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Adrenal hypoplasia, cytomegalic type

MedGen UID:
348509
•Concept ID:
C1859977
•
Disease or Syndrome
Synonym: Adrenal Hypoplasia, Cytomegalic Type
 
Monarch Initiative: MONDO:0008732
OMIM®: 202155

Professional guidelines

PubMed

MRI features and differential diagnoses of congenital vaginal atresia.
Xu S, Zhang J, Wang S, Yang L, Qian J, Yue S, Zhu D, Yang L, Zhao L, Yang A, Li Y, Xue Q
Gynecol Endocrinol 2019 Sep;35(9):777-781. Epub 2019 Apr 13 doi: 10.1080/09513590.2019.1588875. PMID: 30982355
Growth abnormalities associated with adrenal disorders and their management.
Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL
Horm Res 2001;56 Suppl 1:19-23. doi: 10.1159/000048129. PMID: 11786680

Recent clinical studies

Etiology

Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Morphologic and functional evaluation of duplicated renal collecting systems with MR urography: A descriptive analysis.
Calle-Toro JS, Maya CL, Emad-Eldin S, Adeb MD, Back SJ, Darge K, Otero HJ
Clin Imaging 2019 Sep-Oct;57:69-76. Epub 2019 May 15 doi: 10.1016/j.clinimag.2019.05.004. PMID: 31136881
MRI features and differential diagnoses of congenital vaginal atresia.
Xu S, Zhang J, Wang S, Yang L, Qian J, Yue S, Zhu D, Yang L, Zhao L, Yang A, Li Y, Xue Q
Gynecol Endocrinol 2019 Sep;35(9):777-781. Epub 2019 Apr 13 doi: 10.1080/09513590.2019.1588875. PMID: 30982355
Thick Clot in the Inferior Limiting Sulcus on Computed Tomography Image as an Indicator of Sylvian Subpial Hematoma in Patients with Aneurysmal Subarachnoid Hemorrhage.
Matsukawa H, Miyazaki T, Kiko K, Kamiyama H, Ota N, Noda K, Takahashi O, Shonai T, Fujisawa T, Tokuda S, Tanikawa R
World Neurosurg 2019 May;125:e612-e619. Epub 2019 Feb 1 doi: 10.1016/j.wneu.2019.01.138. PMID: 30716497

Diagnosis

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T
Clin Epigenetics 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. PMID: 33076988Free PMC Article
MRI features and differential diagnoses of congenital vaginal atresia.
Xu S, Zhang J, Wang S, Yang L, Qian J, Yue S, Zhu D, Yang L, Zhao L, Yang A, Li Y, Xue Q
Gynecol Endocrinol 2019 Sep;35(9):777-781. Epub 2019 Apr 13 doi: 10.1080/09513590.2019.1588875. PMID: 30982355
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M
Trends Mol Med 2014 Nov;20(11):614-22. Epub 2014 Sep 25 doi: 10.1016/j.molmed.2014.09.001. PMID: 25262539
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.
Phillips K, Arroyo MR, Duckworth LV
Pediatr Dev Pathol 2014 May-Jun;17(3):204-8. Epub 2014 Mar 11 doi: 10.2350/14-01-1421-OA.1. PMID: 24617583
Growth abnormalities associated with adrenal disorders and their management.
Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL
Horm Res 2001;56 Suppl 1:19-23. doi: 10.1159/000048129. PMID: 11786680

Therapy

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T
Clin Epigenetics 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. PMID: 33076988Free PMC Article
Convolutional Neural Networks for Recognition of Lymphoblast Cell Images.
Pansombut T, Wikaisuksakul S, Khongkraphan K, Phon-On A
Comput Intell Neurosci 2019;2019:7519603. Epub 2019 Jun 2 doi: 10.1155/2019/7519603. PMID: 31281337Free PMC Article
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
Kim YM, Seo GH, Kim GH, Ko JM, Choi JH, Yoo HW
BMC Med Genet 2018 Mar 5;19(1):35. doi: 10.1186/s12881-018-0546-4. PMID: 29506479Free PMC Article
Anesthetic and dental management of a child with IMAGe syndrome.
Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L
Anesth Prog 2014 Winter;61(4):165-8. doi: 10.2344/0003-3006-61.4.165. PMID: 25517553Free PMC Article

Prognosis

Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Thick Clot in the Inferior Limiting Sulcus on Computed Tomography Image as an Indicator of Sylvian Subpial Hematoma in Patients with Aneurysmal Subarachnoid Hemorrhage.
Matsukawa H, Miyazaki T, Kiko K, Kamiyama H, Ota N, Noda K, Takahashi O, Shonai T, Fujisawa T, Tokuda S, Tanikawa R
World Neurosurg 2019 May;125:e612-e619. Epub 2019 Feb 1 doi: 10.1016/j.wneu.2019.01.138. PMID: 30716497

Clinical prediction guides

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T
Clin Epigenetics 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. PMID: 33076988Free PMC Article
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Cystic biliary atresia or atretic choledochal cyst: A continuum in infantile obstructive cholangiopathy.
Mahalik SK, Mitra S, Patra S, Das K
Fetal Pediatr Pathol 2019 Dec;38(6):477-483. Epub 2019 Jun 17 doi: 10.1080/15513815.2019.1627621. PMID: 31204550
Thick Clot in the Inferior Limiting Sulcus on Computed Tomography Image as an Indicator of Sylvian Subpial Hematoma in Patients with Aneurysmal Subarachnoid Hemorrhage.
Matsukawa H, Miyazaki T, Kiko K, Kamiyama H, Ota N, Noda K, Takahashi O, Shonai T, Fujisawa T, Tokuda S, Tanikawa R
World Neurosurg 2019 May;125:e612-e619. Epub 2019 Feb 1 doi: 10.1016/j.wneu.2019.01.138. PMID: 30716497
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A
J Clin Endocrinol Metab 2014 Oct;99(10):E2117-22. Epub 2014 Jul 24 doi: 10.1210/jc.2014-1949. PMID: 25057881Free PMC Article

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