Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

Precious puberty, Primary amenorrhea Flashcards

(57 cards)

Start Studying
1
Q

What is precious puberty?

A

Pubertal development <8yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

Idiopathic
74% girls
40% boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the 2 main catergories of precious puberty?

A

GnRH-dependant (early activation of HPO axis)

GnRH-independant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

If evidence of hyperandrogenaemia, what tests should be ordered?

A

Testosterone
17-OH-poregesterone
DHEA

+/- ACTH stimulation test
?Mild form CAH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How many stages to the tanner scale?

A

5 stages
Breast development and pubic hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the most common cause of primary amenorrhoea?

A

Constitutional delay
Diagnosis of exclusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Describe LH/FSH pre-puberty?

A

Low circulating levels
FSH>LH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

45X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How common is turner syndrome?

Study These Flashcards
A

1 in 2000-3000 births

24
Q

Explain turners syndrome

Study These Flashcards
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
What happens is turners syndrome occurs due to mosaics 45X/46XX
Mosaics 45X or 46XX → Fewer anatomical, 20% sufficient oestrogen to menstruate Can also occur due to Xp deletions
26
Treatment turners
Growth hormone in childhood Sex hormone replacement in adolescent
27
Names causes of hypothalamic hypogonadism in females
Genetic: Kallmans syndrome Idiopathic secondary hypogonaism Acquired Hypperprolactinaemia Pituitary dysfunction (tumour, surgery, trauma, infection) Eating disorder (Malnutrition) Excessive exercise Drugs Obesity Chronic conditions
28
Describe Kallmans syndrome
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
Where is prolactin excreted from?
Anterior pituitary gland - lactotroph cells
30
Effect of prolactin on GnRH?
Inhibits GnRH, high prolactin = Hypogonadotrophic Hypogonadism
31
What hormone inhibits the release of prolactin? Stimulates release?
Dopamine inhibits Thyrotopin releasing hormone
32
Causes of high prolactin?
Physiological (pregnancy) Pituitary adenoma (lactotroph cells) Hypothyroidism (high TRH) Medications (Dopamine antagonist, oestrogens) Damage to hypothalamic pituitary stalk - trauma, nearby tumour, surgery
33
Symptoms of high prolactin in women
Galactorhoea Amennhoroea Headache, impaired vision Men → Gynaecomastia/erectile dysfunction
34
Ix high prolactin
Pregnancy test MRI head
35
Treatment prolactinoma
Domapine agonist - cabergoline, bromocriptine
36
List some gonadal/adrenal causes of primary amenorrhoea
- 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
Why does congenital adrenal hyperplasia occur?
Overgrowth of adrenal glands due to lack of steroid producing enzyme
38
What is the most common enzyme deficient in CAH?
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
Second most common enzyme deficiency in CAH?
11B hydroxylase definicency Similar to 21 hydroxylase but also have hypertension due to high 11 deoxycoriticosterone (acts like a weaker aldoestetone)
40
The 3rd most common deficiency in CAH 17a-hydroxylase deficincy, how does it present?
Low cortisol and testosterone → poorly developed genitals High aldosterone precursors → High Na, Low K, HTN
41
Draw table for 21, 11b and 17a hydrolase deficiency and differences in androgen, aldosterone and cortisol
42
List causes of abnormal end organs response
Mullerian aplasia - Mayer-Rokitanksky-Kuster-Hause syndrome Androgen insensitivity syndrome 5 alpha reductase deficiency Vaginal atresia
43
What is the 1st and 2nd most common cause of primary ammenorhoea in adolescents?
1 Turner 2 MRKH syndrome
44
What would find on clinical examination of a person with Mayer–Rokitansky–Kuster–Hauser syndrome?
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
What would be seen on USS for a person with Mayer–Rokitansky–Kuster–Hauser syndrome?
Absence of uterus and fallopian tunes Normal ovaries May have urinary tract abnormality
46
What would be seen hormone profile for a person with Mayer–Rokitansky–Kuster–Hauser syndrome?
Normal
47
What would be found on examination of a person with androgen insensitivity syndrome?
Present after puberty Normal breast development Absent/scanty pubic/axillary hair, short blind-ending vagina, absent uterus/cervix
48
Karotype of person with androgen insensitivity syndrome?
XY genotype (male), produce androgens but insensitivity to the hormone Can be complete, partial or mild
49
What would be found on USS for patient with androgen insensitivity syndrome?
Testes within abdomen/inguinal canal - cryptorchdism
50
What would be found on hormone profile for androgen insensitivity syndrome?
Testosterone - male range (excess testosterone covered into oestrogen) Oestrogen between male and female range LH levels raised FSH in normal male range
51
Effect of cryptorchdism, how should this be managed?
High risk of testicular cancer Gonadectomy after puberty + oestrogen replacement therapy
52
What is the effect of 5 alpha reductase deficiency? How is it inherited?
5alpha reductase converts testosterone to the more potent or dihydrotestosterone Autosomal recessive
53
How does 5 alpha reductase deficiency present?
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
How does vaginal atresia present?
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
What questions should be asked in Hx for primary amenorrhoea?
* 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
What examinations should be performed for primary ammenorhoea?
* 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
What Ix for primary ammorhoea?
Pelvic USS - ?uterus Next steps depend of prescence/absence of uteru

MRCOG Gynaecology Part 2 Revision - Hay (44 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions