Details of Disease

General Information of Disease (ID: DIS5BTLG)

• Disease Name: Obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
• Definition: OBSOLETE. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DIS5BTLG: Obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYB5A	DE9A2LB	Supportive	Autosomal recessive	[1]
CYP17A1	DEX2KIA	Supportive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYB5A	OT6SN4RM	Supportive	Autosomal recessive	[1]
CYP17A1	OTZKVLVJ	Supportive	Autosomal recessive	[2]

References

• [1] Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab. 2010 Mar;95(3):994-9. doi: 10.1210/jc.2008-1745. Epub 2010 Jan 15.
• [2] Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J Clin Endocrinol Metab. 2002 Dec;87(12):5714-21. doi: 10.1210/jc.2001-011880.