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ESSAY 172 - PAEDIATRIC GYNAECOLOGY

Posted by Rani M.
Pubertal development before 8 years is considered as precocious. This can be very distressing for the girl (due to comparision with her peers) as well as for her parents. Therefore, a sensitive, non judgemental and supportive approach is required in dealing with them.

Most common cause of precocious puberty is constitutional. But it is important to rule out other causes by proper history, examination and appropiate investigations.

Systematic enquiry is made regarding sequence of events preceeding the first period. Normal puberty follows a certain pattern i.e. thelarche followed by development of pubic/ axillary hair, growth spurt and finally menarche. This may take a period of 2 years.A deviation from this sequence may raise suspicion of non constitutional cause.
Family history is taken regarding history of precocious preburty which may suggest constitutional cause, family history of congenital adrenal hyperplasia, neurofibromatosis or tuberous sclerosis as these may be a cause.
Symptoms suggestive of hypothyroidism such as cold intolerance, lethargy are asked for. Precocious puberty due to primary hypothyroidism may not be associated with height spurt.
A history of feeling of lump/ mass in abdomen, pressure symptoms on bowel and bladder are asked for , as these may suggest an ovarian or adrenal tumours which may be functioning. Ovarian tumours in this age may be granulosa cell tumour, theca cell tumour but these are rare causes.
Symptoms suggestive of virilisation such as acne , hirsutism may point toward congenital adrenal hyperplasia or virilising adrenal or ovarian tumours.
A history of exogenous intake of estrogens or unprescribed herbal medicines is taken.
Symptoms such as headache, visual disturbances may point towards intracranial lesions such as brain tumours( craniopharyngioma),an accompanying history of fever may suggest meningitis, encephalitis.All of these may cause precocious puberty.

Examination should include measurement of her height &weight to identify puberty associated growth spurt. Bone age is enhanced in constitutional causes.
Thyroid enlargement is looked for as hypothyroidism especially autoimune may be a cause .
General examination includes looking for hydrocephalus and any neurological signs .
Presence of cafe au lait spots and skeletal abnormalities suggest Mccune Albright syndrome.
Abdominal examination is done to look for any mass.Tanner staging of breast is done to assess development.
Hair distribution is seen. Any feature of hirsutism, acne are noted.
External inspection of genitalia is done after a rapport is gained. This may create anxiety and mother may be allowed to stay with her during examination if the girl consents.

Investigations should include Imaging of brain by CT scan or MRI even of there are no neurological symptoms as there can be small lesions.FSH, LH and prolactin are done as early rise in gonadotropins may be a cause and there levels will influence management( GnRh analogues to suppress gonadotropins ).
Ultrasound is done to look for adrenal or ovarian mass.
Xray of wrist is done for bone age.
Serum estradiol, testosterone and de hydro epiandrosterone sulphate are done if there is suspicion of adrenal or ovarian tumours or congenital adrenal hyperplasia.
Other investigations are done as dictated by the history & clinical examination. SUspicion of neurological cause will require liaise with pediatrician.Further investigations and management may require referral to a tertiary center.Constitutional puberty is a diagnosis of exclusion.
Posted by khalid M.
These clinical features are suggestive of precocious puberty. Maternal and child anxiety will be very high so a symapthetic attitude and uninterrupted counselling is essential.
A complete history is required noting the sequence of events, previous history of infections encephalitis,meningitis.Family history of precocious puberty, drug history like inadvertent intake of exogenous hormones. Other causes include Mc Cune Albright syndrome, juvenile hypothyroidism, tumors of ovary- granulosa cell tumor, adrenal causes like congenital adrenal hyperplasia and tumors.
A complete general physical examination should be undertaken in the presence of mother and chapeone noting development of secondary sexual characters. Coarse skin and hairs with lethergy are suggestive of hypothyroidism. Cafe au Lait skin lesions are suggestive of Albright syndrome. However in most of the cases examination is normal. insecption of extenal genetalia is advisable but bimanual examination either vaginal or rectal is not recommended.
Iniial investigations include thyroid function tests, gonadotrophins levels.Xrays examination for skeletal dysplasias, ultrasound , CT or MRI examination for ovarian and adrenal tumors is required.
Treatment depends on the underlying cause. Central precocious puberty is the most common diagnosis, which can be treated with GnRH analogues or cyproterone accetate. Mc Cune Albright syndrome is treated in the same way.Ovarian or adrenal tumors should be surgically removed.
Mother should be warened against the risk of early sexual activity and pregnancy. Follow up should be arranged at regular intervals. Information leaflets and contacts of support groups should be given. Documentation is essential.
Posted by hassan M.
Most likely diagnosis in this case is precocious puberty .It is defined as presence of puberty before the age of 8 years in girls. This may be a very distressing and embarrassing situation for child among her peers and difficult to cope up .Our approach should be understanding as well as supportive to both mother and daughter.

Majority of precocious puberty are due to constitutional causes, but it is a diagnosis of exclusion and all other serious causes have to be ruled out before reaching a final diagnosis.

Detailed history needs to be taken from the mother about the onset of menarche for her and any other daughters. History of fracture of the base of the skull, history of encephalitis, history of intolerance to cold, palpitations, may indicate toward hypothyroidism. History of headaches, visual field disturbances give us an indication of pituitary tumours, that is hamrtomas or craniophrangiomas.

Detailed examination including height, weight, skin (for Caf? Au Lait spots), visual field, and thyroid enlargement is done. Abdomen is palpated to exclude presence of any mass. External genitalia are inspected. No vaginal or speculum examination is needed at this age. Blood investigations are done which include thyroid-stimulating hormone, T3 and T4, which may be altered in case of hypothyroidism. Adrenal tumours and congenital adrenal hyperplasia can be excluded by measuring DHEAS and 17alpha-hydrooxyprogesterone. Radiological imaging, including pelviabdominal ultrasound scan, should be done to exclude masses of adrenal or ovarian origin. X-ray skull should be done to exclude brain and pituitary tumours. X-ray wrist should be done to determine bone age.

All these investigations will give us a clue about the most probable cause. Normal puberty takes two years to complete but though the mother has noticed this suddenly, it doesn?t mean that the onset is sudden. If no cause is found, patient should be considered as constitutional precocious puberty and will need long-term psychological support till she comes to terms with the condition. Parents should be told that the ultimate height of the girl will be short due to premature closure of the epiphphyses. She should be referred to a tertiary centre with specialists in adolescent gynaecology if any other cause is detected.