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Androgen insensitivity syndrome (AIS) [PDF]
, 2012 SummaryAndrogen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens ...
Bunch, Trevor I. +8 more
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Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]
, 2006 Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
core +1 more source
Mutational analysis of androgen receptor gene in two families with androgen insensitivity
Indian Journal of Endocrinology and Metabolism, 2017 Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.
Radha Ramadevi Akella
doaj +1 more source
Frontiers in Genetics, 2022 Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700).
Xiaojing He +9 more
doaj +1 more source
Androgen insensitivity syndrome: discussion based on three cases [PDF]
, 2017 Androgen insensitivity syndrome is an X-linked recessive condition due to a complete or partial insensitivity to androgen, resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals.
Sharma, Gaurav, Ghode, Rita
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Complete androgen insensitivity syndrome: Dilemmas for further management after gonadectomy
Journal of Human Reproductive Sciences, 2019 Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic ...
Pratibha Singh +3 more
doaj +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report
Journal of Medical Case Reports, 2011 Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the ...
Silva Daniela M +2 more
doaj +1 more source
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. [PDF]
PLoS ONE, 2013 BACKGROUND: Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in ...
Nicolas Kalfa +21 more
doaj +1 more source