Puberty Flashcards
What are the 3 types of “sex”
Genetic- XX or XY
Gonadal- do you have testes or ovaries
Phenotypic- do you have a penis or labia
What part of the Y chromosome turns you into a boy
The SRY (Sex-determing Region of the Y). It makes TDF (Testis Determining Factor) which promotes testis differentiation
How many X chromosomes are necessary for ovarian development/
Two
What causes the undifferentiated gonads to developinto ovaries
The absence of TDF
What are the two ducts that undifferentiated reproductive organs have?
Wolffian ducts- become male reproductive tract (epididymis, vas deferens, etc)
Müllerian ducts- become female reproductive tract (Fallopian tubes, uterus)
What causes the Müllerian ducts to degenerate in a baby boy
Anti-mullerian hormone***
What causes the wolffian ducts to degenerate in a baby girl?
Absence of testosterone**
What enzyme converts Testosterone to Dihydrotestosterone (DHT)?
5-α-reductase**
What does DHT do for a developing baby boy
Promotes the development of EXTERNAL genitalia (penis, scrotum)
What causes the Müllerian ducts to develop into Fallopian tubes and a uterus in a baby girl?
The absence of anti-mullerian hormone.
What causes the development of female EXTERNAL genitalia (labia, clitoris)
Absence of testosterone
What are the 3 cell types in testes
Germ cells (spermatogonia)
Sertoli cells (produce anti-mullerian hormone)
Leydig cells (produce testosterone)
What are the 3 cell types in ovaries?
Germ cells (oogonia)
Granulosa cells (produce estradiol)
Theca cells (produce androgens and progesterone)
Can you look at a 5 week old fetus and tell what gender it is?
No, testes develop in week 6 and ovaries develop in week 9
What hormones are needed to cause the development of the female gonads, the reproductive tract, and the eternal genitalia
NONE AT ALL!!!***
What part of the vagina comes from the Müllerian ducts vs the “external” part
Upper 1/3 comes form Müllerian ducts
Lower 2/3 is the “external” genitalia
What will happen if a developing baby girl is exposed to high levels of androgens in utero?
External genitalia will differentiate into a male-like phenotype!***
What is Congenital Adrenal Hyperplasia aka 21-hydroxylase deficiency aka Virilixed X syndrome?
No 21-hydroxylase enzyme
No aldosterone or cortisol
Excessive ACTH results in the adrenal cortex eating huge and making excessive androgens
Individuals are XX with ovaries and female internal genitalia
Female external genitalia develop but VIRILIZE= clitoris grows to look like a penis, and labial folds appear to be an empty scrotum
Life threatening adrenal insufficiency
What is the most common cause of genital ambiguity
Congenital adrenal hyperplasia/21-hydroxylase deficiency
What do people with congenital adrenal hyperplasia/21-hydroxylase deficiency look like
XX with ovaries, uterus, Fallopian tubes and top 1/3 of vagina
External genitalia is female, but viralized. Big clitoris, labia looks like scrotum
Acne
Hirsutism 🧔🏻
What happens if an XY person lacked the SRY gene?
No gonads
Develops as female
What happens if an XX person gets a translocation of the SRY gene
Testes
Develops as male
What happens if an XY person has defective AMH production or action
Testes
Male and female internal genitalia (wolffian and Müllerian ducts develop)
Male external genitalia
What happens if someone is XY with no testosterone production/action?
Testes
No internal genitalia
Female external genitalia
What would happen in 5α-reductase deficiency?
Testes
Male internal genitalia
Female external genitalia
(Male pseudohermaphroditism)
testosterone not converted into DHT
*******she really talked about this one a lot
What laboratory findings would you see with Complete Androgen Insensitivity Syndrome? Testosterone DHT FSH and Inhibin LH AMH XX or XY? Ultrasound: Genetic skin fibroblast biopsy
Testosterone: high
DHT: normal
FSH and Inhibin: normal
LH: high
AMH: high (must mean there are testes..)
XX or XY? XY
Ultrasound: no ovaries/uterus. Male testes
Genetic skin fibroblast biopsy: absence of binding affinity of testosterone to androgen receptors
External appearance is normal female
What causes peopel with Complete Androgen Insensitivy syndrome to have NO internal genitalia?
They have testes that secrete AMH and testosterone (but the testosterone is not doing anything to support the Wolffian ducts)
Both wolffian and Müllerian ducts regress
Female external genitalia develop, but have a blind ended vagina, and testes
Is complete Androgen insensitivity syndrome comepletely black and white?
No there are variants. May be mild, partial or complete
What is the treatment for Complete Androgen Insensitivity Syndrome?
Gonadectomy
Estrogen replacement therapy
In older ages, FSH and LH are both increased at higher levels than any other time in life. Which one is always higher?
FSH is always higher than LH