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.

Hormonal circadian rhythms in patients with congenital adrenal hyperplasia: identifying optimal monitoring times and novel disease biomarkers.

Debono M, Mallappa A, Gounden V, et al.

European journal of endocrinology 2015; (173(6)):727-37 doi:10.1530/EJE-15-0064.

Timing and Outcome Concerns regarding Feminizing Genitoplasty from the Perspective of Egyptian Families of Girls with Virilized External Genitalia.

Marei MM, Fares AE, Musa N, et al.

Hormone research in paediatrics 2016; (85(1)):49-57 doi:10.1159/000442200.

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.

The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.

Engberg H, Möller A, Hagenfeldt K, et al.

Clinical endocrinology 2016; (85(1)):21-8 doi:10.1111/cen.13054.

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.

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion].

Yanase T, Tajima T, Katabami T, et al.

Endocrine journal 2016; (63(9)):765-784 doi:10.1507/endocrj.EJ16-0242.

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.

Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.

Kim MS, Goodarzian F, Keenan MF, et al.

The Journal of urology 2017; (197(3 Pt 2)):931-936 doi:10.1016/j.juro.2016.09.072.

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.

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.

Quality of compounded hydrocortisone capsules used in the treatment of children.

Neumann U, Burau D, Spielmann S, et al.

European journal of endocrinology 2017; (177(2)):239-242.

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.

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.

How the Child's Gender Matters for Families Having a Child With Congenital Adrenal Hyperplasia.

Fleming L, Knafl K, Van Riper M

Journal of family nursing 2017; (23(4)):516-533 doi:10.1177/1074840717735499.

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.

Ishii T, Adachi M, Takasawa K, et al.

Hormone research in paediatrics 2018; (89(3)):166-171 doi:10.1159/000486393.

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.

Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.

Sellick J, Aldridge S, Thomas M, Cheetham T

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(9)):1019-1022 doi:10.1515/jpem-2018-0260.

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.

Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction.

New MI, Rosenwaks Z

Fertility and sterility 2019; (111(1)):4-6 doi:10.1016/j.fertnstert.2018.11.031.

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.

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.

van der Linde AAA, Schönbeck Y, van der Kamp HJ, et al.

Archives of disease in childhood 2019; (104(7)):653-657 doi:10.1136/archdischild-2018-315972.

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.

Height Velocity Defined Metabolic Control in Children With Congenital Adrenal Hyperplasia Using Urinary Steroid GC-MS Analysis.

Kamrath C, Wettstaedt L, Hartmann MF, Wudy SA

The Journal of clinical endocrinology and metabolism 2019; (104(9)):4214-4224 doi:10.1210/jc.2019-00438.

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.

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.

Kocova M, Anastasovska V, Bitovska I

European journal of medical research 2019; (24(1)):21 doi:10.1186/s40001-019-0379-4.

Quantitative targeted GC-MS-based urinary steroid metabolome analysis for treatment monitoring of adolescents and young adults with autoimmune primary adrenal insufficiency.

Kamrath C, Hartmann MF, Wudy SA

Steroids 2019; (150()):108426 doi:10.1016/j.steroids.2019.108426.

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.

Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.

Arteaga E, Valenzuela F, Lagos CF, et al.

Endocrine 2020; (67(1)):258-263 doi:10.1007/s12020-019-02097-3.

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.

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.

Ng SM, Stepien KM, Krishan A

The Cochrane database of systematic reviews 2020; (3()):CD012517 doi:10.1002/14651858.CD012517.pub2.

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.

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.

A Prospective Study of Children Aged 0-8 Years with CAH and Adrenal Insufficiency Treated with Hydrocortisone Granules.

Neumann U, Braune K, Whitaker MJ, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(3)):e1433-e1440 doi:10.1210/clinem/dgaa626.

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.

Pregnancy, delivery and neonatal outcomes among women with congenital adrenal hyperplasia: a study of a large US database.

Badeghiesh A, Ismail S, Baghlaf H, et al.

Reproductive biomedicine online 2020; (41(6)):1093-1099 doi:10.1016/j.rbmo.2020.08.036.

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.

Corticotropic insufficiency in a monocentric prospective cohort of patients with lung cancer treated with nivolumab: Prevalence and etiology.

Ducloux R, Tavernier JY, Wojewoda P, et al.

Annales d'endocrinologie 2021; (82(1)):8-14 doi:10.1016/j.ando.2020.11.010.

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.

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.

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.

Newborn Screening for CAH-Challenges and Opportunities.

Heather NL, Nordenstrom A

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

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.

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.

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.

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

Ahmed SF, Achermann J, Alderson J, et al.

Clinical endocrinology 2021; (95(6)):818-840 doi:10.1111/cen.14528.

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.

Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood.

Onuma S, Fukuoka T, Miyoshi Y, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2021; (30(3)):143-148 doi:10.1297/cpe.30.143.

Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India.

Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N

Indian journal of endocrinology and metabolism 2021; (25(1)):48-53 doi:10.4103/ijem.IJEM_520_20.

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.

A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?

Besci Ö, Erbaş İM, Küme T, et al.

Journal of clinical research in pediatric endocrinology 2022; (14(2)):145-152 doi:10.4274/jcrpe.galenos.2021.2021-9-17.

The utility of annual growth velocity standard deviation scores and measurements of biochemical parameters in long-term treatment monitoring of children with 21-hydroxylase deficiency.

Ozdemir Dilek S, Turan I, Gurbuz F, et al.

Hormones (Athens, Greece) 2022; (21(3)):391-397 doi:10.1007/s42000-022-00354-1.

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.

Classic and current concepts in adrenal steroidogenesis: a reappraisal.

Kater CE, Giorgi RB, Costa-Barbosa FA

Archives of endocrinology and metabolism 2022; (66(1)):77-87.

Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.

Cavarzere P, Camilot M, Palma L, et al.

Hormone research in paediatrics 2022; (95(3)):255-263 doi:10.1159/000524170.

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.

How to manage puberty and prevent fertility disorders in men with CAH?

Claahsen-van der Grinten HL

Annales d'endocrinologie 2022; (83(3)):186-187 doi:10.1016/j.ando.2022.04.005.

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.

Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan.

Takasawa K, Kashimada K

Frontiers in pediatrics 2022; (10()):936944 doi:10.3389/fped.2022.936944.

Salivary 17-Hydroxyprogesterone Levels in Children with Congenital Adrenal Hyperplasia: A Retrospective Longitudinal Study Considering Auxological Parameters.

Dubinski I, Bechtold S, Bidlingmaier M, et al.

Hormone research in paediatrics 2023; (96(3)):259-266 doi:10.1159/000526485.

Case of Junctional Rhythm in the Setting of Acute Adrenal Insufficiency.

Patel P, Kelschenbach K

Cureus 2022; (14(8)):e27605 doi:10.7759/cureus.27605.

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.

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.

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.

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.

Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH).

Hoyer-Kuhn H, Eckert AJ, Binder G, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(11)):e1199-e1204 doi:10.1210/clinem/dgad307.

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Jacob M, Lin-Su K, Catarozoli C, et al.

Journal of clinical research in pediatric endocrinology 2023; (15(4)):406-416 doi:10.4274/jcrpe.galenos.2023.2023-2-10.

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.

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.

Testicular adrenal rest tumor in a pediatric patient with congenital adrenal hyperplasia: A case report.

Ibdah MG, Tos SM, Giacaman N, et al.

Radiology case reports 2023; (18(11)):4149-4152 doi:10.1016/j.radcr.2023.08.081.

The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives.

de Hora M, Heather N, Webster D, et al.

Frontiers in endocrinology 2023; (14()):1226284 doi:10.3389/fendo.2023.1226284.

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.

Greaves RF, Kumar M, Mawad N, et al.

International journal of neonatal screening 2023; (9(4)) doi:10.3390/ijns9040058.

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.

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.

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.

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation.

Hou Y, Li Y, Ai J, Tian L

Heliyon 2024; (10(5)):e27042 doi:10.1016/j.heliyon.2024.e27042.

Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.

Sarafoglou K, Kim MS, Lodish M, et al.

The New England journal of medicine 2024; (391(6)):493-503 doi:10.1056/NEJMoa2404655.

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.

Metabolic emergencies in the NICU.

Gupta R, Joshi S, Asghar A, Gray MM

Seminars in perinatology 2024; (48(8)):151987 doi:10.1016/j.semperi.2024.151987.

Comprehensive adolescent healthcare transition program for congenital adrenal hyperplasia: A quality improvement initiative.

Dennis J, Pitts L, Matalka L, Mays LC

Health care transitions 2024; (2()):100057 doi:10.1016/j.hctj.2024.100057.

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.

Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Engberg H, Nordenström A, Hirschberg AL

The Journal of clinical endocrinology and metabolism 2025; (110(Supplement_1)):S37-S45 doi:10.1210/clinem/dgae696.

Crinecerfont: First Approval.

Lee A

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

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.

Current insights into monitoring of congenital adrenal hyperplasia.

Leusink QM, Verploegen EEW, Adriaansen BPH, et al.

Frontiers in endocrinology 2026; (17()):1774145 doi:10.3389/fendo.2026.1774145.