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46,XY gonadal dysgenesis, partial, with minifascicular neuropathy

MedGen UID:
442702
Concept ID:
C2751325
Disease or Syndrome
Synonyms: DHH-Related 46,XY DSD and 46,XY CGD
 
Gene (location): DHH (12q13.12)
OMIM®: 607080
Orphanet: ORPHA168563

Definition

46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

Clinical features

Gonadal dysgenesis
MedGen UID:
504357
Concept ID:
CN000129
Finding
Gonadal dysgenesis, male
MedGen UID:
446948
Concept ID:
CN007626
Finding
Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
Polyneuropathy
MedGen UID:
504780
Concept ID:
CN001165
Finding
A generalized disorder of peripheral nerves.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
505527
Concept ID:
CN003050
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
Follow this link to review classifications for 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy in Orphanet.

Suggested Reading

PubMed

Ostrer H, Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K
1993 PMID: 20301714

Recent clinical studies

Prognosis

Umehara F, Tate G, Itoh K, Osame M
Cell Mol Biol (Noisy-le-grand) 2002 Mar;48(2):187-9. PMID: 11990454
Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T, Osame M
Am J Hum Genet 2000 Nov;67(5):1302-5. Epub 2000 Oct 2 doi: 10.1016/S0002-9297(07)62958-9. [Epub ahead of print] PMID: 11017805Free PMC Article

Clinical prediction guides

Umehara F, Tate G, Itoh K, Osame M
Cell Mol Biol (Noisy-le-grand) 2002 Mar;48(2):187-9. PMID: 11990454
Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T, Osame M
Am J Hum Genet 2000 Nov;67(5):1302-5. Epub 2000 Oct 2 doi: 10.1016/S0002-9297(07)62958-9. [Epub ahead of print] PMID: 11017805Free PMC Article

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