Research & Literature

Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.

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

American journal of hypertension 2016; (29(2)):266-72 doi:10.1093/ajh/hpv087.

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.

Falhammar H, Nordenström A

Endocrine 2015; (50(1)):32-50 doi:10.1007/s12020-015-0656-0.

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.

Ambroziak U, Kępczyńska-Nyk A, Kuryłowicz A, et al.

Clinical endocrinology 2016; (84(1)):23-9 doi:10.1111/cen.12935.

Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia.

Yu MK, Jung MK, Kim KE, et al.

Annals of pediatric endocrinology & metabolism 2015; (20(3)):155-61 doi:10.6065/apem.2015.20.3.155.

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.

Determination of a steroid profile in heel prick blood using LC-MS/MS.

Boelen A, Ruiter AF, Claahsen-van der Grinten HL, et al.

Bioanalysis 2016; (8(5)):375-84 doi:10.4155/bio.16.6.

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.

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.

Bretones P, Riche B, Pichot E, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(12)):1379-1388.

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.

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.

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.

Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels.

Anandi VS, Shaila B

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(6)):677-681.

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.

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.

Gurgov S, Bernabé KJ, Stites J, et al.

Annals of the New York Academy of Sciences 2017; (1402(1)):56-63 doi:10.1111/nyas.13370.

Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia.

Karlsson L, Gezelius A, Nordenström A, et al.

Clinical endocrinology 2017; (87(6)):651-659 doi:10.1111/cen.13441.

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.

Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.

Podgórski R, Aebisher D, Stompor M, et al.

Acta biochimica Polonica 2018; (65(1)):25-33 doi:10.18388/abp.2017_2343.

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.

Bone Mineral Content and Density in Indian Children with Congenital Adrenal Hyperplasia.

Ganesh R, Suresh N, Janakiraman L

Indian pediatrics 2018; (55(10)):880-882.

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals.

Chrisp GL, Maguire AM, Quartararo M, et al.

Clinical endocrinology 2018; (89(5)):577-585 doi:10.1111/cen.13826.

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Speiser PW, Arlt W, Auchus RJ, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(11)):4043-4088 doi:10.1210/jc.2018-01865.

Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.

Nasir H, Ali SI, Haque N, et al.

Annals of pediatric endocrinology & metabolism 2018; (23(3)):158-161 doi:10.6065/apem.2018.23.3.158.

Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency.

Dahl SR, Nermoen I, Brønstad I, et al.

Endocrine connections 2018; (7(12)):1542-1550.

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.

Riedl S, Röhl FW, Bonfig W, et al.

Endocrine connections 2019; (8(2)):86-94.

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.

[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].

Xia Y, Mei S, Hu S, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(2)):103-107 doi:10.3760/cma.j.issn.1003-9406.2019.02.002.

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.

Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.

Pode-Shakked N, Blau A, Pode-Shakked B, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(8)):3172-3180 doi:10.1210/jc.2018-02468.

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.

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.

Santos-Silva R, Cardoso R, Lopes L, et al.

Hormone research in paediatrics 2019; (91(1)):33-45 doi:10.1159/000497485.

Emergency treatment of adrenal crisis with prednisone suppositories: a bioequivalence study in female patients with Addison's disease.

Burger-Stritt S, Bachmann L, Kurlbaum M, Hahner S

Endocrine connections 2019; (8(4)):425-434.

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.

Daily adjustment of glucocorticoids by patients with adrenal insufficiency.

Schöfl C, Mayr B, Maison N, et al.

Clinical endocrinology 2019; (91(2)):256-262 doi:10.1111/cen.14004.

Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review.

Papadakis G, Kandaraki EA, Tseniklidi E, et al.

Frontiers in endocrinology 2019; (10()):388 doi:10.3389/fendo.2019.00388.

Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.

Concolino P

Molecular diagnosis & therapy 2019; (23(5)):563-567 doi:10.1007/s40291-019-00415-z.

Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.

Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, et al.

The journal of sexual medicine 2019; (16(10)):1529-1540 doi:10.1016/j.jsxm.2019.07.009.

Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency.

Kamenický P, Blanchard A, Lamaziere A, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(1)) doi:10.1210/clinem/dgz005.

Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia.

Krysiak R, Kowalcze K, Marek B, Okopień B

Acta cardiologica 2020; (75(8)):705-710 doi:10.1080/00015385.2019.1666964.

Congenital Adrenal Hyperplasia.

Török D

Experientia supplementum (2012) 2019; (111()):245-260 doi:10.1007/978-3-030-25905-1_12.

Alternative pathway androgen biosynthesis and human fetal female virilization.

Reisch N, Taylor AE, Nogueira EF, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(44)):22294-22299 doi:10.1073/pnas.1906623116.

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study.

Riehl G, Reisch N, Roehle R, et al.

Clinical endocrinology 2020; (92(4)):284-294 doi:10.1111/cen.14149.

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.

Vats P, Dabas A, Jain V, et al.

Indian pediatrics 2020; (57(1)):49-55.

Prevention of Adrenal Crisis: Cortisol Responses to Major Stress Compared to Stress Dose Hydrocortisone Delivery.

Prete A, Taylor AE, Bancos I, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(7)) doi:10.1210/clinem/dgaa133.

11-Oxygenated androgens in health and disease.

Turcu AF, Rege J, Auchus RJ, Rainey WE

Nature reviews. Endocrinology 2020; (16(5)):284-296 doi:10.1038/s41574-020-0336-x.

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Fernández CS, Taboas M, Bruque CD, et al.

Clinical endocrinology 2020; (93(1)):19-27 doi:10.1111/cen.14190.

The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency.

Chrisp GL, Torpy DJ, Maguire AM, et al.

Clinical endocrinology 2020; (93(2)):97-103 doi:10.1111/cen.14196.

An integrated PK-PD model for cortisol and the 17-hydroxyprogesterone and androstenedione biomarkers in children with congenital adrenal hyperplasia.

Al-Kofahi M, Ahmed MA, Jaber MM, et al.

British journal of clinical pharmacology 2021; (87(3)):1098-1110 doi:10.1111/bcp.14470.

Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points.

Eshragh N, Doan LV, Connelly KJ, et al.

Hormone research in paediatrics 2020; (93(2)):128-136 doi:10.1159/000508075.

Guidance for the prevention and emergency management of adult patients with adrenal insufficiency.

Simpson H, Tomlinson J, Wass J, et al.

Clinical medicine (London, England) 2020; (20(4)):371-378 doi:10.7861/clinmed.2019-0324.

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.

Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme.

Lai F, Srinivasan S, Wiley V

International journal of neonatal screening 2020; (6(3)):63 doi:10.3390/ijns6030063.

Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.

Ilany J, Liu J, Welsch C, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(2)):e680-e686 doi:10.1210/clinem/dgaa875.

11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency.

Jha S, Turcu AF, Sinaii N, et al.

Journal of the Endocrine Society 2021; (5(2)):bvaa192 doi:10.1210/jendso/bvaa192.

Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.

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

Clinical endocrinology 2021; (94(6)):904-912 doi:10.1111/cen.14422.

Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?

Jha S, Turcu AF

Endocrinology and metabolism clinics of North America 2021; (50(1)):151-165 doi:10.1016/j.ecl.2020.10.008.

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.

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.

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry.

Hoyer-Kuhn H, Huebner A, Richter-Unruh A, et al.

Endocrine connections 2021; (10(5)):561-569.

Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.

Ilany J, Cohen O

Trends in endocrinology and metabolism: TEM 2021; (32(7)):423-432 doi:10.1016/j.tem.2021.04.007.

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.

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.

Stroek K, Ruiter A, van der Linde A, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(11)):e4487-e4496 doi:10.1210/clinem/dgab464.

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.

Hyperinsulinemic-Euglycemic Clamp Strengthens the Insulin Resistance in Nonclassical Congenital Adrenal Hyperplasia.

Delai A, Gomes PM, Foss-Freitas MC, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):e1106-e1116 doi:10.1210/clinem/dgab767.

Non-PCOS Hyperandrogenic Disorders in Adolescents.

Esquivel-Zuniga MR, Kirschner CK, McCartney CR, Burt Solorzano CM

Seminars in reproductive medicine 2022; (40(1-02)):42-52 doi:10.1055/s-0041-1742259.

Diurnal salivary androstenedione and 17-hydroxyprogesterone levels in healthy volunteers for monitoring treatment efficacy of patients with congenital adrenal hyperplasia.

Adriaansen BPH, Kamphuis JS, Schröder MAM, et al.

Clinical endocrinology 2022; (97(1)):36-42 doi:10.1111/cen.14690.

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.

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.

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.

Arriba M, Ezquieta B

Frontiers in endocrinology 2022; (13()):834549 doi:10.3389/fendo.2022.834549.

The uncommon forms of congenital adrenal hyperplasia.

Auchus RJ

Current opinion in endocrinology, diabetes, and obesity 2022; (29(3)):263-270 doi:10.1097/MED.0000000000000727.

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.

Adrenal crisis during pregnancy: Case report and obstetric perspective.

Gardella B, Gritti A, Scatigno AL, et al.

Frontiers in medicine 2022; (9()):891101 doi:10.3389/fmed.2022.891101.

CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS.

Almacan B, Ozdemir N, Onay H, Hekimsoy Z

Acta endocrinologica (Bucharest, Romania : 2005) 2022; (18(2)):228-231 doi:10.4183/aeb.2022.228.

Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study.

Ben Simon A, Brener A, Segev-Becker A, et al.

Frontiers in endocrinology 2022; (13()):1022752 doi:10.3389/fendo.2022.1022752.

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.

Congenital adrenal hyperplasia.

Auer MK, Nordenström A, Lajic S, Reisch N

Lancet (London, England) 2023; (401(10372)):227-244 doi:10.1016/S0140-6736(22)01330-7.

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.

Adriaansen BPH, Schröder MAM, Span PN, et al.

Frontiers in endocrinology 2022; (13()):1064024 doi:10.3389/fendo.2022.1064024.

Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays.

Nakhleh A, Saiegh L, Shehadeh N, et al.

Frontiers in endocrinology 2022; (13()):1048663 doi:10.3389/fendo.2022.1048663.

[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.

Audit of management of children and adolescents with congenital adrenal hyperplasia as per recent Endocrine Society guidelines.

S L, Krishna Prasad H, Ramjee B, et al.

Pediatric endocrinology, diabetes, and metabolism 2023; (29(1)):10-15 doi:10.5114/pedm.2022.122547.

Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention.

Bizzarri C, Capalbo D, Wasniewska MG, et al.

Frontiers in endocrinology 2023; (14()):1133376 doi:10.3389/fendo.2023.1133376.

Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia.

Liu SC, Suresh M, Jaber M, et al.

Frontiers in endocrinology 2023; (14()):1101843 doi:10.3389/fendo.2023.1101843.

Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess.

Ng JL, Lim EM, Zhang R, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(12)):e1560-e1570 doi:10.1210/clinem/dgad377.

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Concolino P, Perrucci A, Carrozza C, Urbani A

Molecular diagnosis & therapy 2023; (27(5)):621-630 doi:10.1007/s40291-023-00666-x.

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.

Zhang X, Gao Y, Lu L, et al.

Journal of endocrinological investigation 2024; (47(4)):833-841 doi:10.1007/s40618-023-02197-y.

Restoration of reproductive capacity in a male patient with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors (TARTs) after six months of glucocorticoid intensification: A case report.

Ahmad J, Ahmad A, Hadid L

Medicine 2023; (102(49)):e36061 doi:10.1097/MD.0000000000036061.

Genetics of 21-hydroxylase deficiency: Clinical presentation should guide the investigation.

Ilany J

American journal of medical genetics. Part A 2024; (194(4)):e63513 doi:10.1002/ajmg.a.63513.

Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia.

Al-Rayess H, Lahoti A, Simpson LL, et al.

Children (Basel, Switzerland) 2023; (10(12)) doi:10.3390/children10121871.

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia.

Kumar KCP, Banik S, Joy P, Sahoo S

International journal of applied & basic medical research 2024; (14(2)):134-137 doi:10.4103/ijabmr.ijabmr_473_23.

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.

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.

Wang R, Luo X, Sun Y, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(2)):406-416 doi:10.1210/clinem/dgae519.

Anastrozole Improves Height Outcomes in Growing Children With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Al-Rayess H, Wiersma R, Turner LE, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(7)):e2198-e2207 doi:10.1210/clinem/dgae771.

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD.

Lan T, Wang J, Chen K, et al.

Frontiers in genetics 2024; (15()):1472516 doi:10.3389/fgene.2024.1472516.

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.

PERSPECTIVE: Treatment with hydrocortisone modified-release capsules in children and adolescents with congenital adrenal hyperplasia: an expert opinion.

Neumann U, Blankenstein O, Claahsen-van der Grinten HL

Endocrine connections 2025; (14(5)).

Adrenal Insufficiency in Adults: A Review.

Vaidya A, Findling J, Bancos I

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

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.

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients.

Huang Y, Jiang H, Zhu X, et al.

Journal of ovarian research 2025; (18(1)):252 doi:10.1186/s13048-025-01824-x.

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Lildballe DL, Huno MR, Ridder LOR, et al.

European journal of human genetics : EJHG 2026; (34(4)):535-542 doi:10.1038/s41431-026-02019-8.