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A 13 year old girl has had a very heavy period for the past 7 days. Menarche age 12, this is her fourth period. The last three menstrual cycles have varied between 31 and 33 days, each getting heavier. The patient is not pregnant, and takes no regular medications. Her vital signs are stable and bleeding has now stopped. Coagulation profile is normal. Ultrasound shows a normal uterus. Hb is 85, Hct 0.25. The MOST APPROPRIATE next step in management is
a. Dilation and curettage
b. IV oestrogen
c. Cyclical progesterone
d. Oral contraceptive

d. Oral contraceptive


A 15yo has primary amenorrhoea. She is 1.7m tall, weight 50kg, phenotypic female with no somatic anomalies. Breasts are Tanner stage 2, pubic hair Tanner stage 3. External genitalia infantile. Pelvic exam difficult, ultrasound shows vagina and a small uterus. She has increased FSH and LH, normal TSH and PRL. Karyotype 46XY. The management of this patient should include:
a. Bilateral gonadectomy
b. Hysterectomy
c. Hysterectomy and BSO
d. Laparoscopy and gonadal biopsy.

a. Bilateral gonadectomy

46XY - Swyer syndrome / Complete gonadal dysgenesis

Need gonadal removal to avoid germ cell tumours (30%)


A 14yo had her first menses 6 months ago. She complains of ongoing bleeding despite using a tampon. The most likely diagnosis is:

a. Rectovaginal fistula
b. Vaginal agenesis
c. Complete duplication of uterus, vagina and cervix
d. Vesicovaginal fistula

c. Complete duplication of uterus, vagina and cervix


Anorexia nervosa

a. Is associated with elevated gonadotrophins
b. Can result in severe osteoporosis if prolonged
c. Is associated with anovulation but normal oestrogen levels
d. Is not associated with collagen skin changes or wrinkling

b. Can result in severe osteoporosis if prolonged


Which of the following regarding Androgen Insensitivity Syndrome is correct
a. The testosterone is below that of a normal male
b. Pubescence is delayed because of the absence of endogenous hormones
c. The risk of dysgerminoma/gonadal neoplasm is high until 20 years of age
d. The syndrome is X linked recessive
e. The gonads should be removed as soon as the diagnosis is made

d. The syndrome is X linked recessive

Phenotypically female with normal breast development but sparse pubic hair
- At puberty, testosterone converts peripherally to oestrogen so secondary characteristics start to develop
Primary amenorrhoea as no uterus

Risk of gonadal malignancy (CAIS)
- Small risk during childhood ~5%
Increases during adulthood (~14%), therefore recommend gonadectomy in early adulthood (16-25y)


The significance of polycystic ovaries on the pre-pubescent younger sister of a woman with PCOS is
a. It suggests partial 21-hydroxylase deficiency in the family
b. She is consuming oocytes at an increased rate and will have an earlier menopause
c. It is a marker for insulin resistance
d. It means she will develop PCOS

c. It is a marker for insulin resistance


7. If a person was born with a relative lack of the enzyme 17-alpha hydroxylase, you would expect the person to have

a. Salt losing syndrome
b. Absent vagina
c. Hypertension
d. Hirsutism

c- Hypertension

If due to 17-alpha hydroxylase deficiency - corticosterone (steroid with glucocorticoid and mineralocorticoid activities) synthesised --> HTN
- Defect is earlier in pathway than 21--hydroxylase, so no DHEA produced, therefore no sex hormones
- Male patients - range from phenotype female to ambiguous genitalia
- Females have primary amenorrhoea and absent secondary sexual characteristics
Also HTN and minimal body hair


Which of these is LEAST likely to cause precocious puberty

a. Astrocytoma
b. McCune Albright syndrome
c. Von Recklinghausens disease (Neurofibromatosis)
d. Frolichs syndrome

d. Frolichs syndrome
- Symptoms are of excessive eating, delayed puberty and small testicles

Type 1 neurofibromatosis does cause precocious puberty - central


Klinefelter syndrome is associated with each of the following except

a. Testicular hypoplasia
b. Raised serum FSH concentration
c. Azoospermia
d. Impotence

d. Impotence


A mother brings her 14yo daughter for evaluation for lack of periods. Which of the following is the MOST IMPORTANT physical finding to establish a diagnosis

a. Acanthosis nigricans
b. Tanner stage 3 breast development
c. Normal visual fields
d. Waist to height ratio of 0.6

b. Tanner stage 3 breast development

Acanthosis nigricans

velvety, hyperpigmented plaques on the skin. Intertriginous sites, such as the neck and axillae, are common sites for involvement. Less frequently, acanthosis nigricans appears in other skin sites or on mucosal surfaces.

Clinical recognition of acanthosis nigricans is important because the disorder can occur in association with a variety of systemic abnormalities, many of which are characterized by insulin resistance


Which would be found in a patient with primary amenorrhoea age 18, with Mullerian agenesis

a. Uterus present, breasts undeveloped
b. Uterus present, breasts developed
c. Uterus absent, breasts undeveloped
d. Uterus absent, breasts developed
e. Uterus present, clitoromegaly

d. Uterus absent, breasts developed


Which would be found in a patient with primary amenorrhoea age 18, and Turner syndrome
a. Uterus present, breasts undeveloped
b. Uterus present, breasts developed
c. Uterus absent, breasts undeveloped
d. Uterus absent, breasts developed
e. Uterus present, clitoromegaly

a. Uterus present, breasts undeveloped


Delayed puberty (no secondary sexual characteristics by age 13 or no menses by age 15) would be expected to occur in what percentage of the female population?

a. 0.1%
b. 0.25%
c. 1%
d. 2.5%
e. 5%

d. 2.5%

Estimate from google, no good resource


14. The best test to diagnose CAH is

a. ACTH stimulation test
b. Serum testosterone and androstenedione levels
c. Dexamethasone suppression test
d. 17-OH progesterone level

d. 17-OH progesterone level


A 15yo is evaluated for primary amenorrhoea and masculinisation. She was taller than her childhood peers. Pubic hair growth began age 6, facial hair age 8 and she shaves regularly. Examination findings include height 1.6 metres, BP 120/80, and she has prominent musculature. Breasts Tanner stage 2, clitoris is enlarged, and there is moderate posterior labial fusion. USS demonstrates no pelvic mass, and uterus is present. This karyotype is MOST LIKELY to be:

a. XX
b. XXY
c. XX/XY
d. XYY
e. XY

a. XX

Working diagnosis if non-classic CAH
- uterus,
- Virilisation


16. A 16yo comes to the office wanting to change her oral contraceptive pill because of ‘depression’. She reports feeling very down for the past month, losing 4kg, and is not sleeping well. She is unable to concentrate on school and her grades have dropped. Her parents are in the process of obtaining a divorce. In response to questioning, she has been collecting pills from her mothers medicine cabinet. The MOST APPROPRIATE management of this patient is:

a. Prescribe antidepressants
b. Arrange psychiatric evaluation
c. Refer to the school guidance counsellor for an appointment
d. Discontinue the oral contraceptive

b. Arrange psychiatric evaluation


Which of the following is NOT a common feature of anorexia nervosa
a. Dry skin
b. Diarrhoea
c. Weakness
d. Amenorrhoea
e. Osteoporosis

b. Diarrhoea


In an adolescent, which of the following is a manifestation of a defect in the migration of primordial germ cells

a. Precocious puberty
b. Pubertal failure
c. Pubertal delay
d. Congenital absence of the vagina
e. Hirsutism

b. Pubertal failure

Gonadal dysgenesis
Result in premature depletion of all ovarian oocytes and follicles


Individual’s with which of the following causes of primary amenorrhoea may ovulate spontaneously

a. Turner syndrome (45X0)
b. Kallmann syndrome
c. Androgen Insensitivity syndrome
d. Uterovaginal agenesis

d. Uterovaginal agenesis

Androgen insensitivity - XY
Turner syndrome - gonadal dysgenesis
Kallmann syndrome - hypothalamic hypogonadism


Which of the following is the MOST COMMON cause of female pseudo hermaphroditism

a. Virilising ovarian tumour
b. Exogenous androgen
c. Chromosomal abnormality
d. Congenital adrenal hyperplasia

d. Congenital adrenal hyperplasia

Congenital adrenal hyperplasia
Most common cause of ambiguous genitalia


A 6yo girl is bought to you by her mother who has noticed that the child has a persistent bloodstained vaginal discharge. The MOST APPROPRIATE management would be:

a. Inspect the vulva and perform a rectal examination to exclude foreign body
b. Take a bacteriologic swab from the discharge and treat accordingly
c. Counsel the mother and arrange an Examination Under Anaesthesia
d. Perform a pelvic ultrasound to exclude foreign body and malignant disease

c. Counsel the mother and arrange an Examination Under Anaesthesia