Research & Literature

Adrenal steroidogenesis and congenital adrenal hyperplasia.

Turcu AF, Auchus RJ

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

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.

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.

Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Rodrigues TM, Barra CB, Santos JL, et al.

Archives of endocrinology and metabolism 2015; (59(6)):541-7.

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Grošelj U, Žerjav Tanšek M, Trebušak Podkrajšek K, et al.

Acta chimica Slovenica 2016; (63(1)):33-7 doi:10.17344/acsi.2015.1797.

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.

Darkened skin, vomiting, and salt cravings in a teenager · Dx?

Lee T, Kapadia C

The Journal of family practice 2016; (65(6)):E1-3.

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.

Adrenal crises: perspectives and research directions.

Rushworth RL, Torpy DJ, Falhammar H

Endocrine 2017; (55(2)):336-345 doi:10.1007/s12020-016-1204-2.

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.

The Key to Adrenal Insufficiency Education: Repetition, Repetition, Repetition.

Keil MF, Van Ryzin C

Pediatric endocrinology reviews : PER 2017; (14(Suppl 2)):448-453 doi:10.17458/per.vol14.2017.kr.keyadrenalinsufficiency.

Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

Mooij CF, Pourier MS, Weijers G, et al.

Clinical endocrinology 2018; (88(3)):364-371 doi:10.1111/cen.13529.

Routine vaccinations as a precipitant of adrenal crisis in adrenal insufficiency.

Major A, Chacko K

Internal medicine journal 2018; (48(3)):360-361 doi:10.1111/imj.13720.

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.

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.

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.

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.

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.

Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes.

Zainuddin AA, Grover SR, Soon CH, et al.

Frontiers in pediatrics 2019; (7()):144 doi:10.3389/fped.2019.00144.

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity.

Chawla R, Weidler EM, Hernandez J, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(6)):643-646 doi:10.1515/jpem-2018-0567.

Update on adrenal steroid hormone biosynthesis and clinical implications.

Bacila IA, Elder C, Krone N

Archives of disease in childhood 2019; (104(12)):1223-1228 doi:10.1136/archdischild-2017-313873.

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.

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.

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.

Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.

Woodcock T, Barker P, Daniel S, et al.

Anaesthesia 2020; (75(5)):654-663 doi:10.1111/anae.14963.

Management of Infants with Congenital Adrenal Hyperplasia.

Dabas A, Vats P, Sharma R, et al.

Indian pediatrics 2020; (57(2)):159-164.

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.

Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)-Analysis of Unified Surgical Management.

Kudela G, Gawlik A, Koszutski T

International journal of environmental research and public health 2020; (17(11)) doi:10.3390/ijerph17113852.

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.

Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature.

Tresoldi AS, Betella N, Hasenmajer V, et al.

Journal of endocrinological investigation 2021; (44(3)):391-402 doi:10.1007/s40618-020-01362-x.

Adrenal crisis and death following transarterial chemoembolization of sarcoma liver metastases.

Afiat TP, Johns C, Smith J, et al.

Clinical imaging 2021; (69()):79-81 doi:10.1016/j.clinimag.2020.06.023.

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.

Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.

Ali SR, Bryce J, Haghpanahan H, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(1)):e192-e203 doi:10.1210/clinem/dgaa694.

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.

Towards an agency-based model of intersex, variations of sex characteristics (VSC) and DSD/dsd health.

Crocetti D, Monro S, Vecchietti V, Yeadon-Lee T

Culture, health & sexuality 2021; (23(4)):500-515 doi:10.1080/13691058.2020.1825815.

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Zetterström RH, Karlsson L, Falhammar H, et al.

International journal of neonatal screening 2020; (6(3)) doi:10.3390/ijns6030071.

Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.

Yauch L, Mayhew A, Gomez-Lobo V, et al.

Journal of the Endocrine Society 2021; (5(1)):bvaa169 doi:10.1210/jendso/bvaa169.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).

San Martín P, Eugenio Russmann ML, Mendeluk G, et al.

Endocrinologia, diabetes y nutricion 2021; (68(4)):227-235 doi:10.1016/j.endinu.2020.07.006.

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.

Lower Urinary Tract Symptoms in Adult Females after Feminizing Genitoplasty for Congenital Adrenal Hyperplasia.

Trachta J, Mushtaq I, Petrasova N, et al.

The Journal of urology 2021; (205(5)):1483-1489 doi:10.1097/JU.0000000000001509.

Perioperative glucocorticoid management based on current evidence.

Seo KH

Anesthesia and pain medicine 2021; (16(1)):8-15 doi:10.17085/apm.20089.

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.

Newborn Screening for CAH-Challenges and Opportunities.

Heather NL, Nordenstrom A

International journal of neonatal screening 2021; (7(1)) doi:10.3390/ijns7010011.

Complete corporeal preservation clitoroplasty: new insights into feminizing genitoplasty.

Fernandez N, Chavarriaga J, Pérez J

International braz j urol : official journal of the Brazilian Society of Urology 2021; (47(4)):861-867 doi:10.1590/S1677-5538.IBJU.2020.0839.

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al.

Endocrine reviews 2022; (43(1)):91-159 doi:10.1210/endrev/bnab016.

[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].

Van Vliet G, Grosse SD

Medecine sciences : M/S 2021; (37(5)):528-534 doi:10.1051/medsci/2021053.

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.

Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.

Hebenstreit D, Ahmed SF, Krone N, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021; (15(4)):229-235 doi:10.1159/000517055.

Surgical Therapy After Failed Feminizing Genitoplasty in Young Adults With Disorders of Sex Development: Retrospective Analysis and Review of the Literature.

Ellerkamp V, Rall KK, Schaefer J, et al.

The journal of sexual medicine 2021; (18(10)):1797-1806 doi:10.1016/j.jsxm.2021.07.008.

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.

A Broken Pathway: Understanding Congenital Adrenal Hyperplasia in the Newborn.

Allis K

Neonatal network : NN 2021; (40(5)):286-294 doi:10.1891/11-T-694.

Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history.

Yu L, Chen P, Zhu W, et al.

BMC pediatrics 2021; (21(1)):405 doi:10.1186/s12887-021-02883-x.

Acute Illness and Death in Children With Adrenal Insufficiency.

Worth C, Vyas A, Banerjee I, et al.

Frontiers in endocrinology 2021; (12()):757566 doi:10.3389/fendo.2021.757566.

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.

Prete A, Auchus RJ, Ross RJ

European journal of endocrinology 2021; (186(1)):R1-R14.

Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH.

Fisher RS, Espeleta HC, Baskin LS, et al.

Journal of pediatric urology 2022; (18(1)):27-33 doi:10.1016/j.jpurol.2021.10.001.

Surgical Outcomes of Clitoroplasty in Children with Congenital Adrenal Hyperplasia and Clitoral Hypertrophy: A 19-Year Experience of a Single Surgeon.

Jun J, Song SH, Park S, et al.

International journal of environmental research and public health 2021; (18(21)) doi:10.3390/ijerph182111152.

[Long-term morbidity in congenital adrenal hyperplasia].

Tschaidse L, Quitter F, Hübner A, Reisch N

Der Internist 2022; (63(1)):43-50 doi:10.1007/s00108-021-01223-6.

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Song SQ, Gropman A, Benjamin RW, et al.

Frontiers in genetics 2021; (12()):808006 doi:10.3389/fgene.2021.808006.

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.

Association of androgen excess and bone mineral density in women with classical congenital adrenal hyperplasia with 21-hydroxylase deficiency.

Lee DH, Kong SH, Jang HN, et al.

Archives of osteoporosis 2022; (17(1)):45 doi:10.1007/s11657-022-01090-0.

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.

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.

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.

Liu Y, Chen M, Liu J, et al.

Clinical chemistry 2022; (68(7)):927-939 doi:10.1093/clinchem/hvac046.

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.

Electrolyte abnormalities and stress dosing predict illness-related hospitalizations among infants and toddlers with congenital adrenal hyperplasia.

Tseng T, Seagroves A, Tanawattanacharoen VK, et al.

Clinical endocrinology 2023; (98(4)):536-542 doi:10.1111/cen.14876.

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.

Congenital adrenal hyperplasia: New biomarkers and adult treatments.

Dreves B, Reznik Y, Tabarin A

Annales d'endocrinologie 2023; (84(4)):472-480 doi:10.1016/j.ando.2023.01.008.

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.

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Saho R, Dolzan V, Zerjav Tansek M, et al.

Frontiers in endocrinology 2023; (14()):1134133 doi:10.3389/fendo.2023.1134133.

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Mushtaq T, Ali SR, Boulos N, et al.

Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.

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.

Disorders of Sex Development in Office Practice.

Priyadarshini S, Sharma R

Indian journal of pediatrics 2023; (90(10)):1030-1037 doi:10.1007/s12098-023-04640-7.

Clinical tools in the diagnosis of disorders of sex development: a switch from the hormonal to the genetics laboratory?

Rey RA

Advances in laboratory medicine 2021; (2(4)):463-467 doi:10.1515/almed-2021-0072.

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.

Granada ML, Audí L

Advances in laboratory medicine 2021; (2(4)):468-493 doi:10.1515/almed-2021-0042.

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.

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.

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.

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.

Congenital Adrenal Hyperplasia.

Fraga NR, Minaeian N, Kim MS

Pediatrics in review 2024; (45(2)):74-84 doi:10.1542/pir.2022-005617.

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.

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.

Martins JMES, Braga BL, Sampaio KNF, et al.

Archives of endocrinology and metabolism 2024; (68()):e220395.

Title not available

Thomsen HH

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

Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey.

Gardner M, Khorashad BS, Lee PA, et al.

Archives of sexual behavior 2024; (53(5)):1695-1711 doi:10.1007/s10508-024-02853-1.

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.

Auchus RJ, Hamidi O, Pivonello R, et al.

The New England journal of medicine 2024; (391(6)):504-514 doi:10.1056/NEJMoa2404656.

Genito-urinary Reconstruction in Female Children With Congenital Adrenal Hyperplasia: Favorable Surgical Outcomes can be Achieved by Contemporary Techniques and a Dedicated Multidisciplinary Management.

Ibrahim H, Lachkar AA, Bidault V, et al.

Journal of pediatric surgery 2024; (59(9)):1851-1858 doi:10.1016/j.jpedsurg.2024.05.009.

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.

Congenital Adrenal Hyperplasia in Children: The Relationship between Plasma Renin Activity and Hypertension.

Lubis SM, Soesanti F, Hidayati EL, Aap BT

Iranian journal of medical sciences 2024; (49(6)):377-383 doi:10.30476/ijms.2023.98508.3058.

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.

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.

Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.

Krysiak R, Claahsen-van der Grinten HL, Reisch N, et al.

Endocrine reviews 2025; (46(1)):80-148 doi:10.1210/endrev/bnae026.

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.

Fylaktou I, Mertzanian A, Farakla I, et al.

Current issues in molecular biology 2024; (46(10)):10696-10713 doi:10.3390/cimb46100635.

Experiences and psychological issues affecting parents of children born with atypical genitalia in India.

Bindal T, Sharma R, Jain V, Sagar R

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(12)):1077-1085 doi:10.1515/jpem-2024-0372.

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.

Women With Congenital Adrenal Hyperplasia Have Favorable Pregnancy Outcomes but Prolonged Time to Conceive.

Auer MK, Minea CE, Quinkler M, et al.

Journal of the Endocrine Society 2024; (9(1)):bvae211 doi:10.1210/jendso/bvae211.

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.

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

Tajima T

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2025; (34(1)):13-18 doi:10.1297/cpe.2024-0069.

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.

Long-term Outcomes of Feminizing Genitoplasty in DSD: Genital Morphology, Sensitivity, Sexual Function, and Satisfaction.

Bag MJ, Inacio M, Bachega TASS, et al.

Journal of the Endocrine Society 2025; (9(3)):bvaf014 doi:10.1210/jendso/bvaf014.

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Wang X, Lu X, Zheng F, et al.

International journal of neonatal screening 2025; (11(1)) doi:10.3390/ijns11010022.

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.

Crinecerfont: First Approval.

Lee A

Drugs 2025; (85(6)):839-843 doi:10.1007/s40265-025-02165-1.

Patient and caregiver experiences with hydrocortisone injections in adrenal crisis: a mixed-methods cross-sectional study.

Llahana S, Anthony J, Sarafoglou K, et al.

Frontiers in endocrinology 2025; (16()):1544502 doi:10.3389/fendo.2025.1544502.

The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases

Güran T, Yürüker E, Anık A, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(4)):488-493 doi:10.4274/jcrpe.galenos.2025.2024-9-11.

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.

Arterial stiffness and shortened QTc interval are associated with androgen and ACTH levels in classic congenital adrenal hyperplasia.

Campioni L, Di Carlo MC, Sola C, et al.

Frontiers in endocrinology 2025; (16()):1660114 doi:10.3389/fendo.2025.1660114.

High-Dose Hormone Replacement Therapy Improved Embryo Transfer Outcomes in a Woman With 21-Hydroxylase Deficiency Who Had Persistently High Serum Progesterone Levels: A Case Report and Literature Review.

Mizusawa Y, Shibahara H, Shiotani M

Clinical case reports 2025; (13(10)):e71271 doi:10.1002/ccr3.71271.

Perception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey.

Tschaidse L, Sappl A, Nowotny HF, et al.

Journal of endocrinological investigation 2026; (49(2)):387-398 doi:10.1007/s40618-025-02727-w.

Crinecerfont: CRF1R Antagonist Approved for Treatment of Congenital Adrenal Hyperplasia.

Yuan L

The Annals of pharmacotherapy 2026; (60(5)):512-520 doi:10.1177/10600280251396594.

Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD).

Claahsen-van der Grinten HL, van Herwaarden A, Kempers M, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1183-e1194 doi:10.1210/clinem/dgag023.