Test 3: 57
Compiled By Simon Mwangi
Edition: 2024/25
, Science | Biochemistry I of V pages
1. Androgen insensitivity syndrome
(Testicular feminization) intersex
X-linked recessive condition in 46,XY karyotype
Caused by the mutation of androgen receptor
Patients body do not respond to androgens (e.g., testosterone, dehyrotestosterone)
genetically male, no internal genitalia (neither male or female inside), external female
2. AIS will have what internal genitalia?
neither, male or female
both wolffian and mullerian ducts get knocked out
3. AIS will have what external sex organs
Androgen insensitivity syndrome
female
puberty will develop breast due to aromatization of testosterone to estradiol
4. how will AIS produce breasts
aromatization of testosterone to estradiol during puberty
5. Persistent Müllerian duct syndrome (PMDS)
Autosomal recessive congenital disorder
Mutation in AMH or AMH receptor (MISRII)
Reported in Miniature Schnauzwer dog
~25% career, ~2% affected
XY with normal testis, will have both sex ducts because anti-mullerian hormone doesnt work so will have
6. PMDS will have what internal genitalia?
genetically male
anti-mullarian hormone doesnt work and mullerian duct will persist. Will also keep Wolffian duct because
both male and female internal organs
7. Freemartinism
male and female twins in cows with shared blood supply
females usually have small or no female internal organs and sometimes male internal organs due to
females will be XX/XY chimeria
8. indifferent gonad or bipotential gonad are made of what types of cells
gonadal somatic cells (intermediate mesoderm derivatives)
primordial germ cells (epiblast)
9. gonadal somatic cells and germ cells have ___ origins
different
10. gonadal somatic cells can turn into what
sertoli cells by SOX9 (male) and Granulosa FOXL2 (female)
Interstitial
Biochemistry 2024/25 Edition