Research & Literature

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

Xie T, Zheng JP, Huang YL, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015; (17(5)):472-6.

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.

Disorders in the initial steps of steroid hormone synthesis.

Miller WL

The Journal of steroid biochemistry and molecular biology 2017; (165(Pt A)):18-37 doi:10.1016/j.jsbmb.2016.03.009.

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.

Albarel F, Perrin J, Jegaden M, et al.

Human reproduction (Oxford, England) 2016; (31(11)):2609-2612 doi:10.1093/humrep/dew239.

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Kang E, Kim YM, Kim GH, et al.

Molecular medicine (Cambridge, Mass.) 2017; (23()):149-154 doi:10.2119/molmed.2017.00023.

A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.

Fu R, Lu L, Jiang J, et al.

Medicine 2017; (96(21)):e6994 doi:10.1097/MD.0000000000006994.

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

Bizzarri C, Pisaneschi E, Mucciolo M, et al.

Italian journal of pediatrics 2017; (43(1)):57 doi:10.1186/s13052-017-0371-y.

Primary Adrenal Insufficiency: Managing Mineralocorticoid Replacement Therapy.

Esposito D, Pasquali D, Johannsson G

The Journal of clinical endocrinology and metabolism 2018; (103(2)):376-387 doi:10.1210/jc.2017-01928.

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.

Burget L, Parera LA, Fernandez-Cancio M, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-18-0003.

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.

Therapeutic patient education in adrenal insufficiency.

Guignat L

Annales d'endocrinologie 2018; (79(3)):167-173 doi:10.1016/j.ando.2018.03.002.

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

Zhao X, Su Z, Liu X, et al.

BMC endocrine disorders 2018; (18(1)):78 doi:10.1186/s12902-018-0307-6.

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.

Hatabu N, Amano N, Mori J, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(5)):1866-1870 doi:10.1210/jc.2018-01752.

In Vivo Verification of the Pathophysiology of Lipoid Congenital Adrenal Hyperplasia in the Adrenal Cortex.

Mizuno Y, Ishii T, Hasegawa T

Endocrinology 2019; (160(2)):331-338 doi:10.1210/en.2018-00777.

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.

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.

Ishii T, Hori N, Amano N, et al.

Journal of the Endocrine Society 2019; (3(7)):1367-1374 doi:10.1210/js.2019-00086.

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.

Pofi R, Prete A, Thornton-Jones V, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(1)) doi:10.1210/clinem/dgz055.

Vomiting and Cardiac Arrest in a 10-Year-Old Girl.

Zorko DJ, Samaan MC, Gupta R

Pediatric emergency care 2021; (37(12)):e1747-e1749 doi:10.1097/PEC.0000000000001957.

Pharmacokinetic/Pharmacodynamic Evaluation of Hydrocortisone Therapy in Pediatric Patients with Congenital Adrenal Hyperplasia.

Melin J, Parra-Guillen ZP, Michelet R, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(3)) doi:10.1210/clinem/dgaa071.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Bae H, Kim MS, Park H, et al.

Annals of pediatric endocrinology & metabolism 2020; (25(1)):46-51 doi:10.6065/apem.2020.25.1.46.

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.

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Ishii T, Tajima T, Kashimada K, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(11)) doi:10.1210/clinem/dgaa557.

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.

Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, et al.

International journal of molecular sciences 2020; (21(17)) doi:10.3390/ijms21176185.

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.

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.

Gao J, Chen L

Frontiers in pediatrics 2020; (8()):464 doi:10.3389/fped.2020.00464.

Bone Mineral Density in Adults With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.

Rangaswamaiah S, Gangathimmaiah V, Nordenstrom A, Falhammar H

Frontiers in endocrinology 2020; (11()):493 doi:10.3389/fendo.2020.00493.

Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.

Zhang T, Ma X, Wang J, et al.

The Journal of steroid biochemistry and molecular biology 2021; (206()):105788 doi:10.1016/j.jsbmb.2020.105788.

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.

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.

Bacila I, Freeman N, Daniel E, et al.

European journal of endocrinology 2021; (184(4)):553-563.

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.

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.

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 applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.

Li Z, Liang Y, Du C, et al.

BMC endocrine disorders 2021; (21(1)):237 doi:10.1186/s12902-021-00901-8.

Disorders of Sex Development of Adrenal Origin.

Finkielstain GP, Vieites A, Bergadá I, Rey RA

Frontiers in endocrinology 2021; (12()):770782 doi:10.3389/fendo.2021.770782.

[Emergency card, emergency medication, and information leaflet for the prevention and treatment of adrenal crisis (Addison crisis): an Austrian consensus document].

Pilz S, Krebs M, Bonfig W, et al.

Journal fur klinische Endokrinologie und Stoffwechsel 2022; (15(1)):5-27 doi:10.1007/s41969-022-00155-2.

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.

Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency.

Ceccato F, Torchio M, Tizianel I, et al.

Journal of endocrinological investigation 2023; (46(1)):111-122 doi:10.1007/s40618-022-01889-1.

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.

Bacila I, Lawrence NR, Mahdi S, et al.

European journal of endocrinology 2022; (187(4)):543-553 doi:10.1530/EJE-21-1109.

[Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia].

Zheng WQ, Duan Y, Xiao B, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(10)):1066-1071 doi:10.3760/cma.j.cn112140-20220322-00233.

Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.

Ferrigno R, Cioffi D, Pellino V, et al.

Endocrine 2023; (80(1)):1-9 doi:10.1007/s12020-022-03236-z.

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.

Lu W, Zhang T, Zhang L, et al.

Frontiers in endocrinology 2022; (13()):947762 doi:10.3389/fendo.2022.947762.

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.

Two Girls With Adrenal Insufficiency and Failing Gonads.

Poon SW, Li RH, Tung JY

JCEM case reports 2023; (1(3)):luad044 doi:10.1210/jcemcr/luad044.

Rare forms of congenital adrenal hyperplasia.

Gurpinar Tosun B, Guran T

Clinical endocrinology 2024; (101(4)):371-385 doi:10.1111/cen.15009.

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Phadte A, Dhole C, Hegishte S, et al.

Clinical endocrinology 2024; (100(5)):431-440 doi:10.1111/cen.15032.

Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study.

Tschaidse L, Wimmer S, Nowotny HF, et al.

European journal of endocrinology 2024; (190(4)):275-283 doi:10.1093/ejendo/lvae023.

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM, Augsburger P, Pandey AV, Flück CE

The Journal of endocrinology 2024; (262(3)).

A novel variant of the STAR gene: nonclassical presentation from Turkey.

Aytaç Kaplan EH, Gezdirici A, Kocabey Sütçü Z, Gökpinar İli E

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(9)):835-839 doi:10.1515/jpem-2024-0156.

Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR.

Sato T, Narumi S, Sakuma T, et al.

Journal of molecular endocrinology 2024; (73(4)).

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.

Treatment and Follow-up of Non-stress Adrenal Insufficiency

Buğrul F, Özcan Murat N

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):93-101 doi:10.4274/jcrpe.galenos.2024.2024-6-23-S.

Thirty years of StAR gazing. Expanding the universe of the steroidogenic acute regulatory protein.

Miller WL

The Journal of endocrinology 2025; (264(3)).

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.

STAR/STARD1: A mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP, Zhao AH, Kern MC, et al.

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(41)):e2508809122 doi:10.1073/pnas.2508809122.

The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.

Lim JH, Cheon YP

Development & reproduction 2025; (29(3)):63-80 doi:10.12717/DR.2025.29.3.63.

The Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs).

Mangam NB, Deb P, Nalla S, et al.

Cureus 2025; (17(10)):e94192 doi:10.7759/cureus.94192.

Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency

Çetin K, Donbaloğlu Z, Bahar YF, et al.

Journal of clinical research in pediatric endocrinology 2026; (18(2)):305-313 doi:10.4274/jcrpe.galenos.2025.2025-9-15.

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.

Alabduljabbar A, Farooq D, Abid S, et al.

Case reports in endocrinology 2026; (2026()):8489134 doi:10.1155/crie/8489134.

Clinical Characteristics and Outcomes of Korean Patients with Lipoid Congenital Adrenal Hyperplasia: An Analysis of Data from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) Cohort Study.

Lee Y, Kim M, Lee YJ, et al.

Endocrinology and metabolism (Seoul, Korea) 2026; (41(4)):566-578 doi:10.3803/EnM.2025.2611.

Gonadotropin-Releasing Hormone Analog Followed by Sex Hormone Therapy as a Preventive Strategy against Ovarian Complications in Congenital Lipoid Adrenal Hyperplasia: A Case Report.

Ishii T, Shindo J, Hashimoto N, et al.

Hormone research in paediatrics 2026; 1-8 doi:10.1159/000553134.

Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approaches.

Giri D, Alderson J, Bashir M, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(10)):961-976 doi:10.1515/jpem-2026-0106.

Two siblings with lipoid congenital adrenal hyperplasia: first reported case in Serbia and literature review.

Jesic MD, Kovacevic S, Zdravkovic V, et al.

Frontiers in endocrinology 2026; (17()):1912249 doi:10.3389/fendo.2026.1912249.

Transition from Pediatric to Adult Endocrine Care in Patients with Congenital Adrenal Hyperplasia: A Single-Center Retrospective Analysis.

Mercan Sarıdaş F, Karatoprak K, Nursoy H, et al.

Medicina (Kaunas, Lithuania) 2026; (62(9)) doi:10.3390/medicina62091755.

Adrenal Crisis in an Adult Patient With Lipoid Congenital Adrenal Hyperplasia due to STAR Protein Mutation.

Zavgorodneva Z, Kaljevic M, Chen K

AACE endocrinology and diabetes 2026; (13(5)):788-791 doi:10.1016/j.aed.2026.04.016.