Delayed Puberty Flashcards
If one X chromosome is missing, what would you get?
Turner’s syndrome
Would a child with Turner’s have ovaries or testes?
Ovaries as no Y chromosome. Though there is no full maturation.
What does male internal genitalia develop from?
Wolffian/mesonephric ducts
What does female internal genitalia develop from?
Mullerian/paramesonephric ducts
What cells are involved in secretions which lead to male internal genitalia?
Leydig → testosterone → development of male internal genitalia
Sertoli → antimullerian hormones → regression of Mullerian/paramesonephric ducts in males
What hormone is responsible for the migration of the testis to the scrotal position?
Testosterone
What is thelarche?
Isolated development of breast buds (Tanner stage 2). No other features of sexual precocity, no growth spurt. No skeletal maturity.
What are the dominant hormones involved in puberty?
DHEA, DHEAS
What is the hormone essential for the development of the male external genitalia for puberty?
Testosterone and DHT
What is galactorrhoea?
Milk secretion from the breasts, not due to breast feeding.
How would Androgen Insensitivity Syndrome present?
Phenotypic female, with XY
Testosterone not used
Pulsatile GnRH → oestrogen → female characteristics
No menarche
No uterus and ovaries because sertoli cells can secrete anti-mullerian hormone.
What is the genetic inheritance profile of Androgen Insensitivity Syndrome?
X-linked (partly) recessive/ Male-limited autosomal dominant
If mother carrier:
Male child → 50%
Female child → 50% carrier
What is the female definition of delayed puberty?
Absence of breast development by 13.5 years
Or absence of menstruation 3 years after breast development
What is the male definition of delayed puberty?
Failure of testicular growth >4mls by age 14
What is the commonest cause of delayed puberty in boys?
Constitutional delay
Genes/Idiopathic
