What is delayed puberty?
The complete absence of physical signs of puberty after 13 in girls and after 14 in boys
What is the difference between a gonadal failure and a central failure?
A central failure is a failure with the hypothalamus or the pituatry gland.
A gonadal failure is a failure with the gonads themselves
What hormone profile would you see in a central failure?
Low FSH/LH
Low oestrogen/Testosterone
What hormone profile would you see in a gonadal?
High FSH/LH
Low oestrogen or testosterone
What are examples of central failure?
- Kallmans
- Anorexia
- depression
- meningitis
- tumour
- Inflammatory disease
- Hypothyroid
What are examples of gonadal failure?
Chemo/radiation
cryptoprchidism
Turners 45X
Klinefelters 47XXY
Androgen resistance
What is the most common cause of delayed puberty?
Their mum or dad was delayed
What happens in end organ resistance to the sex hormones (X-linked recessive)
- This is where sex hormones are present but the organs don’t respond to them
- eg Phenotypically female but they may be genetically male (XY) - They may have amenorhea buy hair and odor etc (adrenal) in the absence of pathology.
- US may reveal no uterus or ovaries
- The SRY gene stopped the development of the paramesonephric ducts so they aren’t plumbed in like a female but they are also resistant to testosterone so they don’t develop like a male
What investigations would you want to do on someone with delayed puberty?
- FSH/LH
- Oestrogen/Testosterone
- Karyotype
- US
- MRI head
- Bone profile
