Endocrinology Flashcards
What age is growth hormone licensed from in the UK?
4 years
Which hormones are produced in a sleep-related fashion?
Growth Hormone
Prolactin
Which hormones are produced in a continuous manner?
Thyroxine
Which hormones are produced in a stress-related manner?
ACTH
Which hormones are produced in a circadian fashion?
Cortisol
What is Mc-Cune Albright syndrome a triad of?
Polyostotic fibrous dysplasia (presents as fractures)
Cafe-au-lait spots
Precocious puberty
What is the mechanism of hyperandrogegism in PCOS?
It is thought that excess LH production stimulates ovarian androgen production and that hyperinsulinaemia up regulates 17-alpha-hydroxylase activity which synthesises androgen precursors
What is the hormone profile in PCOS?
Raised FSH and LH
Raised testosterone/ DHEAS
Low sex hormone binding globulin levels
What are the features of androgen insensitivity syndrome?
Defect in androgen receptor gene
Karyotype - XY
Phenotype - female external genitalia
Mullerian structures - Absent
Breast development due to elevated testosterone which is converted to oestrogen
What are the features of SWYER syndrome?
SRY gene mutation causing absent mullein inhibiting substance (therefore mullein structures are present internally) and low testosterone (therefore streak gonads are formed)
What are the features of persistent mullerian duct syndrome?
Characterised by no MIS function aka persistent mullerian ducts
XY normal male phenotype
Mullerian structures found incidentally
Inguinal hernia and undescended testes
What are the features of 5-alpha-reductase deficiency?
5-alpha-reductase is required for the production of dihydrotestosterone
XY female phenotype at birth
Develop sexual hair and an enlarged penis
No internal mullerian structures
Testes in inguinal canal
What is the investigation of choice for diagnosis of Addisons Disease?
Short SynACTHen test
What is the most common form of CAH?
21-hydroxylase deficiency
What test is used to diagnose the most common form of CAH (21-hydroxylase deficiency)?
17-hydroxyprogesterone
17-OHP is a precursor to 11-deoxycortisol and is elevated