Familial or Sporadic Adrenal Hypoplasia Syndromes.
Kyritsi EM, Sertedaki A, Charmandari E, Chrousos GP.
2018 Oct 22. In: Feingold KR, Adler RA, Ahmed SF, Anawalt B, Blackman MR, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hamilton E, Hofland J, Jan de Beur S, Kalra S, Kaltsas G, Kapoor N, Kim M, 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, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
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.
IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA.
2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Prader-Willi Syndrome.
Driscoll DJ, Miller JL, Cassidy SB.
1998 Oct 6 [updated 2026 Feb 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
USP7-Related Hao-Fountain Syndrome.
Schaaf C, Sailer S.
2025 Dec 4. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
NR0B1-Related Adrenal Hypoplasia Congenita.
Achermann JC, Vilain EJ.
2001 Nov 20 [updated 2018 Jan 25]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
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.
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
Zhu F, Zhou M, Deng X, Li Y, Xiong J.
Front Endocrinol (Lausanne). 2022 Jun 16;13:897069. doi: 10.3389/fendo.2022.897069. eCollection 2022.
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Qin G, Ji H, Li X, Ma X, Wang D.
J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):809-14. doi: 10.1515/jpem-2014-0156.
