KEGG   DISEASE: 46,XY disorder of sex development due to testosterone secretion defectHelp
Entry
H00608                      Disease                                

Name
46,XY disorder of sex development due to testosterone secretion defect
  Subgroup
Leydig cell hypoplasia
Congenital adrenal hyperplasia [DS:H00216]
17 beta-hydroxysteroid dehydrogenase deficiency
5 alpha-reductase deficiency
  Supergrp
Male hypogonadism [DS:H02027]
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.
Category
Reproductive system disease
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
BRITE hierarchy
Pathway
hsa00140 Steroid hormone biosynthesis   
Gene
LHCGR [HSA:3973] [KO:K04248]
HSD17B3 [HSA:3293] [KO:K10207]
SRD5A2 [HSA:6716] [KO:K12344]
Other DBs
ICD-11: LD2A.3
ICD-10: Q56.1
MeSH: D058490
OMIM: 201710 264300 264600
Reference
  Authors
Hughes IA
  Title
Disorders of sex development: a new definition and classification.
  Journal
Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
DOI:10.1016/j.beem.2007.11.001
Reference
  Authors
Mendonca BB, Domenice S, Arnhold IJ, Costa EM
  Title
46,XY disorders of sex development (DSD).
  Journal
Clin Endocrinol (Oxf) 70:173-87 (2009)
DOI:10.1111/j.1365-2265.2008.03392.x

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