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.
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.
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.
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.
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ.
J Reprod Med. 1984 Jun;29(6):399-410.
A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.
Mastoropoulou A, Lane AH.
J Pediatr Endocrinol Metab. 2024 Oct 30;37(12):1086-1090. doi: 10.1515/jpem-2024-0321. Print 2024 Dec 17.
