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MRCOG PART 2 SBAs and EMQs

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primary amenorrhoea

primary amenorrhoea Posted by Sunitha P.


A 17-year-old girl presents with amenorrhea. How would you reach a diagnosis?

I would deal the anxiety of the girl and her family members with an empathetic approach. A detailed history regarding any acute stressful events, loss of weight, an altered body image leading to induce vomiting is enquired. Any history of cyclical abdominal pain bloating sensation, galactorrhoea, visual field defects, cold intolerance, any drug intake, explosive to chemotherapy or radiotherapy any similar problem in the family is noted.
On examination the height and the weight is noted. Any visual field defects, thyroid enslavement is observed. Breast development axillary pubic hair development according to Janner\'s stage is written. Any abdominal mass suggestive of haematocolpos or tumors. Local examination for any clitoral enlargement or features of and rogenization noted. She is also offered a per rectal examination to note the presence of any mass.

The noninvasive ultrasound gives the presence for absence of uterus ovaries and other adnexal mass or anomalies of the renal tract. She is then recommended to do a serum hormonal among of FSH, LH, Testosterone, IT & hydroxyprogesterone, ISH, and prolactin. If she presents with normal internal anatomy with no secondary sexual characters with elevated serum FSH and LH, probably she may be having a genetic abnormality suggestive of Turners with 46 x 0. Offer karyotypying or she may be suffering from premature ovarian failure.

If her FSH is low or normal it is a rare condition associated 17-x hydroxylase deficiency with increased hydroxyprogesterone levels.

If she has normal secondary sexual characters with absent uterus, a repeat scan is done to look for any adnexal mass. A gonadectomy done if present. This could be androgen in sensitivity syndrome due to a receptor defect with failure of and organization in male. Which is confirmed by Karyotyping. However with a normal Karyotype, normal external features and absent uterus suggests Rokisansky syndrome and blind vagina 40% renal tract anomalies and skeletal anomalies. If male internal organ, with female phenotype and 46 xy suggests 5 alpha reductase deficiency with no dihydro-testosterone and testicular feminising syndrome.