Delayed Puberty

Question 1

What is delayed puberty?

Answer 1

The complete absence of physical signs of puberty after 13 in girls and after 14 in boys

Question 2

What is the difference between a gonadal failure and a central failure?

Answer 2

A central failure is a failure with the hypothalamus or the pituatry gland.

A gonadal failure is a failure with the gonads themselves

Question 3

What hormone profile would you see in a central failure?

Answer 3

Low FSH/LH

Low oestrogen/Testosterone

Question 4

What hormone profile would you see in a gonadal?

Answer 4

High FSH/LH

Low oestrogen or testosterone

Question 5

What are examples of central failure?

Answer 5

• Kallmans
• Anorexia
• depression
• meningitis
• tumour
• Inflammatory disease
• Hypothyroid

Question 6

What are examples of gonadal failure?

Answer 6

Chemo/radiation

cryptoprchidism

Turners 45X

Klinefelters 47XXY

Androgen resistance

Question 7

What is the most common cause of delayed puberty?

Answer 7

Their mum or dad was delayed

Question 8

What happens in end organ resistance to the sex hormones (X-linked recessive)

Answer 8

• 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

Question 9

What investigations would you want to do on someone with delayed puberty?

Answer 9

• FSH/LH
• Oestrogen/Testosterone
• Karyotype
• US
• MRI head
• Bone profile