Details of Disease

General Information of Disease (ID: DISR1LAL)

• Disease Name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• Synonyms: 17-KSR deficiency; 17 alpha KSR deficiency; pseudohermaphroditism, Male, with gynecomastia; 17 alpha ketosteroid reductase deficiency of testis; polycystic ovary syndrome due to 17-ketosteroid reductase deficiency; neutral 17 beta hydroxysteroid oxidoreductase deficiency; 17-Beta hydroxysteroid dehydrogenase 3 deficiency; 17 beta hydroxysteroid dehydrogenase III deficiency; 17-ketosteroid reductase deficiency of testis; neutral 17-Beta-hydroxysteroid oxidoreductase deficiency; 17-BETA hydroxysteroid dehydrogenase III deficiency; Male pseudoherma-phroditism with gynecomastia; polycystic ovarian disease due to 17-ketosteroid reductase deficiency; 17-beta hydroxysteroid dehydrogenase 3 deficiency; Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 17 Beta HSD3 deficiency; 17 beta HSD3 deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• Definition: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS78CGG: 46,XY disorder of sex development
  DISR1LAL: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009916
  MESH ID: C537805
  UMLS CUI: C0268296
  OMIM ID: 264300
  MedGen ID: 120626
  Orphanet ID: 752
  SNOMED CT ID: 50658006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B13	TTDJYZR	Strong	Biomarker	[1]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B3	DEX8J7E	Strong	Autosomal recessive	[2]
HSD17B3	DEX8J7E	Strong	Genetic Variation	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHRS11	OTU3J0ZL	Strong	Biomarker	[1]
HSD17B3	OT45D396	Strong	Autosomal recessive	[2]

References

• [1] Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.J Pediatr Endocrinol Metab. 2015 May;28(5-6):623-8. doi: 10.1515/jpem-2014-0295.
• [2] A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea. Sex Dev. 2013;7(6):277-81. doi: 10.1159/000351822. Epub 2013 Jun 18.
• [3] 46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):74-78. doi: 10.4274/jcrpe.4829. Epub 2017 Jul 24.