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Infantilism, Sexual

MedGen UID:
69170
•Concept ID:
C0242341
•
Disease or Syndrome
Synonym: Sexual Infantilism

Definition

The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantilism, Sexual

Professional guidelines

PubMed

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X
J Clin Endocrinol Metab 2006 Sep;91(9):3619-25. Epub 2006 Jun 13 doi: 10.1210/jc.2005-2283. PMID: 16772352

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