Androgen-Insensitivity Syndrome [syndrom rezistence na androgeny]

topical
56
Terms

částečná rezistence na androgeny
deficit androgenních receptorů
Reifensteinův syndrom
syndrom androgenní insenzivity
syndrom necitlivosti na androgeny
syndrom testikulární feminizace
testikulární feminizace

 

Androgen Insensitivity Syndrome
Androgen Insensitivity, Partial
Androgen Receptor Deficiency
Androgen Resistance Syndrome
Androgen-Insensitivity Syndrome, Complete
Androgen-Insensitivity Syndrome, Partial
AR Deficiency
DHTR Deficiency
Dihydrotestosterone Receptor Deficiency
Male Pseudohermaphroditism Due to Androgen Insensitivity
Reifenstein Syndrome
Reifenstein's Syndrome
Testicular Feminization
Testicular Feminization Syndrome

Persistent link   https://www.medvik.cz/link/D013734
Definition

A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

Annotation
check the tag MALE
DUI
D013734 MeSH Browser
CUI
M0021189
Previous indexing
Sex Differentiation Disorders (1966-1967)
History note
2002(1968)
Public note
2002; see TESTICULAR FEMINIZATION (1970-2001)

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 3
DI
diagnosis 26
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 1
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology 6
GE
genetics 15
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 6
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery 6
TH
therapy 9
UR
urine
VE
veterinary 1
VI
virology

C Diseases
C12 Urogenital Diseases 8
C12.050 Female Urogenital Diseases and Pregnancy Complications 132
C12.050.351 Female Urogenital Diseases 153
C12.050.351.875 Urogenital Abnormalities 146
C12.050.351.875.253 Disorders of Sex Development 232
C12.050.351.875.253.096 Disorder of Sex Development, 46,XY 8
C12.050.351.875.253.096.500 Androgen-Insensitivity Syndrome 56
C12.050.351.875.253.096.562 Denys-Drash Syndrome 2
C12.050.351.875.253.096.624 Frasier Syndrome
C12.050.351.875.253.096.687 Gonadal Dysgenesis, 46,XY 22
C12.050.351.875.253.096.750 Kallmann Syndrome 10
C12.050.351.875.253.096.875 WAGR Syndrome 3
C12.200 Male Urogenital Diseases 200
C12.200.706 Urogenital Abnormalities 146
C12.200.706.316 Disorders of Sex Development 232
C12.200.706.316.096 Disorder of Sex Development, 46,XY 8
C12.200.706.316.096.500 Androgen-Insensitivity Syndrome 56
C12.200.706.316.096.562 Denys-Drash Syndrome 2
C12.200.706.316.096.624 Frasier Syndrome
C12.200.706.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.200.706.316.096.750 Kallmann Syndrome 10
C12.200.706.316.096.875 WAGR Syndrome 3
C12.800 Urogenital Abnormalities 146
C12.800.316 Disorders of Sex Development 232
C12.800.316.096 Disorder of Sex Development, 46,XY 8
C12.800.316.096.500 Androgen-Insensitivity Syndrome 56
C12.800.316.096.562 Denys-Drash Syndrome 2
C12.800.316.096.624 Frasier Syndrome
C12.800.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.800.316.096.750 Kallmann Syndrome 10
C12.800.316.096.875 WAGR Syndrome 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.939 Urogenital Abnormalities 146
C16.131.939.316 Disorders of Sex Development 232
C16.131.939.316.096 Disorder of Sex Development, 46,XY 8
C16.131.939.316.096.500 Androgen-Insensitivity Syndrome 56
C16.131.939.316.096.562 Denys-Drash Syndrome 2
C16.131.939.316.096.624 Frasier Syndrome
C16.131.939.316.096.687 Gonadal Dysgenesis, 46,XY 22
C16.131.939.316.096.750 Kallmann Syndrome 10
C16.131.939.316.096.875 WAGR Syndrome 3
C16.320 Genetic Diseases, Inborn 1 215
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 189
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 216
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.562 Muscular Dystrophy, Duchenne 136
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 20
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
C19 Endocrine System Diseases 887
C19.391 Gonadal Disorders 40
C19.391.119 Disorders of Sex Development 232
C19.391.119.096 Disorder of Sex Development, 46,XY 8
C19.391.119.096.500 Androgen-Insensitivity Syndrome 56
C19.391.119.096.562 Denys-Drash Syndrome 2
C19.391.119.096.624 Frasier Syndrome
C19.391.119.096.687 Gonadal Dysgenesis, 46,XY 22
C19.391.119.096.750 Kallmann Syndrome 10
C19.391.119.096.875 WAGR Syndrome 3

Androgen Insensitivity Syndrome due to Coactivator Deficiency Disease MeSH Browser

Lubs syndrome Disease MeSH Browser

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