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Definition
 
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Pain Insensitivity, Congenital definition: A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from nonnoxious stimuli. Absent corneal reflexes and MENTAL RETARDATION may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Androgen-Insensitivity Syndrome definition: A familial form of PSEUDOHERMAPHRODITISM 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.
Reifenstein Syndrome definition: A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE.
Laron Syndrome definition: An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.
testicular feminization definition: aspects of female morphology in a XY genotype caused by defects in cellular receptors for testosterone and dihydrotestosterone, transmitted as an x-linked trait.
complete androgen insensitivity syndrome (CAIS) definition: Sexual ambiguity in males due to a sexual differentiation disorder caused by testicular failure to respond to androgens. The affected males have abdominal and inguinal testes, female external genitalia and breasts, blind vaginas, and absent uteri. Some patients have absent pubic and axillary hair, hence the synonym "hairless pseudofemale." Mental retardation occurs in some cases.
Testicular Feminization definition: A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype.
 
Publications
 

Valine 738 and lysine 735 in the fifth transmembrane domain of rTas1r3 mediate insensitivity towards lactisole of the rat sweet taste receptor

Marcel Winnig et al.

BMC Neuroscience , 07 Apr 2005

Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

Paul-Martin Holterhus et al.

Genome Biology , 2003

A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse.

W W He et al.

Nucleic Acids Research , 11 May 1991

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

Paul-Martin Holterhus et al.

BMC Genomics , 18 Oct 2007

Selective Inflammatory Pain Insensitivity in the African Naked Mole-Rat ( Heterocephalus glaber )

Thomas J Park et al.

PLoS Biology , 01 Jan 2008

Analysis of putative RNase sensitivity and protease insensitivity of demethylation activity in extracts from rat myoblasts.

J F Swisher et al.

Nucleic Acids Research , 15 Dec 1998

Escherichia coli DNA synthesis in vitro: insensitivity of ATP-dependent DNA repair to inhibition by novobiocin.

P K Schneck et al.

Nucleic Acids Research , 01 Jun 1977

Insensitivity of Paediatric HIV-1 Subtype C Viruses to Broadly Neutralising Monoclonal Antibodies Raised against Subtype B

Elin Solomonovna Gray et al.

PLoS Medicine , 01 Jul 2006

Calcium insensitivity of FA-6, a cell line derived from a pancreatic cancer associated with humoral hypercalcemia, is mediated by the significantly reduced expression of the Calcium Sensitive Receptor transduction component p38 MAPK

Richard Morgan et al.

Molecular Cancer , 01 Nov 2006

Identification, cloning and characterization of sis7 and sis10 sugar-insensitive mutants of Arabidopsis: ... The degree of sugar insensitivity of different ...

Yadong Huang et al.

BMC Plant Biology , 14 Oct 2008

48 further publications >>