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MRCOG Gynaecology Part 2 Revision - Hay > Precious puberty, Primary amenorrhea > Flashcards

Precious puberty, Primary amenorrhea Flashcards

1
Q

What is precious puberty?

A

Pubertal development <8yrs

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2
Q

What is the most common cause of precious puberty? How common in girls/boys?

A

Idiopathic
74% girls
40% boys

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3
Q

What are the 2 main catergories of precious puberty?

A

GnRH-dependant (early activation of HPO axis)

GnRH-independant

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4
Q

List some causes of GnRH dependant?

A

Idiopathic
CNS abnormalitites (7% girls, 25% boys)

  • Space occupying lesion
  • Infection
  • Head injury
  • Tuberous sclerosis, neurofibromatosis
  • Late/incomplete CAH

Typically experience a growth spurt

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5
Q

List causes of GnRH-independent of precious puberty

A

1) Topical/systemic androgens/oestrogens
2) Tumous - ovarian/adrenal
3) Severe hypothyroidism
4) McCune-Albright syndrome
5) CAH

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6
Q

What % of female precious puberty is caused my McCune Albright Syndrome

A

5%

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7
Q

Describe McCune-Albright Syndrome

A

Genetic condition, hight GTPase activity

  1. Bone fibrous dysplasia → ‘ground-glass’ cortex, risk fractures, osteomalacia
  2. Hyperfunctioning endroniopathy, not from pituitary hormones
    - Hyperthyroid, cushings
    - Precious puberty
    High oestrogen/testosterone, low FSH/LH
  3. Cafe-au-lait spots
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8
Q

What questions in the Hx should be asked for precious puberty?

A

Cerebral problems - trauma, encephalitis
Symptoms suggestive of space occupying lesion - headache, seizures, visual symptoms

Onset and progression - abrupt + rapid progression suggests oestrogen secreting tumour

Symptoms suggestive of abdominal mass - pain, urinary / bowel disturbance

Symptoms of hypothyroidism

Growth spurt - may help distinguish between precocious puberty and premature telerache

Iso-sexual or heterosexual

Drug history - oestrogens / androgens

Family history - precocious puberty, inherited syndromes such as CAH / neurofibromatosis

Social history - psycho-social problems

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9
Q

What features should be looked for examination for precious puberty?

A

Height & weight

Neurological examination including optic discs
Skin- caf- au lait spots / neurofibromas

Signs of virilisation - deepening of voice, hirsutism, increased muscle mass

Stage breast and hair development

Abdominal examination - mass

Examine external genitalia for evidence of oestrogenisation / virilisation
Vaginal examination not valuable

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10
Q

What investigations should be ordered for Ix precious puberty?

A

XRAY L hand/wrist - bone age ?greater than chronological age

Serum LH,FSH, DHEA-S, Oestradiol, TSH
- Random LH level in puberty range → advance PP

GnRH stimulation test
Pelvis USS
MRI head

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11
Q

If evidence of hyperandrogenaemia, what tests should be ordered?

A

Testosterone
17-OH-poregesterone
DHEA

+/- ACTH stimulation test
?Mild form CAH

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12
Q

What the treatment aims when managing precious puberty?

A

1) Dx + Tx life threatening conditions - tumour/intra-cranial
2) Arrest maturation until normal age of puberty
3) Diminish secondary sexual charaterisitics
4) Maximise eventual height
5) Avoid emotional problems/provide contraception

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13
Q

What is the mainstay for Tx for previous puberty?

A

GnRH analogues - usually depot (not effective for non GnRH causes, CAH/McCune Albright

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14
Q

What is the definition of primary amenorrhoea

A

No pubertal growth spurt/secondary sexual characteristic by age 14

or

No menstruation by age 16

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15
Q

How many stages to the tanner scale?

A

5 stages
Breast development and pubic hair

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16
Q

What is the most common cause of primary amenorrhoea?

A

Constitutional delay
Diagnosis of exclusion

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17
Q

Describe LH/FSH pre-puberty?

A

Low circulating levels
FSH>LH

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18
Q

Explained start of puberty

A

Increased production of GnRH from hypothalamus in pulsatile fashion.
Occurs between ages 10-14 girls and 12-16 in boys.
Causes episodic pulses of LH especially at night.
As puberty advances both FSH and LH during the day, becoming more fequent.
Leads to increased gonadal steroid synthesis
LH>FSH

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19
Q

What effect does FSH and LH have on the oocyte?

A

LH stimulates theca cells to produces androstenedione

FSH stimulates granulose cell to convert androstenedione into oestrogen and progesterone

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20
Q

Normal menstruation is dependant on what 5 things?

A
  1. Normal karyotype/gene - development internal/external genitalia
  2. Normal CNS hypothalamic response & production of GnRH
  3. Normal pituitary response to GnRH & production of gonadotropins
  4. Anotmically & biochemical normal ovaries (and adrenals), with normal response to gonadotropins
  5. Presence of normal uterus, vagina and end-organ response to ovarian and adrenal steroids
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21
Q

An example of abnormal karyotype is Turners syndrome. What is the karyotype?

A

45X

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22
Q

What genetics abnormlaties can cause Turners

A
  • non disjunctions during meiosis, most often in sperm, 45 X
  • Mosaics 45X or 46XX
  • Structural abnormality of X chromosome, Xp deletion

Symptoms depend on how much of X chromosome is missing

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23
Q

How common is turner syndrome?

A

1 in 2000-3000 births

24
Q

Explain turners syndrome

A
  • Streak gonads, absent secondary sexual characteristics
  • Short stature,
  • Webbed neck (cystic hygroma), wide carrying angle
  • Lymphoedema
  • High LS/FSH - Hypergonadotrophic, hypogonadism
  • Cardiovascular: Coarctation of aorta, bicuspid aortic valve
  • Horseshoe kidneys
  • T2DM, Hypothyroidism
25
Q

What happens is turners syndrome occurs due to mosaics 45X/46XX

A

Mosaics 45X or 46XX → Fewer anatomical, 20% sufficient oestrogen to menstruate

Can also occur due to Xp deletions

26
Q

Treatment turners

A

Growth hormone in childhood
Sex hormone replacement in adolescent

27
Q

Names causes of hypothalamic hypogonadism in females

A

Genetic:
Kallmans syndrome
Idiopathic secondary hypogonaism

Acquired
Hypperprolactinaemia
Pituitary dysfunction (tumour, surgery, trauma, infection)
Eating disorder (Malnutrition)
Excessive exercise
Drugs
Obesity
Chronic conditions

28
Q

Describe Kallmans syndrome

A

Maldevelopment of neurones in arcuate nucleus from the hypothalamus, derived from the olfactory bulb
Low GnRH, Low LH/FSH, low sex hormones
Normal level other pituitary hormones
Lack primary & secondary sexual characteristics, infertility

29
Q

Where is prolactin excreted from?

A

Anterior pituitary gland - lactotroph cells

30
Q

Effect of prolactin on GnRH?

A

Inhibits GnRH, high prolactin = Hypogonadotrophic Hypogonadism

31
Q

What hormone inhibits the release of prolactin?
Stimulates release?

A

Dopamine inhibits
Thyrotopin releasing hormone

32
Q

Causes of high prolactin?

A

Physiological (pregnancy)
Pituitary adenoma (lactotroph cells)
Hypothyroidism (high TRH)
Medications (Dopamine antagonist, oestrogens)
Damage to hypothalamic pituitary stalk - trauma, nearby tumour, surgery

33
Q

Symptoms of high prolactin in women

A

Galactorhoea
Amennhoroea
Headache, impaired vision

Men → Gynaecomastia/erectile dysfunction

34
Q

Ix high prolactin

A

Pregnancy test
MRI head

35
Q

Treatment prolactinoma

A

Domapine agonist - cabergoline, bromocriptine

36
Q

List some gonadal/adrenal causes of primary amenorrhoea

A
  • Late onset congenital adrenal hyperplasia
  • Gonadal agenesis/dysgenesis - 46XX or 46XY with failure of development
  • Galactosaemia
  • Premature ovarian failure - idiopathic, chemotherapy/radiotherapy as child
37
Q

Why does congenital adrenal hyperplasia occur?

A

Overgrowth of adrenal glands due to lack of steroid producing enzyme

38
Q

What is the most common enzyme deficient in CAH?

A

21 hydroxylase definicency - decrease in aldosterone/cortisol, high 17a hydroxyprogesteone, progesterone, higher production of androgens

→ Low aldosterone - Salt wasting, Low K, high Na
→ Low cortisol - hypoglycaemia
→ High androgen - Masculisation of female genitals, early secondary sexual characterise

39
Q

Second most common enzyme deficiency in CAH?

A

11B hydroxylase definicency

Similar to 21 hydroxylase but also have hypertension due to high 11 deoxycoriticosterone (acts like a weaker aldoestetone)

40
Q

The 3rd most common deficiency in CAH 17a-hydroxylase deficincy, how does it present?

A

Low cortisol and testosterone → poorly developed genitals
High aldosterone precursors → High Na, Low K, HTN

41
Q

Draw table for 21, 11b and 17a hydrolase deficiency and differences in androgen, aldosterone and cortisol

A
42
Q

List causes of abnormal end organs response

A

Mullerian aplasia - Mayer-Rokitanksky-Kuster-Hause syndrome

Androgen insensitivity syndrome

5 alpha reductase deficiency

Vaginal atresia

43
Q

What is the 1st and 2nd most common cause of primary ammenorhoea in adolescents?

A

1 Turner
2 MRKH syndrome

44
Q

What would find on clinical examination of a person with Mayer–Rokitansky–Kuster–Hauser syndrome?

A

Normal growth
Normal age app secondary sexual characteristics
Normal external genitalia
Patulous urethra
Vaginal vault short or absent, maybe vaginal dimple
Uterus not palpated

45
Q

What would be seen on USS for a person with Mayer–Rokitansky–Kuster–Hauser syndrome?

A

Absence of uterus and fallopian tunes
Normal ovaries
May have urinary tract abnormality

46
Q

What would be seen hormone profile for a person with Mayer–Rokitansky–Kuster–Hauser syndrome?

A

Normal

47
Q

What would be found on examination of a person with androgen insensitivity syndrome?

A

Present after puberty
Normal breast development
Absent/scanty pubic/axillary hair, short blind-ending vagina, absent uterus/cervix

48
Q

Karotype of person with androgen insensitivity syndrome?

A

XY genotype (male), produce androgens but insensitivity to the hormone
Can be complete, partial or mild

49
Q

What would be found on USS for patient with androgen insensitivity syndrome?

A

Testes within abdomen/inguinal canal - cryptorchdism

50
Q

What would be found on hormone profile for androgen insensitivity syndrome?

A

Testosterone - male range (excess testosterone covered into oestrogen)
Oestrogen between male and female range
LH levels raised
FSH in normal male range

51
Q

Effect of cryptorchdism, how should this be managed?

A

High risk of testicular cancer
Gonadectomy after puberty + oestrogen replacement therapy

52
Q

What is the effect of 5 alpha reductase deficiency?
How is it inherited?

A

5alpha reductase converts testosterone to the more potent or dihydrotestosterone

Autosomal recessive

53
Q

How does 5 alpha reductase deficiency present?

A

Poor masculinisation of external genitalia in male foetus
Uterus, tubes, vagina are absent as production of mullein hormone inhibitory factor is normal
Development of wollfian ducts
Virilisation occurs at puberty due to increase of testicular testosterone

54
Q

How does vaginal atresia present?

A

Cyclical abdominal pain with retrograde menstruation and development of endometriosis

Traverse vaginal septum

Absent vagina and non functions uterus (can also have abnormal renal)

55
Q

What questions should be asked in Hx for primary amenorrhoea?

A
  • Age
  • Development of secondary sexual characteristics / hirsutism + virilisation
  • Cyclical abdominal pain
  • Exercise / eating disorder
  • Sense of smell
  • Visual symptoms / headache suggestive of pituitary tumour
  • Family history of delayed puberty / hirsutism + virilisation
  • History of chemotherapy / radiotherapy
56
Q

What examinations should be performed for primary ammenorhoea?

A
  • Weight and height for age
  • Stage of breast / pubic + axillary hair development
  • Features of Turners syndrome
  • External genitalia - haematocolpos + exclude the presence of testes within the inguinal canal / labia.
  • no indication for pelvic examination in women who are not sexually active. Determine presence of ovaries / uterus / vagina using trans-abdominal ultrasound scan*
57
Q

What Ix for primary ammorhoea?

A

Pelvic USS - ?uterus

Next steps depend of prescence/absence of uteru

MRCOG Gynaecology Part 2 Revision - Hay (44 decks)

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