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Androgen Insensitivity Syndrome: A Comprehensive Overview, Slides of Medicine

A comprehensive overview of androgen insensitivity syndrome (ais), a genetic disorder affecting male hormone physiology. It delves into the causes, types, clinical features, investigations, differential diagnosis, and management of ais. How mutations in the androgen receptor gene lead to resistance to testosterone, resulting in female external genitalia despite a male genotype. It also discusses the different types of ais, including complete, partial, and mild insensitivity, and their associated clinical manifestations. The document further outlines the diagnostic procedures, including chromosomal analysis, hormone testing, and imaging studies, as well as the medical and surgical management options for ais.

Typology: Slides

2022/2023

Available from 12/26/2024

trisha-kesavan
trisha-kesavan 🇮🇳

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ANDROGEN INSENSITIVITY
SYNDROME
BY TKSTUDYBUD
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ANDROGEN INSENSITIVITY

SYNDROME

BY TKSTUDYBUD

ANDROGEN INSENSITIVITY SYNDROME 

It is an X linked recessive disorder with mutation in androgen receptorgene.

It may lead to a female appearance in genetic males (XY).

These individuals have a male (XY) genotype, testes, and female orambiguous external genitalia. This is caused by abnormalities in someaspect of male hormone physiology in the fetus.

In this disorder, the genes that produce androgen receptors havemutations, and the resulting androgen receptors are resistant totestosterone. So the fetal tissues fail to respond to testosteroneeven though it’s produced in sufficient amounts in the fetal testes.

The lack of testosterone effect leads to the development ofundifferentiated external genitalia into female structures.

TYPES OF ANDROGEN INSENSITIVITYSYNDROME 

CAIS (completely insensitive to AR gene) EXTERNAL FEMALE GENITALIALACK FEMALE INTERNAL ORGANS ( SERTOLI CELL MARKERS ANTI MULLERIANHORMONE AND INHIBIN B PRESENT) 

PAIS ( partially sensitive- varying degrees) EXTERNAL GENITALIA APPEARANCE ON SPECTRUM ( PHENOTYPIC WOMEN WITHMILD VIRILIZATION TO PHENOTYPIC MEN WITH UNDERVIRILIZATION ANDGYNECOMASTIA OR INFERTILITY) 

MAIS (mildly sensitive) IMPAIRED SPERM DEVELOPMENT OR IMPAIRED MASCULINIZATION

CLINICAL FEATURES

TESTES IN LABIA OR INGUINAL CANAL ORINTRA ABDOMINAL

MALDEVELOPED TESTES

FEMININE AND TALL STATURE

EXTERNAL GENITALIA RESEMBLES FEMALE

BREAST DEVELOPMENT NORMAL

NIPPLES- SMALL WITH PALEE AREOLA

PUBIC AND AXILLARY HAIR- SCANTY ORABSENT

PRIMARY AMENORRHEA

INFERTILITY

VAGINA SHORT AND BLIND

DIFFERENTIAL DIAGNOSIS 

MULLERIAN AGENESIS

PARTIAL GONADAL DYSGENESIS

DEFECTS IN TESTOSTERONE SYNTHESIS

17 BETA HYDROXY STEROID DEHYDROGENASE DEFICIENCY

5 ALPHA REDUCTASE DEFICIENCY

MANAGEMENT- MEDICAL 

HRT- CAIS

ESTROGEN REPLACEMENT 

HRT- PAIS

MALES- TESTOSTERONE OR DHTFEMALES- ESTROGEN 

PSYCHOLOGICAL CARE, COUNSELING