46,XY sex reversal 8

Summary
Synonym
  • SRXY8
  • TDD
  • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Definition
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
Super Class
46,XY sex reversal autosomal recessive disease
External Links
Disease Ontology
DOID:0111773
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1646 AKR1C2 aldo-keto reductase family 1 member C2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851974 YPR1 trifunctional aldehyde reductase/carbonyl reductase (NADPH)/glucose 1-dehydrogenase (NADP(+)) YPR1
854287 GCY1 glycerol 2-dehydrogenase (NADP(+)) GCY1
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000037 Male pseudohermaphroditism
HP:0000062 Ambiguous genitalia
HP:0000007 Autosomal recessive inheritance
HP:0012245 Sex reversal
HP:0000028 Cryptorchidism
Displaying all 2 entries
Gene ID Gene Symbol Description
1109 AKR1C4 aldo-keto reductase family 1 member C4
1646 AKR1C2 aldo-keto reductase family 1 member C2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024