Delayed Puberty ✅ Flashcards
What is delayed puberty defined as in girls?
Lack of evidence of any breast development in girls by the age of 13 years
What is delayed puberty defined as in boys?
Failure of testicular enlargement to at least 4ml in boys by the age of 14 years
What should be included in the history of a child with delayed puberty?
- Details of previous growth pattern
- Symptoms or presence of other chronic disease, including details of medications
- Features suggestive of gonadal impairment
- Presence of symptoms suggestive of hypopituitarism
- Impaired sense of smell
- Family history of delayed puberty
What features on history might suggest gonadal impairment?
- Cryptorchidism
- Need for orchidopexy
- Gonadal irradiation
What symptoms might suggest hypopituitarism?
- Headache
- Visual disturbance
- Significant neonatal hypoglycaemia
- Prolonged jaundice
What might an impaired sense of smell alongside delayed puberty suggest?
Kallmann’s syndrome
What produces the impaired sense of smell in Kallmann’s syndrome?
A defect in olfactory nerve development
What should be included when taking a family history in delayed puberty?
Timing of maternal menarche
What should be noted on examination in a child with delayed puberty?
- Height
- Weight
- Tanner stages
- Testicular volumes
- Dysmorphic signs
- Signs suggestive of an underlying disorder
- Signs of raised ICP
What should a measurement of height be compared with when assessing delayed puberty>
The target height range based on parental height
What syndromes associated with delayed puberty might have dysmorphic signs?
- Turner’s syndrome
- Klinefelter’s syndrome
Give 3 signs that may be suggestive of an underlying disorder in delayed puberty?
- Clubbing
- Hypertension
- Harrison’s sulci
What features on examination might suggest congenital hypopituitarism?
- Midline defects of the craniofacial skeleton
- Presence of optic atrophy
What examinations to identify signs of raised ICP should be done in delayed puberty?
- Fundoscopy
- Visual field examinations
What investigations should be considered in a child with delayed puberty?
- Left wrist XR
- Pelvic ultrasound
- Relevant tests of any system thought to be a cause of chronic disease impacting on the timing of puberty
- Karyotyping
- Basal blood sample
- Testicular function testing
What is the purpose of left wrist XR in delayed puberty?
Guide to the extent of physiological delay
How is bone age calculated from a left wrist XR?
Tanner-Whitehouse methodology
What information can be obtained from a pelvic USS that may be useful in delayed puberty?
- Size of uterus
- Extent of endometrial response
- Size of ovaries
- Presence of ovarian follicles
Why might karyotyping be done in delayed puberty?
To exclude Turner’s syndrome or Klinefelter’s syndrome
What should be measured in the basal blood sample in delayed puberty?
- LH
- FSH
- Testosterone (boys)
- Oestradiol (girls)
What do elevated basal gonadotrophins suggest in delayed puberty?
Primary gonadal failure
What is the limitation of a finding of low basal gonadotrophins in delayed puberty?
They do not reliably distinguish constitutionally delayed puberty from hypogonadotrophic hypogonadism
What is required to distinguish constitutionally delayed puberty from hypogonadotrophic hypogonadism?
LHRH stimulation test
How can testicular function be assessed?
By measurement of testosterone response to HCG
What is required when assessing testicular function by measuring testosterone response to HCG?
A specialist opinion
Why is a specialist opinion required when measuring testosterone response to HCG?
For the different protocols for dynamic tests of pituitary gonadal function
What can causes of delayed puberty be subdivided into?
- Central
- Peripheral
What is centrally delayed puberty mediated by>?
What is centrally delayed puberty mediated by?
Abnormalities of hypothalamo-pituitary function
What is peripheral delayed puberty mediated by?
Defects in gonadal function
What is the most common cause of delayed puberty?
Most commonly no underlying abnormality and cause is unknown
What is the characteristic delayed puberty with no underlying abnormality?
Slowing in height velocity in the years leading up to the delayed onset of puberty
What history feature is common in delayed puberty with no underlying abnormality?
A family history of a similarly affected parent
What is found on history and examination in delayed puberty with no underlying abnormality?
Nothing (apart from delayed physical development)
What is the management for delayed puberty with no underlying abnormality?
Counselling that puberty will develop normally if given more time
If wanted, puberty can be induced
When can puberty be induced in patients with delayed puberty with no underlying abnormality?
13-14 years
How can puberty be induced in delayed puberty with no underlying abnormality?
Using low =rose testosterone or oestrogen
How long is low-dose testosterone/oestrogen given to induce puberty?
6-12 months
Why is low-dose testosterone/oestrogen given for 6-12 months when inducing puberty?
To prime the hypothalamo-pituitary axis
Chronic diseases with what features are particuarly associated with delayed puberty?
- Chronic inflmamation
- Negative energy balance due to impaired food intake or absorption
Why are chronic diseases causing chronic inflammation or negative energy balance particuarly associated with delayed puberty?
Probably mediated through effects of the disease on the hypothalamic function
How is delayed puberty caused by chronic disease treated?
- Correct of underlying defect
- Sometimes, additional low-dose testosterone or oestrogen
How long can low-dose testosterone or oestrogen be used for in delayed puberty caused by chronic disease?
6-12 months
What is the purpose of low dose testosterone or oestrogen in delayed puberty caused by chronic disease?
Accelerate the onset of puberty
What are the identifiable causes of centrally delayed puberty?
Rearrange
- Chronic disease
- Hypogonadotrophic hypogonadism
How can hypogonadotrophic hypogonadism cause centrally delayed puberty?
Through impaired hypothalamo-pituitary function
What are the causes of hypogonadotrophic hypogonadism?
- Local tumours
- Congentiail defects in pituitary development
Give a local tumour that can cause hypogonadotrophic hypogonadism
Craniopharyngioma
Give a congential defect in pituitary development
Kallman’s syndrome
What are congenital defects in pituitary development caused by?
Mutations in a range of genes that encode proteins involved in the development, migration, or activity of GnRH-releasing neurons
What other symptom is frequently associated with hypogonadotrophic hypogonadism?
Anosmia
Why is anosmia frequently associated with hypogonadoptrophic hypogonadism?
Some of the genes that are mutated causing pituitary defects also regulate the migration of olfacotry neurones from the olfacotry bulbs to the hypothalamus
What does treatment of delayed puberty caused by hypogonadotrophic hypogonadism require?
Testosterone or oestrogen replacement at steadily increasing doses over 2-3 years to full adult replacement
When can primary hypogonadism occur in boys?
- Failure of tests to descend normally
- Bilateral torsion
- Damage to testes by radiotherapy or surgery
- In association with Klinefelter’s syndrome
How is primary hypogonadism treated when associated with failure of puberty and virilisation in boys?
Induction with low-dose testosterone, steadily increased over 3 year period to adult replacement doses
When can primary hypogonadism occur in girls?
- After radiotherapy
- In association with Turner’s syndrome
How is primary hypodonadism causing pubertal delay treated in girls?
Administration of oestrogen starting with a low dose and steadily increasing over 3 year period to adult replacement dose
