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Delayed puberty - primary amenorrhoea

 
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Nick Raine-Fenning
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Joined: 27 May 2006
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Location: Nottingham

PostPosted: Mon Feb 26, 2007 5:42 pm    Post subject: Delayed puberty - primary amenorrhoea Reply with quote

A 15-year old girl requests referral to the gynaecology clinic because she very anxious that all of her friends have started to menstruate except her.

What other information would you want to know and why?
(8 marks)

What would you look for on examination? (5 marks)

What tests would be appropriate? (7 marks)
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Last edited by Nick Raine-Fenning on Sat Mar 03, 2007 12:02 pm; edited 1 time in total
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Abik
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Location: Poole

PostPosted: Sat Mar 03, 2007 10:35 am    Post subject: Reply with quote

This is my worst nightmare question - just can't seem to keep the information in my head!

Here goes!

1
History;
seondary sexual characteristics - if normal, as she is not yet 16 can reassure and wait, likely OK
if abnormal or absent - will need Ix as this is delayed (>14yrs)
Diagnosis also lead by presence/absence.

Fam Hx of delay?/ cong probs?/ AIS?
Hypo-hypo;
Eating habits - wt loss - exercise (anorexia)
chronic illness
const/lethargy (thyroid)

Pituitary
smell, colour blind (kallmans)
galactorrhoea/visual probs (prolactinoma)

ovaries/adrenals?
virilism (tumour/PCOS)

mullerian
dysmenn (hymen)
FH
renal problems

? pretty crap eh?

2
Examination
tanner scores for pubic hair and breasts
ht and wt - BMI, short stature
imperf hymen
no VE
general - goitre, web neck, hyperpig, visual fields, galact,

3
tests
USS pelvis - ovaries and uterus (presence of, abn, streak gonads, tumours)
TFTS
gonadotrophins
test/FAI
karyotype
prolactin (?MRI if raised)
17 hydroxyprog + ?ACTH stim test (late onset CAH)


so - what did I miss? Crying or Very sad
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wolverine
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PostPosted: Sat Mar 03, 2007 11:06 am    Post subject: Reply with quote

I think it's great bubbling as usual Abi!
I think if 2 sexually caracteristics are present for more than 2 years you need to worry. (AIS, Rokitansky, transverse vaginal septum, imperforated hymen) If less than that is more likely constitutional especially if family history
Examination bubble I also put visual fields Razz
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Abik
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PostPosted: Sat Mar 03, 2007 11:07 am    Post subject: Reply with quote

I did put visual fields!

Rokatinsky? remind me?
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wolverine
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PostPosted: Sat Mar 03, 2007 11:09 am    Post subject: Reply with quote

You did! I think I probably need to check mine! Embarassed
Rakotinsky is that Chech striker plays for Arsenal I think...
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Nick Raine-Fenning
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PostPosted: Sat Mar 03, 2007 12:08 pm    Post subject: Reply with quote

wolverine wrote:
You Rakotinsky is that Chech striker plays for Arsenal I think...


Laughing

Nice answer Abi.

You have pretty much got all you need to ensure a good pass = 14+

Try to turn a couple of your comments into phrases such as "headache and visual disturbance may suggest a prolactinoma or over space occupying cranial lesion and requires imaging"

etc etc Wink
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rpwalavalkar
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PostPosted: Sat Mar 03, 2007 12:50 pm    Post subject: Reply with quote

we discussed the syndrome the other day abi.....


Mayer-Rokistanky-Kuster-Hauser syndrome
is a rare disorder often characterized by congenital absence of the uterus and vaginal. It may be associated with anomalies of the kidneys ranging from Ectopic to congenital absence, and also bony anomalies.

The prevalence has been reported as 1 in 4000 -5000 female births.
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Dr Miss. Raj Walavalkar MBBS MRCOG
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Nick Raine-Fenning
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Location: Nottingham

PostPosted: Sun Mar 04, 2007 8:33 am    Post subject: Reply with quote

There may be a rudimentary uterus as the actual definition includes uterine hypoplasia and not just aplasia as is often quoted.

What about the associated anomalies? Can anyone tell us the exact types and their incidences? There are some classics here that could feature in the MCQ so worth knowing.
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Abik
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PostPosted: Sun Mar 04, 2007 10:09 am    Post subject: Reply with quote

I rememver now, thanks Raj.
What was the EMQ stem?
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rpwalavalkar
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PostPosted: Sun Mar 04, 2007 10:30 am    Post subject: Reply with quote

wasn't it causes of primary amenorrhoea from the new book? i think it was.

anyway i don't think the college will worry too much if we don't put down MRKH syn, it is pretty rare.
Wink
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Dr Miss. Raj Walavalkar MBBS MRCOG
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rpwalavalkar
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PostPosted: Sun Mar 04, 2007 10:32 am    Post subject: Reply with quote

hey just thought a nice way to remember it. for all poole and bournemouth crowd this will make sense ---

just think of our only female consultant in poole, add an R to her initials / short code on case files and you will never forget the name of the syndrome . Laughing
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Dr Miss. Raj Walavalkar MBBS MRCOG
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Abik
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PostPosted: Sun Mar 04, 2007 11:42 am    Post subject: Reply with quote

In fact maybe she has it!
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Xerxes I
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PostPosted: Fri Aug 15, 2008 9:06 am    Post subject: Reply with quote

A 15-year old girl requests referral to the gynaecology clinic because she very anxious that all of her friends have started to menstruate except her.

What other information would you want to know and why? (8 marks)
Although most girls will have had their first period by this age, most of those who have not yet, will do so in the next year or so. Despite this, it is reasonable to start initial investigations, especially when the girl and her parents are anxious about delayed menstruation.
History should include general health as chronic diseases like endocrine disorders, renal failure and haemoglobinopathies can cause primary amenorrhea. The mother's age at which menstruation started is useful as daughters tend to start their periods roughly at the same age as their mother. The age at which secondary sexual characteristics (i.e. pubic hair growth, breast growth and axillary hair) started to present (if present) should be asked as menses usually start around 2 years after telarche. It should be asked whether she had a growth spurt and if there has been any significant change in her shoe size. this usually is the first to happen in the process of puberty.
eating habits and physical activity are important. Extensive physical activity, for example in professional athletes and also eating disorders like anorexia nervosa are both established causes of primary amenorrhea.
It should also be establishes if she is sexually active as pregnancy is a possibility.

What would you look for on examination? (5 marks)
Physical examination should be performed in a sensitive manner and body should be exposed one part at a time. She should be asked if she would want any of the parents present at the time of examination.
Weight and height should be measured and BMI calculated. a lowewr than normal BMI points towards eating disorders or a physical activity related cause. Height should be charted using appropriate standard charts. Secondary sexual characteristics, breast growth, pubic hair and axillary hair, should be looked for and documented according to marshall tanner staging system. A speculum or bimanual examination is not necessary and should not be performed. A blue and bulged hymen is highly suggestive of imperforate hymen. Clitoromegaly is suggestive of congenital adrenal hyperplasia. short stature, webben neck, wide carrying angle and shield chest point towards Turner's syndrome.


What tests would be appropriate? (7 marks)
A full blood count should be done to rule out severe anaemia and to look for clues of haemoglobinopathies. throid function test may be justified if the symptoms are suggestive of thyroid dysfunction. A raised LH, FSH may be suggestive of hypergonadotrophic hypogonadism wheras a low gonadotrophin level can suggest constitutional amenorrhea, anorexia nervosa or physical activity related causes. Oexstrogen and prolactin levels should also be tested. A very high prolactin is suggestive of pituitary tumors.
A pelvic ultrasound should be performed to assess pelvic organs. Absence of uterus and vagina points towards androgen insensitivity syndrome. Haematometra is suggestive of obstructive causes.
Karyotyping may be justified especially if any clues for genetic causes is present.
Xray from ankles and wrists may be needed to assess bone age and it may be necessary to do a brain MRI if pituitary tumors are suspected.
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Xerxes I
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PostPosted: Fri Aug 15, 2008 9:14 am    Post subject: Reply with quote

Ok, reading your posts, i missed Rokitanski's and kallman.
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