MRCOG PART 2 SBAs and EMQs
| Course PAID | ||
| notes | 336 | |
| EMQ | 1502 | |
| SBA | 2115 | |
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ESSAY 143 - PRIMARY AMENORRHOEA
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Posted by narmin B. |
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| The reasons for primary amenorrhoea in this woman can be related to pregnancy, constitutional delay, hypothalamus, pituitary, systemic disease, ovary and mulerian duct system. In order to reach a diagnosis based on clinical features, taking a good history and thorough examination are required. Delayed menarche in close relative should be asked, as in a woman with no other medical problem and normal examination findings, the reason can be constitutional delay. However constitutional delay at the age of 20 is uncommon and other causes of amenorrhoea should be investigated thoroughly. The woman is sexually active and always the possibility of pregnancy should be excluded. Presence of pregnancy symptoms such as nausea, vomiting, breast tenderness is not specific to pregnancy and can be seen in many other conditions. On examination there may be signs of pregnancy such as change of colour of vagina and cervix, with an enlarged soft uterus. However firm diagnosis of pregnancy, especially early pregnancy, based on clinical features is not always possible. There may be a history of severe weight loss and eating disorders. On examination patient?s BMI is low( below !9) and there is fine hair (lanego) covering her skin and gynaecological examination is normal. In this condition the diagnosis is anorexia nervosa and hypothalamic amenorrhoea. Similarly if she had a history of severe exercise (for example in athletes) with normal gynaecological findings, hypothalamic cause is a strong possibility. Other hypothamic causes of primary amenorrhoea such as hypothalamic lesions like craniophrangioma, gelioma, encephalitis and irradiation to the head can be discovered from patient?s history. When there is anosmia with primary amenorrhoea, Kallman?s syndrome is the most possible diagnosis. If the patient complains of galactorrhoea and visual disturbances and headache, hyperprolactinaemia and pituitary micro or macro adenoma is the most likely diagnosis. Gynaecology examination is normal but visual fields examination is abnormal and galactorrhoea can be demonestrated. Presence of symptoms such as tiredness, reduced activity and weight gain in the presence of a family history of thyroid diseases and enlarged thyroid on examination and normal gynaecology findings, hypothyroidism is a strong possibility. In a patient with clinical characteristics such as webbed neck, wide pigeon chest and short stature and primary amenorrhoea, Turner syndrome can be diagnosed firmly. In an obese woman with signs of hyper androgenemia such as hirsutism, acne and male pattern scalp hair loss, polycystic ovarian disease is a firm diagnosis. If she complains of severe hot flushes, hair loss and dry skin and vagina, premature ovarian failure should be considered. As these symptoms are not diagnostic and premature ovarian failure is not a common cause of primary amenorrhoea at this age, care should be taken in making firm diagnosis before full investigation. During examination it may be noticed that there is only a partial or blind vagina. Rectal examination may show absence of the uterus and cervix, in this case a strong diagnosis of mulerian duct abnormalities can be made. |
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Posted by Sarwat F. |
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| In woman who presents with primary amenorrohea, a probable diagnosis can be reached by taking history and performing clinical examination. In the history it is important to ask about features of any medical disorders like hypothyroidism, diabetes and cushings syndrome. So patient will be asked if she has any deepening of voice, dry skin, slowed mentation, stria, polydipsia, polyuria and constipation. As anorexia nervosa can lead to amenorrohea it is important to ask about any history of weight gain or weight loss, her eating habits, exercise, any history of anosmia in view of kallmans syndrome. Any history of emotional upset as psychological dysfunction can cause amenorrohea. Galactorrohea will be asked as hyperprolactinemia can also lead to primary amenorrohea. Any history of cyclical lower abdominal pain as outflow tract obstruction of the genital tract can lead to primary amenorrohea. History of use of any medication will be asked like tranquilizers, hypotensive drugs and antipsychotic drugs. Any history of injuries particularly head injuries. Any surgeries if she had for example trauma or hydrocephalus can lead to amenorrohea. Another possibility in this woman is pregnancy so history of nausea, vomiting and breast tenderness will be asked. She will also be asked about hot flushes as premature ovarian failure can be present. Then family history will be asked like age of menarche in sisters and mothers and history of menstrual irregularities in the family for chromosomal causes of gonadal dysfunction. Then examination will be done. Her height and weight will be checked to calculate the body mass index which if less than 19kg/cm2 can be associated with amenorrohea. Height and stature is also important because certain abnormalities in which secondary sex characters are absent are associated with short stature. Signs of endocrine dysfunction can be checked like dry skin, facial hairs, presence of stria and pigmentation. Galactorrohea if demonstrable can point towards hyperprolatinemia. Secondary sexual characters are checked like axillary and pubic hair growth and their staging is done according to tanner’s staging to check the degree of abnormality present. Any abnormalities in visual fields as it may be associated with pituitary dysfunction. Breast development and its staging will be done to get the idea of estrogen levels in the blood. Then abdominal examination will be done to see for any abdominal mass arising from the pelvis as can occur with haematometra, any tenderness present. Inspection of external genital organs will be done to check their growth if appropriate according to age. A careful digital vaginal examination can be done to check if vagina is blind or patent. |
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Posted by uma M. |
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| Primary amenorrhoea in a 20 yr old women active requires detailed eveluation.Initial evaluation though can assist to reach firm diagnosis in few, further evaluation in the form of investigations like hormonal assay, imaging, karyotyping are essential for confirmation in many. Evaluation starts with history - which should include history of cyclical pain abdomen, development of secondary sexual charecters,virilization,hirsuitism, excessive exercise,eating disorders,loss of sense of smell,chemotherapy/radiotherapy in child hood,visual symptoms,headache,breast secretions,head injury,meningitis ,contraceptive usage,any psychosocial problems.Family h/osimilar problems(delayed /abnormal puberty), galactosaemia,CAH noted. I would examine for secondary sexual charecters like pubic &axillary hair,breast for tanner staging and galactorrhoea , height,weight- calculate BMI. Signs of hisuitism /virilization noted. Perform examination includes CVS examination for any coarctation,any neurological abnormalities s/o intracranial pathology like tumors, abdominal examination of any mass,enlarged uterus, pregnancy,inguinal region for palpable testis s/o male karyotype. .External genitalia should be examined for hymen perforation ,any bluish discoloration at introitus in imperforate hymen (unlikely to have imperforate hymen as she had sexual activity).clitoromegaly should be noted. Blind ending vagina, should be noted by VE. VE/rectal examination for presense of uterus performend.visual fields tested if she has any complaints Primary amenorrhoea with normal secondary sexual charecters with absent uterus ,blind ending vagina is suggestive of either Mullerian agenesis or Androgen insensitive syndrome. Skeletal abn are assoc iated with mullerian agenesis.A female phenotype with absent axillary and pubic hair , with large , abnormal breasts with small nipples,presence of inguinal hernia, testes in the inguinal region or in the abdomen, point to the diagnosis of androgen insensitivity syndrome .Karyotyping is required for futher confirmation. Turners syndrome causes ovarian failure. Short stature,webbed neck,absent secondary sexual charecters, uterus present .wide carrying angle,sheild chest,CVS abnormalities like coarctation of aorta are sugestive. No secondary sexual charecters with anosmia _kallman\'s syndrome. Out flow tract abnormalities are evident - normal secondary sexual charecters,blind ending vagina,with h/o cyclical pain abdomen are due to transeverse vaginal septum/vaginal atresia ,imprforate hymen . H/o chemotherapy,radiotherapy, galactosaemia are sugestive of ovarian failure.there will be absent secondary sexual charecters, uterus present. LOw BMI ,absent sexual charecters,uterus present, with h/o exercise,wt loss acute, anorexia, are sugestive of hypothalamic cause Anorexia nervosa. there will be hypothermia ,hypotension,lanugo hair. h/o Stress also causes hypothalamic amenorrhoea. Presense of hirsuitism ,virilization ,with normal secondary sex charecters are due to PCOS, Androgen secreting tumors,Late onset CAH,poorly controlled CAH of child hood,Incomplete androgen insistivity syndrome, 5-alpha reductase def,true hermaphrodite. Obese, BMI >30 are likely to be with PCOS.Family h/o CAH H/o sterroid intake from child hood are sugestive of CAH. Presense of inguinal hernia, palpable mass in ingunial region with virilization are sugestive of male karyotype as in Incomplete androgen insistivity syndrome, 5-alpha reductase def,true hermaphrodite. Abnormal breast secretions,h/o visual disturbanses head ache, are sugestive of pitutary causes like tumors. Cold intolerance, weight gain, dry skin, constipation, and bradycardia, may suggest hypothyroidism In a sexually active women with no h/o contraceptive usage it is always possible that she is pregnant.Examination will exclude this. Further investigations should be directed by history ,findings and presense or absense of uterus. |
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Posted by Nibedita R. |
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| The causes of primary amenorrhoea in a sexually active women are constitutional delay, chronic systemic illness, mullerian agenesis, transverse vaginal septum, complete androgen insensitivity syndrome, abnormal gonadal development (Turner syndrome, gonadal dysgenesis), and hypothalamic pituitary dysfunction such as pituitary tumour, craniopharyngioma, kallman syndrome, Laurence-Moon-biedl syndrome (relatively uncommon). Causes of secondary amenorrhoea can also cause primary amenorrhoea if they start before puberty. These are polycystic ovarian syndrome, anorexia nervosa, excessive exercise and psychological cause, hyperprolactinaemia, premature ovarian failure (autoimmune, chemo/radiotherapy, infection). Pregnancy and contraceptive use should also be taken into consideration. A detailed history, clinical examination includes: height, weight, general and systemic examination, breast examination including secondary sexual characteristics (pubic hair and axillary hair), abdomino pelvic, internal and per rectal examinations would be performed to reach a definitive clinical diagnosis. Presence of family history of delayed age at menarchy of older sister/mother, normal height and weight, presence of internal organs and absence of secondary sexual characteristics is diagnostic of constitutional delay. Normal height, weight and secondary sexual characteristics with cyclical lower abdominal pain, bulging in the vagina with bluish colouration, presence of abdominopelvic mass (haematocolpos) if detected on internal and P/R examination is diagnostic of transverse vaginal septum. Normal stature, with absence of axillary and pubic hair, large breast with small nipple, inguinal/labial swelling (gonad), blind ending vagina and absence of uterus points to the diagnosis of complete androgen insensitivity syndrome. Short stature, web neck, shield like chest, widely spaced nipple, wide carrying angle, scoliosis, lymphoedema, low hair line, normal intelligence, presence of uterus and absence of breast, pubic and axillary hair development are diagnostic of turner syndrome. Normal sexual development, with normal height and weight, absence of uterus, varying length of vagina and presence of ovaries are indicative of Rokitansky-kuster- hauser syndrome (rare cause). Severe weight loss >15% body weight, bradycardia, dry skin, altered hair distribution (lanugo hair), abnormal eating habits, poorly developed breast, pubic and axillary hairs, normal height and internal organs are highly suggestive of anorexia nervosa. Athletes involved in endurance events like long distance runners can present with primary amenorrhoea with poorly developed secondary sexual characteristics even when weight is in the normal range. Chronic illness like IDDM, Hypothyroidism (bradycardia, delayed relaxation of ankle jerks, coarse skin, non pitting oedema, thyroid swelling, subnormal intelligence) chronic renal failure, congenital cardiac disorders, respiratory condition like cystic fibrosis, coeliac disease and chronic illness like tuberculosis (specially from tropical country). Failure of pubertal development when associated with suggestive history and systemic feature of the specific condition present can lead to a possible diagnosis. Hirsuitism, acne, obesity, acanthosis nigricans (hyperpigmented thickened skin folds of axilla and neck- signs of insulin resistance), male pattern of balding, deepening of voice, adnexal cystic mass (PCO), normal uterus and normal breast (size may be reduced in extreme virilisation) and sexual hair is indicative of PCOS. Presence of headache, visual disturbances, nausea vomiting and galactorrhoea are highly indicative of hyperprolactinemia due to hypothalamic-pituitay mass lesion (pituitary adenoma, craniopharryngioma). History of radiotherapy, chemotherapy, mumps infection during pre pubertal age and menopausal symptoms like hot flush, insomnia, anxiety, night sweats and vaginal dryness are suggestive of premature ovarian failure which is very uncommon at this age. Anosmia, colour blindness, absence of secondary sexual characteristics but normal height, weight, intelligence and internal genital organs are diagnostic indicator of Kallman syndrome. Obesity, retinitis pigmentosa, mental retardation, polydactyly are characteristics of Laurance-Moon-Biedl syndrome. These are very rare hypothalamic causes of primary amenorrhoea. Psychological cause of primary amenorrhoea should be considered when all other features are normal. Pregnancy can be possible in sexually active woman without having any previous menstruation and should be excluded. Contraceptive use should be enquired as some contraceptive like depo provera can cause amenorrhoea. |
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Posted by vijaya L. |
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| Failure to menstruate beyond the age of 16 years may be due to the disease or dysfunction of the HPO axis or outflow tract. Diagnostic workup is usually directed by the history and specific clinical features. A detailed history regarding cyclical abdominal pain, headache, anorexia nervosa, vigorous exercise, milk discharge from the breast, history of meningitis and head injury are taken. A physical and gynecological examination should be carried out looking for height, weight, hirsutism and acne, breast development and discharge from the breast, axillary and pubic hair and development of vagina, uterus and cervix. Constitutional delay is the most common diagnosis in primary amenorrhoea. This supported by the family history of similar complaint and partial development of the secondary sexual characters and presence of mullerian structures. Short stature is an important feature which when accompanied by webbed neck, shield chest and wide carrying angle strongly suggests turners syndrome and karyotyping is indicated. Normal secondary sexual characteristics usually indicates functioning HPO axis. In the presence of normal secondary sexual characters, cyclical abdominal pain, abdomino- pelvic mass with or without bluish bulging membrane in the vagina would indicate outflow tract obstruction in the form of imperforate hymen or transverse vaginal septum. Imperforate hymen might be rare in this woman who is sexually active. On the other hand in mullerian agenesis, secondary sexual characters are normal and short blind vagina can be identified with absence of uterus and cervix. Female phenotype with well developed breasts, small nipples and absence of axillary and pubic hair points towards the diagnosis of testicular feminization syndrome. These individuals usually have a short blind vagina and testes might be in the inguinal canals. These gonads should be removed due to the increased risk of malignancy. Presence of hirsutism and acne might indicate either polycystic ovarian syndrome or late onset congenital adrenal hyperplasia. Absence or under development of secondary sexual characters indicates disruption of the HPO axis. Lack of sense of smell can be associated with agenesis of arcuate nucleus of the hypothalamus known as kallman?s syndrome. Obesity, mental retardation and sexual infantilism are the features of Laurence-Moon-Beidel syndrome. Vigorous exercise, anorexia nervosa can also suppress the hypothalamic function and result in primary amenorrhoea. Pituitary dysfunction is usually due to functioning or nonfunctioning tumors presenting with headache, visual symptoms, galactorrhoea, and other endocrinopathies like acromegaly or hypothyroidism. Pervious history of radiotherapy or chemotherapy, metabolic syndromes like galactosemia, can be the causes for ovarian dysfunction. Severe systemic disorders like liver and kidney disease can suppress HPO axis causing primary amenorrhoea.. |
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Posted by Sonali G. |
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| Primary amenorrhoea is defined as the failure to start mensturation by the age of 16 years. Family history of delayed age of menarche in her sisters or mother can suggest a possible constitutional or familial cause. Developmental history of establishing various milestones of puberty is important as delayed development of secondary sexual characteristics can suggest a normal developmental delay. Enquiry about dietary habits is important as anorexia nervosa can lead to amenorrhoea. Stress in personal, social or professional life can be associated with amenorrhoea. If she is an athelete it could be the possible cause. History of fractured skull, brain surgery, chemotherapy or radiotherapy can cause hypogonadotrophic hypogonadism or ovarian failure and thus cause amenorrohoea. Headaches or visual field defects can suggest intracranial tumors (which can inhibit dopamine pathway causing hyperprolactenemia) or a prolactinoma causing amenorrohoea. Galactorrhoea is present in about 70% of the cases of hyperprolactenemia. Drug history needs to be asked as certain drugs such as antipsychotics or methyldopa can cause hyperprolactenemia and amenorrhoea. Features of hypothyroidism like lethargy, weight gain should be asked for. Presence of other autoimmune disorders like diabetes, hashimotos thyroiditis, cushings, can suggest a possible autoimmune cause of ovarian failure. History of viral infection like mumps or tuberculosis of pelvis can suggest ovarian failure. cyclical pain every month signifies cryptomenorrhea and thus imperforate hymen. On examination, short stature, widely spaced nipples, webbed neck, wide carrying angle can suggest turner syndrome (46XO) which is a major cause of premature ovarian failure in this young girl. Presence of sparce axillary and pubic hair with good breast development, short and blind vagina, and possible palpable testes in groins or labia with absent uterus can be diagnostic of testicular feminisation syndrome. On examination, absence of uterus and cervix and tubes, with all other normal features suggest mullerian agenesis / Rockitansky syndrome. Presence of acne or hirsutism along with history of recent weight gain can suggest polycystic ovarian syndrome. Blueish bulging membrane at introitus suggest imperforate hymen. Vaginal examination is also done to rule out any vaginal septum Thus a meticulous and systematic history and examination can be helpful in establishing a provisional diagnosis. |
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Posted by Iman B. |
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| A history from the patient should be taken for loss of sense of smell, persistent headaches, visual disturbances, or cyclic pains. Patient should be asked about eating problems, previous history of radiation therapy, or partaking in strenuous athletic exercises. On examination, checking for presence or absence of secondary sexual characters. If there is breast tissue, and secondary sexual characters are present, the basal metabolic index (BMI)is taken as well as patients height. A tall female, with loss of sense of smell may suggest Kallman\'s syndrome, ultrasound will show infantile uterus. If the patient has a low fat to muscle ratio, with lower than mean BMI, and history of strenuous exercise there is a possibility of anorexia nervosa. uterus will appear normal in size and patient is of average height. In both cases there will be a low level of gonadotrophins and estrogen and progesterone. If patient is presenting with headaches, galactorrhoea, visual disturbances, suggest a possibility of prolactinomas, or chromophobe tumors. The patient will be of average height, with complete secondary sexual characters and serum prolactin will appear markedly elevated. CT of the brain will show the enlarged sella turcica. If the woman is shorter than average, the possibility of a pituitary dwarf, caused by empty sella syndrome, or a craniopharyngioma, where there will appear by lab tests a state of panhypopituitarism. If the woman has secondary sexual characters, and is of average height and complains of cyclical pains, then examination may reveal a short vaginal stump with bulging septum(imperforate transverse vaginal septum with consequent hematocolpos and hematometra,) rectal examination may elicit the presence of a large mass(the hematometra) and Ultrasound will confirm the diagnosis. The patient will have normal gonadotrophin levels and estrogen and progesterone. Another abnormality may be the presence of a solitary uterus in the absence of a vagina, and a small pouch is present at the site of the vagina.(Rokitansky syndrome) In the absence of breast tissue on palpation,, a short female with webbed neck and a wide carrying angleof the elbow and short fourth metacarpal bone, suggests turners syndrome. Ultrasound will show absence of ovaries, and lab tests reveal a state of hypergonadotrophic hypogonadism. This will require karyotyping for confirmation. Resistant ovary syndrome may be present where a state of hypergonadotrophic hypogonadism is present, in which case the patient will appear short but with secondary sexual characters present. serum testosterone should be done for these patients to exclude possibility of androgen insensitivity syndrome or five alpha reductase where a state of hypergonadotrophic hypogonadism is also associated with male levels of testosterone and absence of virilisation. |
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Posted by SWATI M. |
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| Detailed history should be obtained before clinical examination which will help in the diagnosis.Symptoms such as nausea,vomiting,breast tenderness should be enquired which suggest pregnancy .Method of contraception enquired ,particularly DMPA injections which causes amenorrhoea.Family history of delayed menarche suggest constitutional delay,which is a common cause but it is unlikely to present at age of 20 years.Development of secondary sexual characters breast,pubic and axillary hairs should be enquired.Weight loss,dietary habits suggest weight related causes for amenorrhoea.Anorexia nervosa may cause primary amenorrhoea.Excessive exercise may cause amenorrhoea,in athelets and gymnasts.History of hirsutism,acne,seborrhea,obesity which suggest polycystic ovarian syndrome may manifest as primary amenorrhoea.Symptoms of headache,visual disturbances,galactorrhea suggestive of hypothalamo-pituitary tumour.History of anosmia will be present in Kallman?s syndrome.History of childhood malignancy and treatment with chemotherapy or radiotherapy should be taken into account. Clinical examination includes height,weight,development of secondary sexual characteristics (breast ,pubic and axillary hairs graded by Tanner?s staging) visual fields,abdominal ,speculum and vaginal examination. Uterus will be enlarged and soft in pregnancy but firm diagnosis in early pregnancy is not possible by clinical examination alone.Normal height ,weight,presence of uterus with normal growth of secondary sexual characters suggest constitutional delay.Lanugo hair,bradycardia,hypotention,low BMI suggest anorexia nervosa.Short stature,low hair line,increased carrying angle,broad chest with widely spaced nipples with hypogonadism are features suggestive of Turner?a syndrome. Hirsutism with acanthosis nigricans and central obesity seen in PCOS.Hirsutism or features of virilisation will be seen in late onset CAH.In hypothalamo-pituitary disorder hypogonadism seen with presence of uterus.In androgen insentivity syndrome normal breast development with absence of uterus and cervix,blind vagina and presence of testis in inguinal region will be detected.Abdomino -pelvic mass due to haemotocolpos,normal secondary sexual characters and with septum in vagina will be seen in transverse vaginal septum. |
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Posted by SWATI M. |
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| Dear Dr.Paul, Requesting you to provide scheme to approach such question along with your answer. Should we write history with it\'s significance first and then followed by clinical examination and findings for each condition?But in this , are we expected to write how do we perform and what particular things to look for in clinical examination before writing specific condition?Then answer becomes too long and can not be finished in time. Or we write each differential diagnosis with history and clinical examinations suggesting particular diagnosis. Please help. Thanks. |
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Posted by SWATI M. |
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| Dear Dr.Paul, Please comment on my essay. Thanks. |
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