[1]
Tajima T. Health problems of adolescent and adult patients with 21-hydroxylase deficiency. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2018:27(4):203-213. doi: 10.1297/cpe.27.203. Epub 2018 Oct 30
[PubMed PMID: 30393437]
Level 3 (low-level) evidence
[2]
McCann-Crosby B, Placencia FX, Adeyemi-Fowode O, Dietrich J, Franciskovich R, Gunn S, Axelrad M, Tu D, Mann D, Karaviti L, Sutton VR. Challenges in Prenatal Treatment with Dexamethasone. Pediatric endocrinology reviews : PER. 2018 Sep:16(1):186-193. doi: 10.17458/per.vol16.2018.mcpa.dexamethasone. Epub
[PubMed PMID: 30371037]
[3]
Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S. Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia. Annals of pediatric endocrinology & metabolism. 2018 Sep:23(3):158-161. doi: 10.6065/apem.2018.23.3.158. Epub 2018 Sep 28
[PubMed PMID: 30286573]
[4]
Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. The New England journal of medicine. 2020 Sep 24:383(13):1248-1261. doi: 10.1056/NEJMra1909786. Epub
[PubMed PMID: 32966723]
[5]
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. The Journal of clinical endocrinology and metabolism. 2018 Nov 1:103(11):4043-4088. doi: 10.1210/jc.2018-01865. Epub
[PubMed PMID: 30272171]
Level 1 (high-level) evidence
[6]
Nour MA, Gill H, Mondal P, Inman M, Urmson K. Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada. International journal of pediatric endocrinology. 2018:2018():8. doi: 10.1186/s13633-018-0063-4. Epub 2018 Sep 10
[PubMed PMID: 30214458]
[7]
Dörr HG, Penger T, Albrecht A, Marx M, Völkl TMK. Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency. Journal of clinical research in pediatric endocrinology. 2019 Feb 20:11(1):41-45. doi: 10.4274/jcrpe.galenos.2018.2018.0149. Epub 2018 Sep 4
[PubMed PMID: 30178749]
[8]
Chen S, Wu L, Ma X, Guo L, Zhang J, Gao H, Zhang T. Current status and prospects of congenital adrenal hyperplasia: A bibliometric and visualization study. Medicine. 2024 Nov 8:103(45):e40297. doi: 10.1097/MD.0000000000040297. Epub
[PubMed PMID: 39533614]
[9]
ICMR Task Force on Inherited Metabolic Disorders. Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. Indian journal of pediatrics. 2018 Nov:85(11):935-940. doi: 10.1007/s12098-018-2645-9. Epub 2018 Mar 17
[PubMed PMID: 29549556]
[10]
Daae E, Feragen KB, Nermoen I, Falhammar H. Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review. Endocrine. 2018 Oct:62(1):3-13. doi: 10.1007/s12020-018-1723-0. Epub 2018 Aug 20
[PubMed PMID: 30128958]
Level 1 (high-level) evidence
[11]
Rama Chandran S, Loh LM. The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH). Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 2019 Jan:35(1):28-31. doi: 10.1080/09513590.2018.1490399. Epub 2018 Jul 25
[PubMed PMID: 30044156]
Level 2 (mid-level) evidence
[12]
Doleschall M, Török D, Mészáros K, Luczay A, Halász Z, Németh K, Szücs N, Kiss R, Tőke J, Sólyom J, Fekete G, Patócs A, Igaz P, Tóth M. [Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia]. Orvosi hetilap. 2018 Feb:159(7):269-277. doi: 10.1556/650.2018.30986. Epub
[PubMed PMID: 29429350]
[13]
Held PK, Bialk ER, Lasarev MR, Allen DB. 21-Deoxycortisol is a Key Screening Marker for 21-Hydroxylase Deficiency. The Journal of pediatrics. 2022 Mar:242():213-219.e1. doi: 10.1016/j.jpeds.2021.10.063. Epub 2021 Nov 13
[PubMed PMID: 34780778]
[14]
Schröder MAM, Neacşu M, Adriaansen BPH, Sweep FCGJ, Ahmed SF, Ali SR, Bachega TASS, Baronio F, Birkebæk NH, de Bruin C, Bonfig W, Bryce J, Clemente M, Cools M, Elsedfy H, Globa E, Guran T, Güven A, Amr NH, Janus D, Taube NL, Markosyan R, Miranda M, Poyrazoğlu Ş, Rees A, Salerno M, Stancampiano MR, Vieites A, de Vries L, Yavas Abali Z, Span PN, Claahsen-van der Grinten HL. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study. European journal of endocrinology. 2023 Oct 17:189(4):460-468. doi: 10.1093/ejendo/lvad143. Epub
[PubMed PMID: 37837609]
Level 2 (mid-level) evidence
[15]
Engels M, Span PN, van Herwaarden AE, Sweep FCGJ, Stikkelbroeck NMML, Claahsen-van der Grinten HL. Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment. Endocrine reviews. 2019 Aug 1:40(4):973-987. doi: 10.1210/er.2018-00258. Epub
[PubMed PMID: 30882882]
[16]
Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE. Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome. The Journal of clinical endocrinology and metabolism. 2023 Sep 18:108(10):2447-2469. doi: 10.1210/clinem/dgad463. Epub
[PubMed PMID: 37580314]
Level 1 (high-level) evidence
[17]
Yanase T, Tajima T, Katabami T, Iwasaki Y, Tanahashi Y, Sugawara A, Hasegawa T, Mune T, Oki Y, Nakagawa Y, Miyamura N, Shimizu C, Otsuki M, Nomura M, Akehi Y, Tanabe M, Kasayama S. Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion]. Endocrine journal. 2016 Sep 30:63(9):765-784
[PubMed PMID: 27350721]
Level 1 (high-level) evidence
[18]
Mass Screening Committee, Japanese Society for Pediatric Endocrinology, Japanese Society for Mass Screening, Ishii T, Anzo M, Adachi M, Onigata K, Kusuda S, Nagasaki K, Harada S, Horikawa R, Minagawa M, Minamitani K, Mizuno H, Yamakami Y, Fukushi M, Tajima T. Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2015 Jul:24(3):77-105. doi: 10.1297/cpe.24.77. Epub 2015 Jul 18
[PubMed PMID: 26594092]
Level 3 (low-level) evidence
[19]
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ. Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism. 2021 Apr 23:106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. Epub
[PubMed PMID: 33527139]
[20]
Nella AA, Mallappa A, Perritt AF, Gounden V, Kumar P, Sinaii N, Daley LA, Ling A, Liu CY, Soldin SJ, Merke DP. A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism. 2016 Dec:101(12):4690-4698
[PubMed PMID: 27680873]
[21]
El-Maouche D, Merke DP, Vogiatzi MG, Chang AY, Turcu AF, Joyal EG, Lin VH, Weintraub L, Plaunt MR, Mohideen P, Auchus RJ. A Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism. 2020 Aug 1:105(8):2771-8. doi: 10.1210/clinem/dgaa381. Epub
[PubMed PMID: 32589738]
Level 2 (mid-level) evidence
[22]
Prete A, Auchus RJ, Ross RJ. Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia. European journal of endocrinology. 2021 Nov 30:186(1):R1-R14. doi: 10.1530/EJE-21-0794. Epub 2021 Nov 30
[PubMed PMID: 34735372]
Level 3 (low-level) evidence
[23]
Auchus RJ, Buschur EO, Chang AY, Hammer GD, Ramm C, Madrigal D, Wang G, Gonzalez M, Xu XS, Smit JW, Jiao J, Yu MK. Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. The Journal of clinical endocrinology and metabolism. 2014 Aug:99(8):2763-70. doi: 10.1210/jc.2014-1258. Epub 2014 Apr 29
[PubMed PMID: 24780050]
[24]
Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB Jr, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH, CAHtalyst Adult Trial Investigators. Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia. The New England journal of medicine. 2024 Aug 8:391(6):504-514. doi: 10.1056/NEJMoa2404656. Epub 2024 Jun 1
[PubMed PMID: 38828955]
[25]
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL, CAHtalyst Pediatric Trial Investigators. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia. The New England journal of medicine. 2024 Aug 8:391(6):493-503. doi: 10.1056/NEJMoa2404655. Epub 2024 Jun 2
[PubMed PMID: 38828945]
[26]
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH. Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism. 2022 Feb 17:107(3):801-812. doi: 10.1210/clinem/dgab749. Epub
[PubMed PMID: 34653252]
[27]
Erginel B, Ozdemir B, Karadeniz M, Poyrazoglu S, Keskin E, Soysal FG. Long-term 10-year comparison of girls with congenital adrenal hyperplasia who underwent early and late feminizing genitoplasty. Pediatric surgery international. 2023 Jun 29:39(1):222. doi: 10.1007/s00383-023-05498-8. Epub 2023 Jun 29
[PubMed PMID: 37386261]
[28]
Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH. Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. The Journal of clinical endocrinology and metabolism. 2018 Nov 1:103(11):4089-4096. doi: 10.1210/jc.2018-01863. Epub
[PubMed PMID: 30272250]
Level 1 (high-level) evidence
[29]
Krege S, Falhammar H, Lax H, Roehle R, Claahsen-van der Grinten H, Kortmann B, Duranteau L, Nordenskjöld A, dsd-LIFE group. Long-Term Results of Surgical Treatment and Patient-Reported Outcomes in Congenital Adrenal Hyperplasia-A Multicenter European Registry Study. Journal of clinical medicine. 2022 Aug 8:11(15):. doi: 10.3390/jcm11154629. Epub 2022 Aug 8
[PubMed PMID: 35956243]
[30]
Falhammar H, Holmdahl G, Nyström HF, Nordenström A, Hagenfeldt K, Nordenskjöld A. Women's response regarding timing of genital surgery in congenital adrenal hyperplasia. Endocrine. 2024 Oct 18:():. doi: 10.1007/s12020-024-04080-z. Epub 2024 Oct 18
[PubMed PMID: 39422838]
[31]
Lee PA, Fuqua JS, Houk CP, Kogan BA, Mazur T, Caldamone A. Individualized care for patients with intersex (disorders/differences of sex development): part I. Journal of pediatric urology. 2020 Apr:16(2):230-237. doi: 10.1016/j.jpurol.2020.02.013. Epub 2020 Mar 4
[PubMed PMID: 32249189]
[32]
Pofi R, Ji X, Krone NP, Tomlinson JW. Long-term health consequences of congenital adrenal hyperplasia. Clinical endocrinology. 2024 Oct:101(4):318-331. doi: 10.1111/cen.14967. Epub 2023 Sep 7
[PubMed PMID: 37680029]
[33]
Bachelot A, Grouthier V, Courtillot C, Dulon J, Touraine P. MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. European journal of endocrinology. 2017 Apr:176(4):R167-R181. doi: 10.1530/EJE-16-0888. Epub 2017 Jan 23
[PubMed PMID: 28115464]
[34]
Khattab A, Yau M, Qamar A, Gangishetti P, Barhen A, Al-Malki S, Mistry H, Anthony W, Toralles MB, New MI. Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males. The Journal of steroid biochemistry and molecular biology. 2017 Jan:165(Pt A):12-17. doi: 10.1016/j.jsbmb.2016.03.033. Epub 2016 Apr 25
[PubMed PMID: 27125449]
[35]
King TF, Lee MC, Williamson EE, Conway GS. Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Clinical endocrinology. 2016 Jun:84(6):830-6. doi: 10.1111/cen.13001. Epub 2016 Feb 15
[PubMed PMID: 26666213]
[36]
Wiromrat P, Raruenrom Y, Namphaisan P, Wongsurawat N, Panamonta O, Pongchaiyakul C. Prednisolone impairs trabecular bone score changes in adolescents with 21-hydroxylase deficiency. Clinical and experimental pediatrics. 2024 Nov 13:():. doi: 10.3345/cep.2024.01060. Epub 2024 Nov 13
[PubMed PMID: 39533718]
[37]
Lind-Holst M, Hansen D, Main KM, Juul A, Andersen MS, Dunø M, Rasmussen ÅK, Jørgensen N, Gravholt CH, Berglund A. Delineating the psychiatric morbidity spectrum in congenital adrenal hyperplasia: a population-based registry study. The Journal of clinical endocrinology and metabolism. 2024 Nov 15:():. pii: dgae780. doi: 10.1210/clinem/dgae780. Epub 2024 Nov 15
[PubMed PMID: 39545512]
[38]
Rangaswamaiah S, Gangathimmaiah V, Nordenstrom A, Falhammar H. Bone Mineral Density in Adults With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. Frontiers in endocrinology. 2020:11():493. doi: 10.3389/fendo.2020.00493. Epub 2020 Jul 31
[PubMed PMID: 32903805]
Level 1 (high-level) evidence
[39]
Falhammar H, Frisén L, Hirschberg AL, Nordenskjöld A, Almqvist C, Nordenström A. Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study. The Journal of clinical endocrinology and metabolism. 2022 Jan 18:107(2):e475-e486. doi: 10.1210/clinem/dgab712. Epub
[PubMed PMID: 34601607]
[40]
Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, Speiser PW, Murad MH. Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. The Journal of clinical endocrinology and metabolism. 2018 Nov 1:103(11):4097-4103. doi: 10.1210/jc.2018-01862. Epub
[PubMed PMID: 30272185]
Level 1 (high-level) evidence
[41]
Kim JH, Choi S, Lee YA, Lee J, Kim SG. Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study. Endocrinology and metabolism (Seoul, Korea). 2022 Feb:37(1):138-147. doi: 10.3803/EnM.2021.1328. Epub 2022 Feb 28
[PubMed PMID: 35255606]