amenorrhea- QUESTIONS Flashcards
1 - Women with a history of polycystic ovary disease are at increased risk of endometrial neoplasia
2- The first sign of puberty is the onset of menstruation
3 - Regarding puberty, growth as measured by height stops at menarche
4 - Women with a history of polycystic ovary disease are at increased risk of osteoporosis
1 - True. The stimulatory effect of estrogen on the endometrium, if unopposed by progesterone, can induce endometrial carcinogenesis.
2 - False. The first sign of puberty is thelarche (breast development).
3 - False. Growth stops at the completion of puberty.
4 - False. Women with polycystic ovaries are not estrogen deficient and, therefore, not at risk of osteoporosis.
1 - The incidence of Turner’s syndrome (XO) rises with maternal age
2 - Turner’s syndrome is lethal in >95% cases
3 - Cystic hygroma is associated with Turner’s syndrome
4 - They occur with the same frequency as autosomal abnormalities in live births
5 - All cases of Turner’s syndrome (XO) are due to gene deletion
1 - The answer is false. Unlike non-disjunctions, the incidence of Turner’s syndrome does not appear to rise with maternal age.
2 - The answer is true. Specific mortality is three times higher in Turner’s syndrome compared with the normal population.
3 - The answer is true.
4 - The answer is true. This condition occurs in about 1 in 2500 female births.
5 - The answer is false. The cause is complete or partial chromosome X monosomy. The genes on chromosome X responsible for the condition have not yet been identified.
Are the following features of androgen insensitivity syndrome?
1 - Primary amenorrhoea
2 - Normal breast development
3 - Absence of a uterus
1 - The answer is true. Androgen insensitivity is a condition where the individual has 46XY genotype but are phenotypically females due to end organ insensitivity to androgens. As a result they have intrabdominal testes and an absent uterus.
2 - The answer is true. Some of the testosterone produced is converted to estradiol and this induces breast development.
3 - The answer is true. Androgen insensitivity is a condition where the individual has 46XY genotype but are phenotypically females due to end organ insensitivity to androgens. As a result they have intrabdominal testes and an absent uterus.
The side effects of bromocriptine include…
Hypotension
Nausea
Miscarriage
Congenital abnormalities
Multiple pregnancy
1 - The answer is true. Bromocriptine is associated with symptomatic hypotension. Studies have shown a fall in systolic and diastolic pressures in postpartum women. It can even lead to reduced mental alertness and precautions should be exercised while driving if the patient is on Bromocriptine.
2 - The answer is true. This is mediated through the stimulation of the brainstem vomiting centre.
3 - answer is false.
4 - The answer is false. Studies in rats have shown that Bromocriptine is not associated with mutagenic effects.
5 - The answer is false.
Kallmann syndrome is characterised by…
1 - Precocious puberty
2 - Over-secretion of gonadotrophin-releasing hormone (GnRH)
3 - Amenorrhoea
4 - Anosmia
5 - Genital hypertrophy
1- The answer is false. Delayed puberty may be a feature.
2 - The answer is false. It is associated with hypogonadotropic hypogonadism.
3 - The answer is true. Mutations in the KAL1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. This results in failure of migration of olfactory neurons and GnRH producing neurons in the brain leading to hypothalamic hypogonadism and amenorrhoea.
4 - The answer is true. There is poor development of the olfactory bulb.
5- False
Regarding Turner syndrome…
1 - It is characterised by non-pitting oedema at birth
2 - Mosaicism can occur only after fertilisation
3 - It may occur either in the pure or the mosaic form
4 - Positive sex chromatin is a feature
5 - There is a high estrogen level
1 - The answer is true.
2 - The answer is true. Mosaicism is a random event during cell division after fertilisation.
3 - The answer is true.
4 - The answer is false.
5 - The answer is false.
Regarding the imperforate hymen…
1 - It may lead to haematosalpinx
2 - Is usually identified earlier in life than puberty
3 - Is frequently associated with renal abnormalities
4 - Is often found with uterine didelphis
5 - It generally requires reconstructive surgery
6 - Dysmenorrhoea is common
7 - It may be associated with urinary retention
8 - Secondary sexual development is usually absent
9 - Is typically diagnosed in 5- to 10-year-old girls
1 - The answer is true. This is a result of backflow from the obstruction.
2 - The answer is false.
3 - The answer is false.
4 - The answer is false.
5 - The answer is false. Hymenectomy is usually performed.
6 - The answer is false.
7 - The answer is true.
8- The answer is false.
9 - The answer is false.
Irreversible causes of delayed puberty in girls include…
1 - Anorexia nervosa
2 - Hyperprolactinaemia
3 - Hypothyroidism
4 - Kallman’s syndrome
5 - Diabetes mellitus
1 - The answer is false.
2 - The answer is false.
3 - The answer is false.
4 - The answer is true.
5 - The answer is false.
Regarding premature ovarian failure…
1 - It is unlikely to occur prior to puberty
2 - It occurs in 15% of women
3 - It may be caused by previous surgery
4 - It is unlikely to be caused by infection
5 - It should be confirmed by ovarian biopsy
1 - The answer is false. It may occur prior to puberty, especially in women with chromosomal abnormality.
2 - The answer is false. It occurs in 1% of women.
3 - The answer is true. Bilateral oophorectomy can cause premature ovarian failure.
4 - The answer is false. Cytomagalovirus, mumps, shigella and human immunodeficiency virus are all associated with premature ovarian failure.
5 - The answer is false. Ovarian biopsy is not necessary.
What would you consider to be the priority of investigations for amenorrhoea?
First (highest priority)
Second
Third
Fourth (lowest priority)
1 - FSH test
2 - Ultrasound scan
3 - Prolactin tests
4 - Pregnancy test
Pregnancy test
FSH test
Prolactin test
Ultrasound scan
Amenorrhoea of pituitary origin
Serum prolactin:<500 mu/l
Interpretation: Normal range
Action: None
<1000 mu/l
Consistent with stress or recent breast examination Repeat
700-2500 mu/l
Hypothyroidism/ PCOS
Check TSH, T4, FSH/LH, testosterone, SHBG
<3000 mu/l
Non-functioning macroadenoma
MRI or CT head scan will demonstrate hypothalamic tumours, non-functioning pituitary tumours causing hypothalamic compression and micro/macroadenomas of the pituitary. Threshold for imaging: >1500 mu/l on two occasions.
1500-4000 mu/l
Functioning microadenoma
When amenorrhoea is consequence of hyperprolactinaemia, presenting symptoms are more commonly related to estrogen deficiency. Up to 30% of patients may have galactorrhoea but this bears no correlation with prolactin levels or the presence of a tumour. Only 5% will display visual field defects.
In this case of a pituitary tumour in pregnancy…
1 - Recommence bromocriptine and monitor response with serum prolactin levels
2 - No treatment is necessary as spontaneous resolution is likely
3 - Trans-sphenoidal adenectomy is necessary
4 - Advise against breastfeeding
1 - The answer is true.
2 - The answer is false.
3 - The answer is false.
4 - The answer is false.
Key points hyperprolactinemia
- Hyperprolactinaemia is one of the most common causes of amenorrhoea.
- Galactorrhoea is uncommon and visual field defects are quite rare.
- Elevated prolactin in isolation is often iatrogenic.
- MRI provides the safest and best images of adenomas.
- Medical therapy with dopamine agonists is safe and effective in the short and long-term. It may be titrated down to the minimum effective dose and even withdrawn under surveillance.
Key points of amenorrhea of ovarian origin
- PCOS is the most common cause of amenorrhoea of ovarian origin.
- Diagnosing premature ovarian failure and giving adequate hormonal cover is essential.
- Think chromosomal disorders and autoimmune causes if other causes are excluded.
Key points of amenorrhea due to outflow tract abn
- Radiological identification of presence/absence of uterus and adnexia is the key.
- Chromosomal analysis is the next step.
- Adequate management once diagnosis is made is essential.
Regarding PCOS…
1 - In women with polycystic ovary disease, the presence of 12 or more follicles seen in an ovary on ultrasound examination is one of the criteria for diagnosis
2 - A raised sex hormone binding globulin level is a feature of PCOS
3 - A raised free testosterone level is a feature of PCOS
4 - Insulin resistance is a feature of PCOS
5 - Age 12-45 years is a feature of PCOS
6 - Co-treatment with metformin may increase the clinical pregnancy rate in women undergoing fertility treatment
7 - There is an increased risk of cardiovascular disease in women with PCOS
8 - Eflornithine (vaniqa) can be used to treat hirsutism
1 - The answer is true. In polycystic ovary disease, there is follicular arrest and no single follicle reaches the preovulatory size.
2 - The answer is false. Sex hormone binding globulin level is low in PCOS.
3 - The answer is true. Ovarian hyperandrogenism is driven primarily by luteinising hormone (LH) in slim women, while in the overweight, insulin may augment the effects of LH. (Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Hum Reprod 2004;19:41-7.)
4 - The answer is true.
5 - The answer is true. PCOS is a problem of the reproductive age group.
6 - The answer is true. Recent studies have shown that metformin increases the clinical pregnancy rates in both obese and non obese women with PCOS.
7 - The answer is true.
8 - The answer is true.
1 - Growth hormone may be used for the treatment of Turner’s syndrome
2 - Tall stature is associated with Turner’s syndrome
3 - Low hairline is associated with Turner’s syndrome
4 - Visuospatial difficulties are associated with Turner’s syndrome
5 - Well developed breasts are associated with Turner’s syndrome
6 - A thin neck is associated with Turner’s syndrome
7 - Low set ears are associated with Turner’s syndrome
8 - Increased recurrence is a known association with Turner’s syndrome
9 - Prenatal diagnosis is possible
10 - Streak ovaries are associated with Turner’s syndrome
11 - Congenital cardiac abnormalities are associated with Turner’s syndrome
12 - There is a reduced life expectancy
13 - Micrognathia is associated with Turner’s syndrome
1 - The answer is true.
2 - The answer is false. Turner’s syndrome is associated with short stature.
3 - The answer is true. 30% of females with Turner’s syndrome have a low hairline at the back of the neck (webbed neck).
4 - The answer is true.
5 - The answer is false. Women with Turner’s syndrome have under-developed breasts.
6 - The answer is false. A webbed neck is a known association with Turner’s syndrome.
7 - The answer is true.
8 - The answer is false.
9 - The answer is true. Diagnosis is possible by amniocentesis and karyotyping. Also by ultrasound findings such as abnormal kidney, cardiac defect, cystic hygroma and ascites.
10 - The answer is true. There is associated gonadal dysgenesis.
11 - The answer is true. About half of the women with Turner syndrome are born with a heart defect. This is the most common cause of death in adults with Turner’s syndrome.
12 - The answer is true. This is of the order of about 10 years due to endocrine, metabolic and cardiac problems.
13 - The answer is true.
Regarding androgen insensitivity syndrome (AIS)…
1 - AIS can be due to a gene mutation
2 - Prenatal diagnosis is possible
3 - Short stature is associated with AIS
4 - Poor breast development is associated with AIS
5 - AIS can occur in phenotypic males
1 - The answer is true. This can be due to a mutation in the androgen receptor gene, which leads to a defective receptor gene.
2 - The answer is true. Amniocentesis can show a male genotype with ultrasound evidence of a female phenotype.
3 - The answer is false. Height is normal or above average as the growth spurt starts later than in genotypic females.
4 - The answer is false. There is normal breast development.
5 - The answer is true. Mild degrees of AIS in males may be associated with male subfertility.
Regarding bromocriptine…
1 - Side effects of bromocriptine include a worsening of psychotic symptoms
2 - Bromocriptine is a dopamine agonist
3 - Bromocriptine is used for the treatment of type 2 diabetes mellitus
4 - Bromocriptine is used to suppress lactation
5 - Bromocriptine is used to suppress ovulation
1 - The answer is true. Bromocriptine opposes the action of dopamine antagonist anti-psychotic agents.
2 - The answer is true. Bromocriptine is a dopamine D2 receptor agonist.
3 - The answer is true. It is approved by the FDA and marketed as cycloset.
4 - The answer is true.
5 - The answer is false.
Regarding the imperforate hymen…
1 - A vaginal cyst is a differential diagnosis
2 - It is a fold of mucous membrane
3 - It is associated with cyclical pelvic pain
4 - Urinary retention may be a feature of an imperforate hymen
5 - Emergency hymenectomy is the treatment of choice for an imperforate hymen
1 - The answer is true.
2 - The answer is true.
3 - The answer is true.
4 - The answer is true.
5 - The answer is false. The procedure should be performed as a planned procedure after the necessary investigations have been performed.
Regarding premature ovarian failure…
1 - This is ovarian failure before the age of 50
2 - The cause may be familial
3 - The cause may be due to autoimmune disease
4 - Spontaneous pregnancy can occur
5 - There is a risk of osteoperosis
6 - Karyoptyping may be indicated
7 - The risk of cardiovascular disease is decreased
1 - The answer is false. It is ovarian failure before the age of 40.
2 - The answer is true. The cause may be familial in up to 10% of cases.
3 - The answer is true. It occurs in up to 20% of women with premature ovarian failure.
4 - The answer is true. In younger women without chromosomal abnormality, up to 5% may experience spontaneous pregnancy.
5 -The answer is true. This is due to estrogen deficiency.
6 - The risk of cardiovascular disease is decreased
7 - The answer is false. It is increased due to estrogen deficiency.
A 17-year-old woman who is 1.8 metre tall with a BMI of 21 has normal breast development and no axillary or pubic hair. Her estrogen level is higher than the male average, but lower than the female average; a pregnancy test was negative; there was a normal FSH level and a markedly elevated LH level. She has not yet started to menstruate. Histological analysis of tissue from a recent bilateral inguinal herniorraphy showed the presence of testicular tissue.
- Androgen insensitivity syndrome
- Asherman’s syndrome
- Familial delayed puberty
- Impeforate hymen
- Kallman’s syndrome
- PCO
- POF
- MRKH
- Sheehan’s syndrome
- Turner’s syndrome
The answer is Androgen insensitivity syndrome. Complete androgen insensitivity is diagnosed by tall stature, normal breast development, absent pubic hair and intrabdominal testes.
A 20-year-old woman who has previously had regular periods had a surgical termination of pregnancy while on holiday abroad. She developed septicaemia following the procedure and complained of amenorrhea for 8 months following this episode. Pregnancy has been ruled out. Pelvic ultrasound is suggestive of intrauterine adhesion.
- Androgen insensitivity syndrome
- Asherman’s syndrome
- Familial delayed puberty
- Impeforate hymen
- Kallman’s syndrome
- PCO
- POF
- MRKH
- Sheehan’s syndrome
- Turner’s syndrome
The answer is Asherman’s syndrome. A history of surgical termination and infection following the procedure gives the clue but, ultrasound confirming intrauterine adhesions gives away the diagnosis of Asherman’s.
An 18-year-old woman of average height and with a BMI of 38, whose periods started at the age of 14 and are now very infrequent. She has not had a period for 5 months. Her pregnancy test is negative and her thyroid function test and prolactin level are normal. She is worried about her amenorrhoea, increasing weight gain, acne and oily skin. A recent transvaginal pelvic ultrasound examination revealed bilateral bulky ovaries each with 13-15 follicular cysts measuring 4-8 mm.
- Androgen insensitivity syndrome
- Asherman’s syndrome
- Familial delayed puberty
- Impeforate hymen
- Kallman’s syndrome
- PCO
- POF
- MRKH
- Sheehan’s syndrome
- Turner’s syndrome
The answer is Polycystic ovary syndrome. Irregular menstruation, raised BMI, acne and hirsuitism is the clue to diagnosing polycystic ovarian syndrome.
