Development - Delayed Puberty

Question 1

When does puberty begin?

Answer 1

Girls: 8–13 years
Boys: 9–14 years

Girls have pubertal growth spurt first

Question 2

How long does puberty take roughly?

Answer 2

Usually 2–5 years

Question 3

How does puberty start?

Answer 3

Girls
1. Breast development (thelarche)
2. Pubic hair development
3. Menarche

Boys
1. Testicle enlargement
2. Penis enlargement
3. Darkening of scrotum
4. Pubic hair
5. Deepening of voice

Question 4

How long after starting puberty do menstrual periods start?

Answer 4

Typically 2–3 years after onset of puberty (after thelarche)

Question 5

What is used to determine pubertal stage?

Answer 5

Tanner scale

Question 6

What is hypogonadism?

Answer 6

Deficiency of sex hormone production resulting in delayed or absent puberty

Question 7

What causes hypogonadism?

Answer 7

Hypogonadotrophic hypogonadism – low LH and FSH

Hypergonadotrophic hypogonadism – gonadal failure with high LH and FSH

Question 8

What is hypogoandotrophic hypogonadism?

Answer 8

Deficiency of LH and FSH causing deficiency of testosterone and oestrogen

As there is no gonadtrophins (LH and FSH) stimulating the gonads, no production of sex hormones

Question 9

What causes a deficiency of LH and FSH?

Answer 9

Hypothalamic or pituitary dysfunction due to:

• Congenital causes (e.g. Kallmann syndrome)
• Chronic illness (e.g. CF, IBD)
• Hypothyroidism
• Hyperprolactinaemia
• Excessive exercise or undernutrition
• Constitutional delay of growth and puberty

(GH deficiency ≠ cause of low LH/FSH)

Question 10

What is Kallman syndrome?

Answer 10

Genetic condition causing hypogonadotrophic hypogonadism

Associated with anosmia

Question 11

What is hypergonadotrophic hypogonadism?

Answer 11

Gonads don’t respond to gonadotrophins (LH and FSH)

No negative feedback from sex hormones

Anterior pituitary produces more LH and FSH causing high gonadotrophins and low sex hormones

Question 12

What causes hypergonadotrophic hypogonadism?

Answer 12

Abnormal functioning of gonads :
- Gonadal damage (e.g. torsion, chemotherapy, mumps orchitis)
- Congenital absence or dysgenesis of gonads
- Klinefelter syndrome (XXY)
- Turner syndrome

Question 13

When are investigations used for delayed puberty?

Answer 13

No pubertal signs in:
* Girls by age 13
* Boys by age 14

Question 14

Before using any investigations what must be done in a case of delayed puberty?

Answer 14

Detailed history of
- General health
- Development
- Family history
- Diet and lifestyle

Examination to assess
- Height
- Weight
- Stage of pubertal development
- Features of underlying conditions

Question 15

What investigations are used for delayed puberty?

Answer 15

Initial investigations for underlying medical conditions
- FBC and ferritin - anaemia
- U&Es - CKD
- Anti-TTg or anti-EMA - Coeliacs

Hormonal blood tests for hormonal abnormalities
- Early morning serum FSH and LH - hypo/ergonadotrophic hypogonadism
- TFTs
- IGF for GH deficiency
- Serum PRL

Genetic testing - Underlying genetic conditions
- Kleinfelter’s syndrome
- Turner’s syndrome

Imaging
- Wrist Xray - constitutional delay
- Pelvic USS - assess ovaries and other pelvic organs
- Brain MRI - pituitary pathology

Question 16

What else can a brain MRI be used to look for?

Answer 16

Olfactory bulbs for Kallman syndrome

Question 17

How is genetic testing done for delayed puberty?

Answer 17

Microarray test

Question 18

How is delayed puberty managed?

Answer 18

Treat underlying condition

Constitutional delay may only need reassurance

Question 19

What can be used to induced puberty?

Answer 19

Replacement sex hormones