4)):e4356 doi:10.7759/cureus.4356.

Adrenal crisis: prevention and management in adult patients.

Dineen R, Thompson CJ, Sherlock M

Therapeutic advances in endocrinology and metabolism 2019; (10()):2042018819848218 doi:10.1177/2042018819848218.

Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency.

Bacila I, Adaway J, Hawley J, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(12)):6417-6429 doi:10.1210/jc.2019-00031.

Congenital Adrenal Hyperplasia Presenting as Pulseless Ventricular Tachycardia in a Neonate.

Manzoor N, Minhaj A, Akmal M

Cureus 2019; (11(5)):e4749 doi:10.7759/cureus.4749.

Testicular adrenal rest tumor in the background of congenital adrenal hyperplasia

Brzózka Á, Kuthi L, Hajdú E, et al.

Orvosi hetilap 2020; (161(16)):623-631 doi:10.1556/650.2020.31696.

Manipulation of Hydrocortisone Tablets Leads to Iatrogenic Cushing Syndrome in a 6-Year-Old Girl With CAH.

Al-Rayess H, Fleissner K, Jaber M, et al.

Journal of the Endocrine Society 2020; (4(8)):bvaa091 doi:10.1210/jendso/bvaa091.

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

Cohen M, Pignatti E, Dines M, et al.

International journal of molecular sciences 2020; (21(16)) doi:10.3390/ijms21165857.

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.

Liu Y, Zheng J, Liu N, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1501 doi:10.1002/mgg3.1501.

The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients.

Gau M, Konishi K, Takasawa K, et al.

Clinical endocrinology 2021; (94(2)):229-236 doi:10.1111/cen.14347.

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.

de Hora MR, Heather NL, Patel T, et al.

International journal of neonatal screening 2020; (6(1)):6.

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.

Assessment of medication adherence in children and adults with congenital adrenal hyperplasia and the impact of knowledge and self-management.

Ekbom K, Strandqvist A, Lajic S, et al.

Clinical endocrinology 2021; (94(5)):753-764 doi:10.1111/cen.14398.

A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.

Shimakawa U, Shigehara K, Kawabe Y, et al.

Cureus 2020; (12(11)):e11763 doi:10.7759/cureus.11763.

Adrenal insufficiency.

Husebye ES, Pearce SH, Krone NP, Kämpe O

Lancet (London, England) 2021; (397(10274)):613-629 doi:10.1016/S0140-6736(21)00136-7.

Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement.

Rohayem J, Bäumer LM, Zitzmann M, et al.

European journal of endocrinology 2021; (184(4)):487-501.

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.

Wang X, Wang Y, Ma D, et al.

Frontiers in genetics 2020; (11()):623125 doi:10.3389/fgene.2020.623125.

Adrenal insufficiency.

Hahner S, Ross RJ, Arlt W, et al.

Nature reviews. Disease primers 2021; (7(1)):19 doi:10.1038/s41572-021-00252-7.

Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

Concolino P, Paragliola RM

Molecular diagnosis & therapy 2021; (25(3)):327-337 doi:10.1007/s40291-021-00520-y.

Birth Weight- or Gestational Age-adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand.

de Hora MR, Heather NL, Webster D, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(9)):e3390-e3399 doi:10.1210/clinem/dgab383.

The presentation of congenital adrenal hyperplasia in an unscreened population.

Conlon TA, Hawkes CP, Brady JJ, Murphy NP

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(9)):1123-1129 doi:10.1515/jpem-2021-0123.

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.

Testicular adrenal rest tumors in children with congenital adrenal hyperplasia.

Al-Ghamdi WM, Shazly MA, Al-Agha AE

Saudi medical journal 2021; (42(9)):986-993 doi:10.15537/smj.2021.42.9.20210257.

Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia.

Huneif MA, Al Mutairi M, AlHazmy ZH, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(1)):49-54 doi:10.1515/jpem-2021-0291.

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study.

Kim JH, Choi S, Lee YA, et al.

Endocrinology and metabolism (Seoul, Korea) 2022; (37(1)):138-147 doi:10.3803/EnM.2021.1328.

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.

Neumann U, van der Linde A, Krone RE, et al.

European journal of endocrinology 2022; (186(5)):587-596 doi:10.1530/EJE-21-1085.

Management challenges and therapeutic advances in congenital adrenal hyperplasia.

Mallappa A, Merke DP

Nature reviews. Endocrinology 2022; (18(6)):337-352 doi:10.1038/s41574-022-00655-w.

Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China.

Zhan X, Han L, Qiu W, et al.

Steroids 2022; (185()):109056 doi:10.1016/j.steroids.2022.109056.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Lawrence N, Bacila I, Dawson J, et al.

Clinical endocrinology 2022; (97(5)):551-561 doi:10.1111/cen.14796.

Testicular Adrenal Rest Tumors in a Patient With Congenital Adrenal Hyperplasia.

Yu SY, Freed KM

Cureus 2022; (14(8)):e28350 doi:10.7759/cureus.28350.

Syrian females with congenital adrenal hyperplasia: a case series.

Dehneh N, Jarjour R, Idelbi S, et al.

Journal of medical case reports 2022; (16(1)):371 doi:10.1186/s13256-022-03609-y.

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.

Maher JY, Gomez-Lobo V, Merke DP

Reviews in endocrine & metabolic disorders 2023; (24(1)):71-83 doi:10.1007/s11154-022-09770-5.

[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.

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report.

Chapagain N, Adhikari A, Adhikari N, et al.

JNMA; journal of the Nepal Medical Association 2023; (61(257)):84-86 doi:10.31729/jnma.7926.

Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan.

Zwayne N, Chawla R, van Leeuwen K

Obstetrics and gynecology 2023; (142(2)):257-268 doi:10.1097/AOG.0000000000005263.

Mineralocorticoid replacement therapy in salt-wasting congenital adrenal hyperplasia.

Lang K, Quinkler M, Kienitz T

Clinical endocrinology 2024; (101(4)):346-358 doi:10.1111/cen.14959.

Effect of complete suppression of androstenedione on auxological development in prepubertal patients with classical congenital adrenal hyperplasia.

Debor B, Bechtold-Dalla Pozza S, Reisch N, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(10)):930-940 doi:10.1515/jpem-2023-0169.

Developing oral chronotherapy for cortisol replacement in congenital adrenal hyperplasia.

Whitaker MJ, Debono M, Ross RJ

Clinical endocrinology 2024; (101(4)):311-317 doi:10.1111/cen.14976.

Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature.

Yu J, Lu S, Fang L, et al.

European journal of obstetrics, gynecology, and reproductive biology 2024; (293()):50-56 doi:10.1016/j.ejogrb.2023.12.008.

Transition from Paediatric to Adult Care in CAH: 20 Years of Experience at a Tertiary Referral Center.

Kiewert C, Jedanowski J, Hauffa BP, et al.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2024; (56(1)):45-50 doi:10.1055/a-2201-6548.

Diagnosis and management of secondary adrenal crisis.

Martel-Duguech L, Poirier J, Bourdeau I, Lacroix A

Reviews in endocrine & metabolic disorders 2024; (25(3)):619-637 doi:10.1007/s11154-024-09877-x.

Title not available

Thomsen HH

Ugeskrift for laeger 2024; (186(11)) doi:10.61409/V12230794.

Adult endocrinologists' perspectives on transitioning adolescent patients with congenital adrenal hyperplasia.

Hall ME, Kremen J, Boskey ER, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(8)):722-729 doi:10.1515/jpem-2024-0158.

A Novel Steroidogenic Acute Regulatory Protein (StAR) Mutation Causing Adrenal Insufficiency in a Neonate: A Case Report of a Rare Medical Condition.

Rawat A, Karotkar S, Lakra M, et al.

Cureus 2024; (16(8)):e66080 doi:10.7759/cureus.66080.

Prednisolone impairs trabecular bone score changes in adolescents with 21-hydroxylase deficiency.

Wiromrat P, Raruenrom Y, Namphaisan P, et al.

Clinical and experimental pediatrics 2025; (68(3)):238-246 doi:10.3345/cep.2024.01060.

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.

Woźniak B, Leszczyńska D, Szatko A, et al.

Frontiers in endocrinology 2024; (15()):1499836 doi:10.3389/fendo.2024.1499836.

Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence

Peltek Kendirci HN, Ünal E, Dündar İ, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):12-22 doi:10.4274/jcrpe.galenos.2024.2024-6-26-S.

Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns

Yavaş Abalı Z, Kurnaz E, Güran T

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):33-43 doi:10.4274/jcrpe.galenos.2024.2024-6-10-S.

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.

Periaortic fat thickness and cardiovascular risk factors in children with congenital adrenal hyperplasia.

Akyürek N, Eklioğlu BS, Atabek ME, et al.

Cardiology in the young 2025; (35(1)):170-174 doi:10.1017/S1047951124036576.

Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Nokoff NJ, Buchanan C, Barker JM

The Journal of clinical endocrinology and metabolism 2025; (110(Supplement_1)):S13-S24 doi:10.1210/clinem/dgae563.

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review.

Bapir R, Aghaways I, Ahmed SF, et al.

Urology case reports 2025; (60()):103028 doi:10.1016/j.eucr.2025.103028.

Adrenal Insufficiency in Adults: A Review.

Vaidya A, Findling J, Bancos I

JAMA 2025; (334(8)):714-725 doi:10.1001/jama.2025.5485.

A Neonate Presenting with Severe Dehydration: A Rare Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.

Lamichhane A, Phuyel R, Upreti M, Khadka R

JNMA; journal of the Nepal Medical Association 2024; (62(278)):706-708 doi:10.31729/jnma.8777.

Elective Reconstruction for Children With Congenital Adrenal Hyperplasia: Evaluating Association of Familial Characteristics.

Heller K, Madura G, Nawara N, et al.

The Journal of surgical research 2025; (313()):291-296 doi:10.1016/j.jss.2025.06.029.

Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.

Loli P, Menotti S, di Filippo L, Giustina A

Endocrine 2025; (90(1)):1-16 doi:10.1007/s12020-025-04341-5.

Unusual Dosing of Long-Acting Hydrocortisone in a Rapid Hydrocortisone Metabolizer With Addison's Disease: A Case Report.

Sungar NR, Srinivasan B

Cureus 2025; (17(8)):e90553 doi:10.7759/cureus.90553.

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.

Lee JH, Lee K, Jun SH, et al.

Journal of mass spectrometry and advances in the clinical lab 2025; (38()):10-17 doi:10.1016/j.jmsacl.2025.10.003.

Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.

Lawrence SE, Marcadier J, Auger S, et al.

Journal of the Endocrine Society 2026; (10(1)):bvaf157 doi:10.1210/jendso/bvaf157.