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Agenesis of uterus

MedGen UID:
120574
•Concept ID:
C0266384
•
Congenital Abnormality
Synonym: Uterine agenesis
SNOMED CT: Congenital absence of uterus (17142008); Congenital aplasia of uterus (17142008); Ametria (17142008); Agenesis of uterus (204844007); Aplasia of uterus (17142008)

Definition

A congenital abnormality characterized by the complete absence of the uterus. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAgenesis of uterus

Professional guidelines

PubMed

Infertility: Evaluation and Management.
Phillips K, Olanrewaju RA, Omole F
Am Fam Physician 2023 Jun;107(6):623-630. PMID: 37327165
Diagnosis and treatment of müllerian malformations.
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Uterine septum: a guideline.
Practice Committee of the American Society for Reproductive Medicine. Electronic address: [email protected]; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766

Recent clinical studies

Diagnosis

Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Dorosiev E, Muzikadzhieva G, Mladenov B, Stoev I, Velev D
Folia Med (Plovdiv) 2021 Oct 31;63(5):815-818. doi: 10.3897/folmed.63.e63325. PMID: 35851218
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
Reynaert N, de Zegher F, Francois I, Devriendt K, Beckers D, Casteels K
Horm Res Paediatr 2016;85(4):288-90. Epub 2016 Jan 8 doi: 10.1159/000443308. PMID: 26741373

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