Familial or Sporadic Adrenal Hypoplasia Syndromes.
Kyritsi EM, Sertedaki A, Charmandari E, Chrousos GP.
2018 Oct 22. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA.
2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Prader-Willi Syndrome.
Driscoll DJ, Miller JL, Cassidy SB.
1998 Oct 6 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME.
J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11.
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W.
Orphanet J Rare Dis. 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y.
NR0B1-Related Adrenal Hypoplasia Congenita.
Achermann JC, Vilain EJ.
2001 Nov 20 [updated 2018 Jan 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.
Liu S, Yan L, Zhou X, Chen C, Wang D, Yuan G.
J Int Med Res. 2020 Feb;48(2):300060519882151. doi: 10.1177/0300060519882151. Epub 2019 Oct 23.
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.
Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL.
J Clin Invest. 1996 Aug 15;98(4):1055-62. doi: 10.1172/JCI118866.
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
Suthiworachai C, Tammachote R, Srichomthong C, Ittiwut R, Suphapeetiporn K, Sahakitrungruang T, Shotelersuk V.
J Endocr Soc. 2018 Dec 12;3(1):171-180. doi: 10.1210/js.2018-00270. eCollection 2019 Jan 1.
[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].
García-Medina JS, Sarmiento-Ramón MP, Lopera-Cañaveral MV, Zuluaga-Espinosa NA, Forero-Torres AC, Toro-Ramos M, Pineda-Trujillo N.
Andes Pediatr. 2022 Aug;93(4):585-590. doi: 10.32641/andespediatr.v93i4.4019.
