Precocious and Delayed Puberty Flashcards
Define precocious puberty
Breast and pubic hair development before age 8
Menarche before age 9
Outline the history you would obtain
NAE
PC
- Order of growth/pubertal features
o Height
o Adrenarche
o Thelarche
o Menarche
o Skin e.g. acne
- Pain
- Neuro – headaches, visual changes
- Vulval itch/discharge (e.g. vulvovaginitis)
Cycle – amount of bleeding, timing
Sex - ? sexually active, HEADDSS assessment (consider seeing without parent to elicit history of sexual abuse)
S
U
Obs – GP ABC
M
M
MSPF
- History of trauma
- Family history of MAS, NF, ? early menarche
- ?? antenatal course/birth
Meds/allergies - ? hormonal medications in house
ODASSS
- HEADDSS – who does she live with, any history of abuse
DCP
Ds - discharge
ROS – bladder/bowel function
Examination
General
BMI
Vitals
Urine - betaHCG
STBC/R
- Café au lait spots (NF if 6 or more, normal people can have 1-3)
- McCune-Albright also has Café au lait
Abdo - ? mass (e.g. ovarian, adrenal)
Nodes
Speculum – swabs, if suspect foreign body then likely perform EUA under GA
Bimanual exam
Androgen – acne, hair growth etc
Tanner staging
Neuro – visual fields
Risks/DDx (i.e. differential for early adrenarche/thelarche/menarche)
- Pregnancy
- Sexual abuse
- Foreign body (bleeding, discharge)
- Vulvovaginitis
- Precocious puberty:
- True precocious puberty - see image attached
- Central - NF, brain tumours
- Peripheral - adrenal tumour, ovarian tumour
- Exogenous - ingestion of hormonal preparations
- Genetic – e.g. McCune Albright, Neurofibromatosis (Café-au-lait spots with both)
List the differential diagnoses for precocious puberty
Central/gonadotrophin dependent:
- Idiopathic
- Brain tumours or CNS malformations
Peripheral/gonadotrophin independent:
- Ovarian: granulosa cell tumour, functional ovarian cysts
- Adrenal: oestrogen secreting utmour; CAH
- McCune-Albright syndrome
- Exogenous administration of oestrogen or androgen
Other:
- Hypothyroidism: FSH and TSH cross reactivity.
Investigations
- Swabs – vulval/vaginal
- Urine
- pregnancy test, MSU
- Bloods
- bHCG
- LH (best test for central PP – will be increased)/FSH/oestradio
- TSH
- Testosterone/DHEA (indicates adrenal cause)/androstenedione (indicates ovarian cause)
- 17-OH progesterone (CAH)
- Imaging
- Bone age – XR of hand - ? precocious puberty if bone age advanced by 2 years or more
- MRI brain
- USS pelvis (ovarian tumour)
- Add tumour markers if ovarian tumour confirmed (including inhibin)
- CT abdo-pelvis
- Adrenal tumour
Mx of central precocious puberty (high LH and pubertal-level oestradiol)
Mx of central PP:
Discuss – recommend head MRI, treat cause if found (the younger the child, greater the chance of finding brain tumour. 2% chance of finding it age 6-8yo girls)
Feferral to paediatric endocrinologist
Cessation of process is possible with GnRH agonists
- ? consider if bone age >1year more advanced than age
- Also depends on how family and child is coping with changes and what predicted height will be
Support/counselling for girl/family
3 monthly review
No need for USS if confirmed as central (i.e. high LH and oestradiol) - if peripheral suspected then need to determine whether ovarian or adrenal.
Who should be treated and why?
Who should be treated and why?
- Prevent loss of heigh potential/short stature.
- Delay development of secondary sexual characteristics / prevent associated psychological distress
List the differential diagnoses for delayed puberty
Hypogonadotrophic hypogonadism:
- Constitutional (familial)
- Functional: anorexia, excessive exercise, stress.
- Chronic illness
- Kallman’s syndrome
- CNS abnormalities: tumour, hydrocephalus, pituitary tumours, panhypopituitarism.
Hypergonadotrophic hypogonadism:
- Gonadal dysgenesis: Turner syndrome (45 X0), Swyer syndrome (46 XY)
- Premature ovarian insufficiency
- Chemo- or radiotherapy
- Galactosaemia
- Autoimmune
- Infections
