46,XY difference of sex development due to isolated 17,20-lyase deficiency
Name: |
46,XY difference of sex development due to isolated 17,20-lyase deficiency
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Description: |
A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, 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.
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ORPHAcode: |
90796
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Synonyms: |
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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