MRCOG Part 2—550 MCQs, EMQs and SAQs Rekha Wuntakal, Tony Hollingworth, David Redford
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231EMQs232

Adolescent gynaecologyChapter 16

 
Questions 1–5
Options for Questions 1–5
  1. Autoimmune ovarian failure
  2. Constitutional delay
  3. Craniopharyngioma
  4. Etoposide
  5. Galactosaemia
  6. Iatrogenic
  7. Irradiation
  8. Kallmann syndrome
  9. Laurence–Moon–Bardet–Biedl syndrome
  10. Langerhans cell histiocytosis
  11. McCune–Albright syndrome
  12. Noonan syndrome
  13. Rubella
  14. Turner syndrome
  15. Tuberculosis
Instructions: For each clinical scenario described below, choose the single most appropriate diagnosis from the list of options above. Each option may be used once, more than once, or not at all.
  1. A 16-year-old girl attends her general practitioner centre with her mother as she has not attained menarche. Clinical examination reveals a short stature, cubitus valgus and coarctation of the aorta. Ultrasound scan shows streak gonads.
  1. N Turner syndrome
    Turner syndrome is the most common cause of gonadal failure in young girls. Short stature is the most common clinical presentation in childhood; however, young girls may present with primary amenorrhoea during pubertal age. The most common chromosomal abnormality is 45XO, followed mosaicism and by X isochromosomes.
  1. A 15-year-old girl attends the paediatric emergency department with a fall. Clinical examination reveals a short stature, hypertelorism, downward slanting of the eyes and a right-sided heart murmur.
  1. L Noonan syndrome
    Noonan syndrome is an autosomal dysmorphic syndrome. It is characterised by hypertelorism (an increase in distance between the inner canthi of eyes), downward slanting of the eyes, low set posteriorly rotated ears, short stature and right-sided cardiac anomalies. The incidence is 1 in 2500 live births.
  1. A 14-year-old girl attends her general practitioner centre with her mother as she has not attained menarche. She has a history of an unknown cancer at the age of 10 years and had received chemotherapy in Pakistan.
  1. D Etoposide
    Chemotherapy is one of the most common causes of ovarian failure in peripubertal children. Etoposide, procarbazine and nitrosourea can cause permanent ovarian failure while transient ovarian failure is associated with vincristine.
  1. A 7-year-old girl attends the paediatric emergency department with her mother as she started to have monthly vaginal bleeding. Clinical examination reveals incomplete sexual precocity and café-au-lait spots with irregular borders.
  1. K McCune–Albright syndrome
    Breast development corresponding to Tanner stage 2 before the age of 8 years in a girl is considered as precocious puberty in the UK. It is also known as central precocious puberty and is caused by the premature activation of the hypothalamic-pituitary-gonadal axis.
    McCune–Albright syndrome is caused by a somatic activating mutation of the alpha subunit of G proteins. Most cases are sporadic but autosomal dominant inheritance has been reported. It is characterised by incomplete sexual precocity, café-au-lait pigmentation and polyostotic fibrous dysplasia. The sexual precocity in this condition is independent of gonadotrophins.
  1. A 6-year-old girl is brought to her general practitioner by her mother as she started to have vaginal bleeding. Clinical examination is normal. She was prescribed steroid hormonal cream by a local general practitioner in Pakistan, to be applied in the vulval area, as she had itching 6 months ago.
  1. F Iatrogenic
    Exogenous steroids are a well-known cause of sexual precocity. The most common drugs used are oestrogen–containing creams and pills. Other potential sources of oestrogens include soy formulas and ginseng cream (phyto-oestrogens).
Banerjee K. Puberty delayed. In: Hollingworth T (ed). Differential Diagnosis in Obstetrics and Gynaecology: An A–Z. London: Hodder Arnold, 2008.
Banerjee K. Puberty precocious. In: Hollingworth T (ed). Differential Diagnosis in Obstetrics and Gynaecology: An A–Z. London: Hodder Arnold, 2008.
Balen A. Chapter 14: Disorders of puberty. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic–pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
234
 
Questions 6–10
Options for Questions 6–10
  1. Angelman syndrome
  2. Androgen insensitivity syndrome
  3. Congenital adrenal hyperplasia
  4. Gonadal dysgenesis
  5. Hypothyroidism
  6. Hyperprolactinaemia
  7. Noonan syndrome
  8. Klinefelter syndrome
  9. Mayer–Rokitansky–Küster–Hauser syndrome
  10. Fragile X syndrome
  11. Pituitary tumour
  12. Pituitary prolactinoma
  13. Turner syndrome (45XO)
  14. Turner mosaic (45XO/46XX)
  15. von Hippel–Lindau disease
Instructions: For each scenario described below, choose the single most appropriate diagnosis for amenorrhoea from the list of options above. Each option may be used once, more than once, or not at all.
  1. A 16-year-old tall girl presents with primary amenorrhoea. On clinical examination there is normal breast development, sparse axillary and pubic hair, blind vaginal pouch and an absent uterus.
  1. B Androgen insensitivity syndrome
    Androgen insensitivity syndrome is an X-linked recessive inherited disorder. The karyotype is 46XY (male genotype) and external genitalia usually appear female. Breast development is normal with sparse axillary and pubic hair. Genital examination will reveal a short, blind vaginal pouch with an absent uterus. Cases with partial androgen insensitivity syndrome can present with ambiguous genitalia at birth and this poses real difficulty in gender assignment. The gonads should be removed after puberty in view of the high incidence of developing malignancy (gonadoblastoma) in the future (approximately 5%).
  1. A 16-year-old young girl is referred to the gynaecology clinic by her general practitioner with primary amenorrhoea. She gives a history of excessive weight gain and lethargy. Secondary sexual characters are normal on clinical examination. Investigations reveal raised serum thyroid-stimulating hormone (TSH) and prolactin levels.
  1. E Hypothyroidism
    Hypothyroidism can be associated with hyperprolactinaemia in 3–5% of cases.
  1. A 16-year-old tall girl presents with primary amenorrhoea. She has been taking medication for psychosis since the age of 13 years.
  1. F Hyperprolactinaemia
    Drugs used to treat psychosis (e.g. haloperidol, reserpine) can cause hyperprolactinaemia (pharmacological therapy is associated with hyperprolactinaemia in 1–2% of cases). Other drugs that can cause hyperprolactinaemia include metoclopramide, methyldopa, phenothiazines (trifluoperazine, prochlorperazine, chlorpromazine, thioridazine) and cimetidine.
    Hyperprolactinaemia is characterised by abnormally high levels of prolactin that is normally down-regulated by dopamine in the hypothalamus. Hence, dopamine agonists are the mainstay of treatment.
    Hyperprolactinaemia can be caused by reduced dopamine levels, increased production of prolactin from a prolactinoma or compression of the pituitary stalk by non-prolactin secreting tumours such as craniopharyngiomas, chromophobe adenomas or growth hormone secreting tumours. Prolactinomas can be microadenomas or macroadenomas. Two per cent of patients with microadenomas develop symptoms or signs of tumour progression during pregnancy, while 15% do so with macroadenomas.
    Drugs used in the treatment of hyperprolactinaemia
    Bromocriptine:
    • dopamine agonist
    • dose: start with the lowest dose of 1.25 mg at bedtime and gradually increase to 7.5 mg in divided doses daily
    • common side effects: nausea, vomiting, headache and postural hypotension
    • may cause adverse psychiatric effects at the beginning of therapy
    • the side effects can be minimised by taking the tablets at bedtime
    Cabergoline:
    • long-acting dopamine agonist
    • dose: start with 0.25–1 mg twice weekly and this can be increased to 1 mg daily
    • fewer side effects compared to bromocriptine
    • can be used in women who cannot tolerate bromocriptine due to its side effects
    • may cause adverse psychiatric effects
    • it is not licensed for use in pregnancy
    • a single dose (1 mg) can be used for breast milk suppression in women with fetal loss
    Quinagolide:
    • long-acting dopamine agonist
    • dose: 25–150 µg daily in divided doses
    • fewer side effects compared to bromocriptine
    • can be used in women who cannot tolerate bromocriptine due to its side effects
    • may cause adverse psychiatric effects
    • it is not licensed for use in pregnancy
  1. A 16-year-old tall girl presents with primary amenorrhoea. She gives a history of visual disturbance for the last year. She has changed her glasses twice in the last year and her blood sugars are normal. Clinical examination reveals bitemporal hemianopia.
  1. L Pituitary prolactinoma
    The most common causes of hyperprolactinaemia are pituitary prolactinomas (found in 40–50% of cases) and idiopathic hypersecretion. Pituitary prolactinomas can present with visual disturbances especially visual field defects as the prolactinoma presses on the optic chiasma (nasal fibres which represent the temporal field are affected). In view of this, visual field testing will reveal bitemporal hemianopia. Blood tests will reveal hyperprolactinaemia and computed tomography (CT) or magnetic resonance imaging (MRI) will show a pituitary tumour.
  1. A 16-year-old girl is referred to the gynaecology clinic by her general practitioner with primary amenorrhoea. She has recently been unwell, hospitalised and diagnosed with coarctation of aorta and a renal abnormality. Blood tests’ results are suggestive of autoimmune hypothyroidism.
  1. Turner syndrome (XO) is associated with congenital heart defects (coarctation of the aorta).
Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic-pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
Balen A. Chapter 14: Disorders of puberty. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
235
 
Questions 11–15
Options for Questions 11–15
  1. Adrenal adenoma
  2. Adrenal carcinoma
  3. Anorexia nervosa
  4. Bulimia nervosa
  5. Cushing disease
  6. Cushing syndrome
  7. Gynandroblastoma
  8. Hypothalamic cause
  9. Hypothyroidism
  10. Hyperthyroidism
  11. Hyperprolactinaemia
  12. Late onset congenital adrenal hyperplasia
  13. Polycystic ovary syndrome
  14. Premature menopause
  15. Sheehan syndrome
Instructions: For each clinical scenario described below, choose the single most appropriate cause of amenorrhoea from the list of options above. Each option may be used once, more than once, or not at all.
  1. A 22-year-old woman, who is studying at university, presents to her general practitioner with amenorrhoea during the last 6 months. She has a body mass index of 15 but she thinks she is overweight and goes to the gym every day. Her urine pregnancy test is negative. A blood test reveals slightly low follicle-stimulating hormone (FSH) and luteinising hormone (LH) levels.
  1. C Anorexia nervosa
    Anorexia nervosa is more commonly seen in adolescent females than males. It is an eating disorder characterised by a low body weight, distortion of the body image and an obsessive fear of gaining weight. It can involve the hypothalamic-pituitary-gonadal axis causing hypothalamic amenorrhoea (usually if body mass index <18).
  1. A 30-year-old woman presents to her general practitioner with amenorrhoea (lasting a year). She gives a history of an intraductal carcinoma of the breast (T2L2M1) 18 months previously. Subsequently, she received three cycles of chemotherapy followed by a left-sided mastectomy. Four weeks later she received radiotherapy for the left breast and axilla. She has one child and wants to conceive.
  1. N Premature menopause
    Chemotherapy drugs used in the treatment of breast cancer are toxic to the ovary and can cause premature menopause.
  1. A 20-year-old woman is referred to the gynaecology clinic having had amenorrhoea for the past 6 months and a negative pregnancy test. She has recently noticed an increased growth of hair on the face, chin and chest with clitoromegaly. Her blood test results show very high levels of 17-hydroxyprogesterone.
  1. L Late onset congenital adrenal hyperplasia
    An increase in the growth of hair on the face, chin and chest, deepening of the voice clitoromegaly, male pattern hair loss and an increase in muscle bulk are symptoms of virilisation (excessive androgen levels). These can be symptoms of virilising adrenal adenoma, adrenal carcinoma, adrenal hyperplasia and some ovarian tumours. Serum levels for androgens such as testosterone, dehydroepiandrosterone sulphate and urinary 17-ketosteroid excretion, are generally well above the normal range in virilising adrenal tumours. Failure to suppress androgen secretion after the administration of dexamethasone is normally indicative of a virilising adrenal tumour. An MRI scan of the abdomen and pelvis should be arranged to rule out virilising adrenal and ovarian tumours.
    Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency. About 95% of cases of CAH are caused because of the lack of enzyme 21-hydroxylase, resulting in the inadequate production of two vital hormones; cortisol and aldosterone; but an increase in the production of androgens via alternative pathways in hormone synthesis. CAH can present at birth, early childhood, late childhood and adulthood. The late onset, or non-classical, form is usually milder and may manifest during adolescence or even later in women. It can present with hirsutism, acne, anovulation and infertility. The diagnosis is usually made from very high levels of serum 17-hydroxyprogesterone. The treatment is low dose glucocorticoids.
  1. A 25-year-old woman presents to her general practitioner with a history of amenorrhoea for the last 6 months. She is an athlete and has recently participated in the Olympics. Her serum FSH and LH levels are normal.
  1. H Hypothalamic cause
    Amenorrhoea due to weight loss, excessive exercise and stress are usually due to a hypothalamic cause.
  1. A 20-year-old woman presents to her general practitioner with facial hirsutism and irregular periods for the past year. She has recently put on weight and her body mass index is 28.
  1. M Polycystic ovary syndrome
    Polycystic ovaries are commonly seen in 25% of women in the reproductive age. It is defined as polycystic ovary syndrome (PCOS) when associated with symptoms such as menstrual irregularity, hirsutism and anovulation.
    PCOS: definition by the Rotterdam European Society for Human Reproduction and Embryology (ESHRE) and the American Society of Reproductive Medicine (ASRM) PCOS Consensus Workshop Group.
    Two of the three following criteria should be present to diagnose PCOS:
    • polycystic ovaries (either 12 or more peripheral follicles or increased ovarian volume (>10 cm3)
    • clinical and/or biochemical signs of hyperandrogenism
    • oligo- or anovulation
    Women who are overweight or obese should be advised to lose weight (5–10% weight loss can correct menstrual irregularity) as this corrects hormonal imbalance, reduces insulin resistance and initiates ovulation in such women. However, one should treat patients symptomatically (e.g. hirsutism, irregular periods, infertility). All women should be counselled about the short-term (infertility, menstrual irregularity and hirsutism) and the long-term implications (hypertension, type 2 diabetes, ischaemic heart disease and endometrial cancer) of PCOS.
Royal College of Obstetricians and Gynaecologists. Green-top Guideline No. 33. Long-term consequences of polycystic ovarian syndrome. London: RCOG Press, 2007.
Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic–pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
236Answers
  1. A 16-year-old girl attends her general practitioner centre with her mother as she has not attained menarche. Clinical examination reveals a short stature, cubitus valgus and coarctation of the aorta. Ultrasound scan shows streak gonads.
  1. N Turner syndrome
    Turner syndrome is the most common cause of gonadal failure in young girls. Short stature is the most common clinical presentation in childhood; however, young girls may present with primary amenorrhoea during pubertal age. The most common chromosomal abnormality is 45XO, followed mosaicism and by X isochromosomes.
  1. A 15-year-old girl attends the paediatric emergency department with a fall. Clinical examination reveals a short stature, hypertelorism, downward slanting of the eyes and a right-sided heart murmur.
  1. L Noonan syndrome
    Noonan syndrome is an autosomal dysmorphic syndrome. It is characterised by hypertelorism (an increase in distance between the inner canthi of eyes), downward slanting of the eyes, low set posteriorly rotated ears, short stature and right-sided cardiac anomalies. The incidence is 1 in 2500 live births.
  1. A 14-year-old girl attends her general practitioner centre with her mother as she has not attained menarche. She has a history of an unknown cancer at the age of 10 years and had received chemotherapy in Pakistan.
  1. D Etoposide
    Chemotherapy is one of the most common causes of ovarian failure in peripubertal children. Etoposide, procarbazine and nitrosourea can cause permanent ovarian failure while transient ovarian failure is associated with vincristine.
  1. A 7-year-old girl attends the paediatric emergency department with her mother as she started to have monthly vaginal bleeding. Clinical examination reveals incomplete sexual precocity and café-au-lait spots with irregular borders.
  1. K McCune–Albright syndrome
    Breast development corresponding to Tanner stage 2 before the age of 8 years in a girl is considered as precocious puberty in the UK. It is also known as central precocious puberty and is caused by the premature activation of the hypothalamic-pituitary-gonadal axis.
    McCune–Albright syndrome is caused by a somatic activating mutation of the alpha subunit of G proteins. Most cases are sporadic but autosomal dominant inheritance has been reported. It is characterised by incomplete sexual precocity, café-au-lait pigmentation and polyostotic fibrous dysplasia. The sexual precocity in this condition is independent of gonadotrophins.
  1. A 6-year-old girl is brought to her general practitioner by her mother as she started to have vaginal bleeding. Clinical examination is normal. She was prescribed steroid hormonal cream by a local general practitioner in Pakistan, to be applied in the vulval area, as she had itching 6 months ago.
  1. F Iatrogenic
    Exogenous steroids are a well-known cause of sexual precocity. The most common drugs used are oestrogen–containing creams and pills. Other potential sources of oestrogens include soy formulas and ginseng cream (phyto-oestrogens).
Banerjee K. Puberty delayed. In: Hollingworth T (ed). Differential Diagnosis in Obstetrics and Gynaecology: An A–Z. London: Hodder Arnold, 2008.
Banerjee K. Puberty precocious. In: Hollingworth T (ed). Differential Diagnosis in Obstetrics and Gynaecology: An A–Z. London: Hodder Arnold, 2008.
Balen A. Chapter 14: Disorders of puberty. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
237Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic–pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
  1. A 16-year-old tall girl presents with primary amenorrhoea. On clinical examination there is normal breast development, sparse axillary and pubic hair, blind vaginal pouch and an absent uterus.
  1. B Androgen insensitivity syndrome
    Androgen insensitivity syndrome is an X-linked recessive inherited disorder. The karyotype is 46XY (male genotype) and external genitalia usually appear female. Breast development is normal with sparse axillary and pubic hair. Genital examination will reveal a short, blind vaginal pouch with an absent uterus. Cases with partial androgen insensitivity syndrome can present with ambiguous genitalia at birth and this poses real difficulty in gender assignment. The gonads should be removed after puberty in view of the high incidence of developing malignancy (gonadoblastoma) in the future (approximately 5%).
  1. A 16-year-old young girl is referred to the gynaecology clinic by her general practitioner with primary amenorrhoea. She gives a history of excessive weight gain and lethargy. Secondary sexual characters are normal on clinical examination. Investigations reveal raised serum thyroid-stimulating hormone (TSH) and prolactin levels.
  1. E Hypothyroidism
    Hypothyroidism can be associated with hyperprolactinaemia in 3–5% of cases.
  1. A 16-year-old tall girl presents with primary amenorrhoea. She has been taking medication for psychosis since the age of 13 years.
  1. F Hyperprolactinaemia
    Drugs used to treat psychosis (e.g. haloperidol, reserpine) can cause hyperprolactinaemia (pharmacological therapy is associated with hyperprolactinaemia in 1–2% of cases). Other drugs that can cause hyperprolactinaemia include metoclopramide, methyldopa, phenothiazines (trifluoperazine, prochlorperazine, chlorpromazine, thioridazine) and cimetidine.
    Hyperprolactinaemia is characterised by abnormally high levels of prolactin that is normally down-regulated by dopamine in the hypothalamus. Hence, dopamine agonists are the mainstay of treatment.
    Hyperprolactinaemia can be caused by reduced dopamine levels, increased production of prolactin from a prolactinoma or compression of the pituitary stalk by non-prolactin secreting tumours such as craniopharyngiomas, chromophobe adenomas or growth hormone secreting tumours. Prolactinomas can be microadenomas or macroadenomas. Two per cent of patients with microadenomas develop symptoms or signs of tumour progression during pregnancy, while 15% do so with macroadenomas.
    Drugs used in the treatment of hyperprolactinaemia
    Bromocriptine:
    • dopamine agonist
    • dose: start with the lowest dose of 1.25 mg at bedtime and gradually increase to 7.5 mg in divided doses daily
    • common side effects: nausea, vomiting, headache and postural hypotension
    • may cause adverse psychiatric effects at the beginning of therapy
    • the side effects can be minimised by taking the tablets at bedtime
    238Cabergoline:
    • long-acting dopamine agonist
    • dose: start with 0.25–1 mg twice weekly and this can be increased to 1 mg daily
    • fewer side effects compared to bromocriptine
    • can be used in women who cannot tolerate bromocriptine due to its side effects
    • may cause adverse psychiatric effects
    • it is not licensed for use in pregnancy
    • a single dose (1 mg) can be used for breast milk suppression in women with fetal loss
    Quinagolide:
    • long-acting dopamine agonist
    • dose: 25–150 µg daily in divided doses
    • fewer side effects compared to bromocriptine
    • can be used in women who cannot tolerate bromocriptine due to its side effects
    • may cause adverse psychiatric effects
    • it is not licensed for use in pregnancy
  1. A 16-year-old tall girl presents with primary amenorrhoea. She gives a history of visual disturbance for the last year. She has changed her glasses twice in the last year and her blood sugars are normal. Clinical examination reveals bitemporal hemianopia.
  1. L Pituitary prolactinoma
    The most common causes of hyperprolactinaemia are pituitary prolactinomas (found in 40–50% of cases) and idiopathic hypersecretion. Pituitary prolactinomas can present with visual disturbances especially visual field defects as the prolactinoma presses on the optic chiasma (nasal fibres which represent the temporal field are affected). In view of this, visual field testing will reveal bitemporal hemianopia. Blood tests will reveal hyperprolactinaemia and computed tomography (CT) or magnetic resonance imaging (MRI) will show a pituitary tumour.
  1. A 16-year-old girl is referred to the gynaecology clinic by her general practitioner with primary amenorrhoea. She has recently been unwell, hospitalised and diagnosed with coarctation of aorta and a renal abnormality. Blood tests’ results are suggestive of autoimmune hypothyroidism.
  1. Turner syndrome (XO) is associated with congenital heart defects (coarctation of the aorta).
Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic-pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
Balen A. Chapter 14: Disorders of puberty. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.
  1. A 22-year-old woman, who is studying at university, presents to her general practitioner with amenorrhoea during the last 6 months. She has a body mass index of 15 but she thinks she is overweight and goes to the gym every day. Her urine pregnancy test is negative. A blood test reveals slightly low follicle-stimulating hormone (FSH) and luteinising hormone (LH) levels.
  1. C Anorexia nervosa
    Anorexia nervosa is more commonly seen in adolescent females than males. It is an eating disorder characterised by a low body weight, distortion of the body image and an obsessive fear of gaining weight. It can involve the hypothalamic-pituitary-gonadal axis causing hypothalamic amenorrhoea (usually if body mass index <18).
  1. A 30-year-old woman presents to her general practitioner with amenorrhoea (lasting a year). She gives a history of an intraductal carcinoma of the breast (T2L2M1) 18 months previously. Subsequently, she received three cycles of chemotherapy followed by a left-sided mastectomy. Four weeks later she received radiotherapy for the left breast and axilla. She has one child and wants to conceive.
239
  1. N Premature menopause
    Chemotherapy drugs used in the treatment of breast cancer are toxic to the ovary and can cause premature menopause.
  1. A 20-year-old woman is referred to the gynaecology clinic having had amenorrhoea for the past 6 months and a negative pregnancy test. She has recently noticed an increased growth of hair on the face, chin and chest with clitoromegaly. Her blood test results show very high levels of 17-hydroxyprogesterone.
  1. L Late onset congenital adrenal hyperplasia
    An increase in the growth of hair on the face, chin and chest, deepening of the voice clitoromegaly, male pattern hair loss and an increase in muscle bulk are symptoms of virilisation (excessive androgen levels). These can be symptoms of virilising adrenal adenoma, adrenal carcinoma, adrenal hyperplasia and some ovarian tumours. Serum levels for androgens such as testosterone, dehydroepiandrosterone sulphate and urinary 17-ketosteroid excretion, are generally well above the normal range in virilising adrenal tumours. Failure to suppress androgen secretion after the administration of dexamethasone is normally indicative of a virilising adrenal tumour. An MRI scan of the abdomen and pelvis should be arranged to rule out virilising adrenal and ovarian tumours.
    Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency. About 95% of cases of CAH are caused because of the lack of enzyme 21-hydroxylase, resulting in the inadequate production of two vital hormones; cortisol and aldosterone; but an increase in the production of androgens via alternative pathways in hormone synthesis. CAH can present at birth, early childhood, late childhood and adulthood. The late onset, or non-classical, form is usually milder and may manifest during adolescence or even later in women. It can present with hirsutism, acne, anovulation and infertility. The diagnosis is usually made from very high levels of serum 17-hydroxyprogesterone. The treatment is low dose glucocorticoids.
  1. A 25-year-old woman presents to her general practitioner with a history of amenorrhoea for the last 6 months. She is an athlete and has recently participated in the Olympics. Her serum FSH and LH levels are normal.
  1. H Hypothalamic cause
    Amenorrhoea due to weight loss, excessive exercise and stress are usually due to a hypothalamic cause.
  1. A 20-year-old woman presents to her general practitioner with facial hirsutism and irregular periods for the past year. She has recently put on weight and her body mass index is 28.
  1. M Polycystic ovary syndrome
    Polycystic ovaries are commonly seen in 25% of women in the reproductive age. It is defined as polycystic ovary syndrome (PCOS) when associated with symptoms such as menstrual irregularity, hirsutism and anovulation.
    PCOS: definition by the Rotterdam European Society for Human Reproduction and Embryology (ESHRE) and the American Society of Reproductive Medicine (ASRM) PCOS Consensus Workshop Group.
    Two of the three following criteria should be present to diagnose PCOS:
    • polycystic ovaries (either 12 or more peripheral follicles or increased ovarian volume (>10 cm3)
      240
    • clinical and/or biochemical signs of hyperandrogenism
    • oligo- or anovulation
    Women who are overweight or obese should be advised to lose weight (5–10% weight loss can correct menstrual irregularity) as this corrects hormonal imbalance, reduces insulin resistance and initiates ovulation in such women. However, one should treat patients symptomatically (e.g. hirsutism, irregular periods, infertility). All women should be counselled about the short-term (infertility, menstrual irregularity and hirsutism) and the long-term implications (hypertension, type 2 diabetes, ischaemic heart disease and endometrial cancer) of PCOS.
Royal College of Obstetricians and Gynaecologists. Green-top Guideline No. 33. Long-term consequences of polycystic ovarian syndrome. London: RCOG Press, 2007.
Critchley HOD, Horne A, Munro K. Chapter 16: Amenorrhoea and oligomenorrhoea, and hypothalamic–pituitary dysfunction. In: Shaw RW, Luesley D, Monga A (eds). Gynaecology (4th edn). Edinburgh: Churchill Livingstone, 2011.