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Congenital Adrenal Insufficiency

MedGen UID:
502530
•Concept ID:
C3502131
•
Disease or Syndrome
Synonym: Adrenal Insufficiency, Congenital

Professional guidelines

PubMed

Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL, Jafri A, Metherell LA, Hebenstreit D, Dunn WB, Arlt W, Foster PA
Endocrinology 2018 Aug 1;159(8):2836-2849. doi: 10.1210/en.2018-00014. PMID: 29850793Free PMC Article

Recent clinical studies

Etiology

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
Wang R, Luo X, Sun Y, Liang L, Mao A, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Han L, Zhang H, Gu X, Qiu W, Yu Y
J Clin Endocrinol Metab 2025 Jan 21;110(2):406-416. doi: 10.1210/clinem/dgae519. PMID: 39049755
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Koh JW, Kim GH, Yoo HW, Yu J
J Korean Med Sci 2013 Nov;28(11):1650-6. Epub 2013 Oct 31 doi: 10.3346/jkms.2013.28.11.1650. PMID: 24265530Free PMC Article
High-resolution biomedical gas chromatography. Determination of human urinary steroid metabolites using glass open tubular capillary columns.
Pfaffenberger CD, Horning EC
J Chromatogr 1975 Oct 29;112:581-94. doi: 10.1016/s0021-9673(00)99987-4. PMID: 127000

Diagnosis

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
Wang R, Luo X, Sun Y, Liang L, Mao A, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Han L, Zhang H, Gu X, Qiu W, Yu Y
J Clin Endocrinol Metab 2025 Jan 21;110(2):406-416. doi: 10.1210/clinem/dgae519. PMID: 39049755
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T
Hum Mutat 2017 Apr;38(4):365-372. Epub 2017 Mar 6 doi: 10.1002/humu.23192. PMID: 28181337Free PMC Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y
Eur J Endocrinol 2016 Jul;175(1):73-84. Epub 2016 Apr 29 doi: 10.1530/EJE-16-0056. PMID: 27129361
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Koh JW, Kim GH, Yoo HW, Yu J
J Korean Med Sci 2013 Nov;28(11):1650-6. Epub 2013 Oct 31 doi: 10.3346/jkms.2013.28.11.1650. PMID: 24265530Free PMC Article

Therapy

Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency.
Stagi S, Del Greco P, Ricci F, Iurato C, Poggi G, Seminara S, de Martino M
Ital J Pediatr 2014 Sep 26;40:78. doi: 10.1186/s13052-014-0078-2. PMID: 25255796Free PMC Article
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Koh JW, Kim GH, Yoo HW, Yu J
J Korean Med Sci 2013 Nov;28(11):1650-6. Epub 2013 Oct 31 doi: 10.3346/jkms.2013.28.11.1650. PMID: 24265530Free PMC Article

Prognosis

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.
Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Woelfle J
BMC Endocr Disord 2019 Oct 30;19(1):116. doi: 10.1186/s12902-019-0448-2. PMID: 31666050Free PMC Article
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL, Jafri A, Metherell LA, Hebenstreit D, Dunn WB, Arlt W, Foster PA
Endocrinology 2018 Aug 1;159(8):2836-2849. doi: 10.1210/en.2018-00014. PMID: 29850793Free PMC Article
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.
Pomahačová R, Sýkora J, Zamboryová J, Paterová P, Varvařovská J, Šubrt I, Dort J, Dortová E
J Pediatr Endocrinol Metab 2016 Jun 1;29(6):749-52. doi: 10.1515/jpem-2015-0255. PMID: 27008691

Clinical prediction guides

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
Wang R, Luo X, Sun Y, Liang L, Mao A, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Han L, Zhang H, Gu X, Qiu W, Yu Y
J Clin Endocrinol Metab 2025 Jan 21;110(2):406-416. doi: 10.1210/clinem/dgae519. PMID: 39049755
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.
Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Woelfle J
BMC Endocr Disord 2019 Oct 30;19(1):116. doi: 10.1186/s12902-019-0448-2. PMID: 31666050Free PMC Article
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL, Jafri A, Metherell LA, Hebenstreit D, Dunn WB, Arlt W, Foster PA
Endocrinology 2018 Aug 1;159(8):2836-2849. doi: 10.1210/en.2018-00014. PMID: 29850793Free PMC Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y
Eur J Endocrinol 2016 Jul;175(1):73-84. Epub 2016 Apr 29 doi: 10.1530/EJE-16-0056. PMID: 27129361

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