Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2011 1
2019 1
2020 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F, Achermann JC. Buonocore F, et al. Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30. Clin Endocrinol (Oxf). 2020. PMID: 31610036 Free PMC article. Review.
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome …
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dy …
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
Çamtosun E, Dündar İ, Akıncı A, Kayaş L, Çiftci N. Çamtosun E, et al. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):88-99. doi: 10.4274/jcrpe.galenos.2020.2020.0132. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938577 Free PMC article.
Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown …
Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple …
Presentation of primary adrenal insufficiency in childhood.
Hsieh S, White PC. Hsieh S, et al. J Clin Endocrinol Metab. 2011 Jun;96(6):E925-8. doi: 10.1210/jc.2011-0015. Epub 2011 Apr 6. J Clin Endocrinol Metab. 2011. PMID: 21470994
These had etiologies as follows: autoimmune (18), autoimmune polyendocrinopathy syndrome (an additional five), ACTH resistance (four), adrenoleukodystrophy (three), adrenal hypoplasia congenita (two), adrenal hemorrhage (two), IMAGe syndrome (one), and idiopathic (t …
These had etiologies as follows: autoimmune (18), autoimmune polyendocrinopathy syndrome (an additional five), ACTH resistance (four), adren …
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Tan TY, et al. Am J Med Genet A. 2006 Aug 15;140(16):1778-84. doi: 10.1002/ajmg.a.31365. Am J Med Genet A. 2006. PMID: 16835919
We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed....
We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Othe …
Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management.
Simm PJ, McDonnell CM, Zacharin MR. Simm PJ, et al. J Paediatr Child Health. 2004 Nov;40(11):596-9. doi: 10.1111/j.1440-1754.2004.00482.x. J Paediatr Child Health. 2004. PMID: 15469526
Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy and one with IMAGe syndrome. CONCLUSIONS: A high index of suspicion results in earlier detection and possible prevention of adr …
Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy a …