Development - Delayed Puberty

Question 1

When does puberty begin?

Answer 1

Girls
8-14

Boys
9-15

Girls have pubertal growth spurt first

Question 2

How long does puberty take roughly?

Answer 2

4 years

Question 3

How does puberty start?

Answer 3

Girls
1. Development of breast bud
2. Pubic hair
3. Menstrual periods

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

2 years

Question 5

What is used to determine pubertal stage?

Answer 5

Tanner scale

Question 6

What is hypogonadism?

Answer 6

Lack of sex hormones, oestrogen and testosterone leading to pubertal delay

Question 7

What causes hypogonadism?

Answer 7

Hypogonadotrophic hypogonadism
Deficiency of LH and FSH

Hypergonadotrophic hypogonadism
Lack of response to LH and FSH by gonads

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

Abnormal functioning hypothalamus or pituitary gland due to
- Previous damage e.g. surgery or radiotherapy
- GH deficiency
- Hypothyroidism
- Hyperprolactinaemia
- Serious chronic conditions e.g. CF and IBD
- Excessive exercise or dieting
- Constitutional delay
- Kallman syndrome

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 :
- Previous damage e.g. torsion, cancer, infections like mumps
- Congenital absence of testes or ovaries
- Kleinfelter’s Syndrome (XXY)
- Turner’s syndrome

Question 13

When are investigations used for delayed puberty?

Answer 13

No evidence of pubertal changes in a girl aged 13 or boy aged 14

Question 14

When are investigations used for delayed puberty?

Answer 14

No evidence of pubertal changes in a girl aged 13 or boy aged 14

No progression of puberty for over 2 years

Question 15

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

Answer 15

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 16

What investigations are used for delayed puberty?

Answer 16

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 17

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

Answer 17

Olfactory bulbs for Kallman syndrome

Question 18

How is genetic testing done for delayed puberty?

Answer 18

Microarray test

Question 19

How is delayed puberty managed?

Answer 19

Treat underlying condition

Constitutional delay may only need reassurance

Question 20

What can be used to induced puberty?

Answer 20

Replacement sex hormones