Delayed Puberty Flashcards
Between what ages does puberty normally start in girls?
8-14
Between what ages does puberty normally start in boys?
9-15
How long does puberty last?
About 4 years
How does puberty start in girls?
The development of breast buds, then pubic hair
When does menstruation start in girls?
2 years into the start of puberty
How does puberty start in boys?
- enlargement of the testicles, then of the penis
- Gradual darkening of the scrotum
- Development of pubic hair
- Deepening of the voice.
What is Tanner staging used for?
To determine the pubertal stage based on examination findings of sex characteristics.
What is Hypogonadism?
A lack of the sex hormones, oestrogen and testosterone, that normally rise prior to and during puberty.
What do a lack of oestrogen and testosterone lead to?
A delay in puberty
What can a lack of oestrogen and testosterone be due to?
- Hypogonadotrophic hypogonadism
* Hypergonadotrophic hypogonadism
What is Hypogonadotrophic hypogonadism?
A deficiency of LH and FSH
What is Hypergonadotrophic hypogonadism?
A lack of response to LH and FSH by the gonads
What does a deficiency of LH and FSH lead to?
A deficiency of the sex hormones testosterone and oestrogen.
What is a deficiency of FSH and LH the result of?
Abnormal functioning of the hypothalamus or pituitary gland.
What can abnormal functioning of the hypothalamus or pituitary gland be due to?
Previous damage to the hypothalamus or pituitary
Growth hormone deficiency
Hypothyroidism
Hyperprolactinaemia (high prolactin)
Chronic conditions can temporarily delay puberty
Excessive exercise or dieting
Kallman syndrome
What could have caused previous damage to the hypothalamus or pituitary?
Radiotherapy or surgery for previous cancer
Which chronic conditions can cause a temporary delay in the onset of puberty?
Cystic fibrosis
Inflammatory bowel disease
What is Kallmann’s syndrome a cause of?
A cause of delayed puberty secondary to hypogonadotropic hypogonadism
What type of inheritance does Kallmann’s syndrome have?
X-linked recessive
What is the typical presentation of someone with Kallmann’s syndrome?
A boy with delayed puberty and a lack of smell (anosmia)
What is Hypergonadotropic hypogonadism?
This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).
Why are there high levels of FSH and LH in someone with Hypergonadotropic Hypogonadism?
The anterior pituitary produces increasing amounts to try harder to stimulate the gonads.
What would you find in someone with Hypergonadotropic Hypogonadism?
High gonadotrophins (“hypergonadotrophic”) Low sex hormones (“hypogonadism”).
What are possible causes of Hypergonadotropic Hypogonadism?
- Previous damage to the gonads
- Congenital absence of the testes or ovaries
- Kleinfelter’s Syndrome (XXY)
- Turner’s Syndrome (XO)
What are possible genetic causes of Hypergonadotropic Hypogonadism?
- Kleinfelter’s Syndrome (XXY)
* Turner’s Syndrome (XO)
What previous damage to the gonads could result in Hypergonadotropic hypogonadism?
Testicular torsion
Cancer
Infections-mumps
What is the threshold for initiating investigating someone for pubertal delay?
When there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14.
What is the first step in investigating someone with pubertal delay?
Take a detailed history of their general health, development, family history, diet and lifestyle.
What results would you get from early morning serum FSH and LH (the gonadotropins)?
low in hypogonadotrophic hypogonadism
high in hypergonadotrophic hypogonadism
When would you carry out investigations for pubertal delay?
When there is some evidence of puberty but no progression over 2 years.
Why might you do an x-ray in someone with pubertal delay?
An x-ray of the wrist to assess bone age and inform a diagnosis of constitutional delay
Why might you do a pelvic ultrasound in someone presenting with pubertal delay?
Pelvic ultrasound in girls to assess the ovaries and other pelvic organs
Why might you do an MRI in someone presenting with pubertal delay?
To look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
What is the management in the majority of cases of pubertal delay?
Reassurance and observation
What medical management can be given for pubertal delay?
Replacement sex hormones (oestrogen in girls and testosterone in boys) can be used to induce puberty under expert guidance.
