testicular feminization syndrome/ Androgen insensitivity syndrome

Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects sexual development in individuals with an XY chromosome pattern, typically associated with males. This syndrome arises due to mutations in the androgen receptor gene located on the X chromosome, which leads to a failure of the body's cells to respond to androgens, the hormones responsible for male sexual development.

1. Testicular feminization syndrome V KEERTHI I MSc BT

2. Introduction Androgen Insensitivity Syndrome (AIS) is a genetic disorder affecting the action of androgens in a genetically male fetus with 44+XY chromosomes. An inherited X linked recessive disease with a mutation in the Androgen Receptor (AR) gene, resulting in Functioning Y chromosome Abnormality in X chromosome

3. 3 Androgen Receptor Mutation Over 400 mutation Have been reported 30% of the time, the mutation is spontaneous AR gene is present in Xq11 region Mutation include complete or partial Gene deletion, point mutation and small insertion or deletion.

4. 4 During embryonic life, both male and female genital structures are undifferentiated; in a genetically male fetus , the Sry gene on the Y chromosome triggers testes development, secreting anti- Mullerian hormone and testosterone. Testosterone gets converted to dihydrotestosterone , responsible for developing male internal and external genitalia. Normal condition

5. Complete Androgen Insensitivity Syndrome (CAIS): Individuals with CAIS have a complete lack of response to androgens. They typically have a female appearance, with normal female external genitalia, but possess male internal reproductive organs. Partial Androgen Insensitivity Syndrome (PAIS): In PAIS, there is a partial response to androgens. This results in a range of phenotypes, varying from predominantly female to predominantly male, both in external and internal genitalia. The degree of androgen insensitivity can vary widely among affected individuals. Mild Androgen Insensitivity Syndrome (MAIS): MAIS is the least severe form, where individuals may have a normal male appearance and function but may exhibit subtle signs of androgen resistance. It’s often diagnosed later in life, such as during infertility investigations. 5 Major types

6. Symptoms Absence of extra genital abnormalities
Two nondysplastic testes
Absent or rudimentary müllerian structures (i.e., fallopian tubes, uterus, and cervix) and the presence of a short vagina Undermasculinization of the external genitalia at birth
Impaired spermatogenesis and/or somatic virilisation (some degree of impaired virilization at puberty) Infertile Little to no pubic or armpit hair No menstrual cycle 6

7. 7 Diagnosis Pelvic Ultrasound amniocentesis Blood test Genetic test Histological examination on testis Treatment Hormone therapy Undescended testicles will be surgically removed Corrective surgery to match gender identity psychological counseling

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