Details of Disease

General Information of Disease (ID: DISO74X3)

• Disease Name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• Synonyms: Male pseudohermaphroditism due to 5-Alpha-reductase deficiency; micropenis; 5-alpha reductase deficiency; familial incomplete Male pseudohermaphroditism, type 2; PPSH; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; pseudovaginal perineoscrotal hypospadias; 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; steroid 5-alpha-reductase deficiency; 5 Alpha steroid reductase 2 deficiency; Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
• Definition: A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
• Disease Hierarchy:
  DISMFQKM: Developmental anomaly of metabolic origin
  DISEOA7S: Lipid metabolism disorder
  DIS78CGG: 46,XY disorder of sex development
  DISO74X3: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009923
  MESH ID: C535830
  UMLS CUI: C0268297
  OMIM ID: 264600
  MedGen ID: 75667
  Orphanet ID: 753
  SNOMED CT ID: 738771004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GART	TTEXB9Z	moderate	Biomarker	[1]
SRD5A2	TTT02K8	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B3	DEX8J7E	Strong	Biomarker	[3]
SRD5A2	DEPTJ3D	Strong	Autosomal recessive	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAICS	OTMZN747	moderate	Biomarker	[1]
SRD5A2	OTTG0NFD	Strong	Autosomal recessive	[4]

References

• [1] Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):191-194. doi: 10.1515/jpem-2017-0351.
• [2] Molecular genetics and phenotype/genotype correlation of 5- reductase deficiency in a highly consanguineous population.Endocrine. 2019 Feb;63(2):361-368. doi: 10.1007/s12020-018-1767-1. Epub 2018 Sep 29.
• [3] Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development.Clin Endocrinol (Oxf). 2019 Aug;91(2):237-244. doi: 10.1111/cen.13994. Epub 2019 May 2.
• [4] Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. N Engl J Med. 1992 Oct 22;327(17):1216-9. doi: 10.1056/NEJM199210223271706.