| Entry |
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| Name |
46,XY disorder of sex development due to testosterone secretion defect |
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| Subgroup |
Leydig cell hypoplasia Congenital adrenal hyperplasia [DS: H00216] 17 beta-hydroxysteroid dehydrogenase deficiency 5 alpha-reductase deficiency |
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| Supergrp |
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| Description |
46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD.
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| Category |
Reproductive system disease
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| Brite |
Human diseases [BR:br08402]
Reproductive system diseases
Reproductive system diseases
H00608 46,XY disorder of sex development due to testosterone secretion defect
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2A Malformative disorders of sex development
H00608 46,XY disorder of sex development due to testosterone secretion defect
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| Pathway |
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| Gene |
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| Reference |
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| Authors |
Hughes IA |
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| Title |
Disorders of sex development: a new definition and classification. |
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| Journal |
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| Reference |
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| Authors |
Mendonca BB, Domenice S, Arnhold IJ, Costa EM |
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| Title |
46,XY disorders of sex development (DSD). |
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| Journal |
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| LinkDB |
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