KEGG   DISEASE: 46,XY disorder of sex development due to testosterone secretion defect
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 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
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06019  Steroid hormone biosynthesis
   H00608  46,XY disorder of sex development due to testosterone secretion defect
Pathway
hsa00140  Steroid hormone biosynthesis
Network
nt06019 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: 238320 264300 264600
Reference
PMID:18279784
  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
PMID:18811725
  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
Reference
PMID:7719343 (LHCGR)
  Authors
Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, et al.
  Title
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
  Journal
Nat Genet 9:160-4 (1995)
DOI:10.1038/ng0295-160
Reference
PMID:8550739 (HSD17B3)
  Authors
Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW
  Title
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
  Journal
J Clin Endocrinol Metab 81:130-6 (1996)
DOI:10.1210/jcem.81.1.8550739
Reference
PMID:1944596 (SRD5A2)
  Authors
Andersson S, Berman DM, Jenkins EP, Russell DW
  Title
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.
  Journal
Nature 354:159-61 (1991)
DOI:10.1038/354159a0
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