Adolescent gynaecology

Question 1

Pubertal Delay

Answer 1

–Absence of pubertal development by 13 years

Question 2

Primary Amenorrhoea

Answer 2

–Absence of menses at 15 years with normal growth and secondary sexual characteristics

–or >3 years from thelarche

Question 3

Secondary Amenorrhoea

Answer 3

Cessation of menses for greater than 6 months or 3 cycles

Question 4

Menarche

When does it occur?

Answer 4

occurs after the peak in growth velocity has passed
Australian average 13yrs (range 9-17)
95% between 11-15yrs

Question 5

What influences the timing of puberty?

Answer 5

influenced by
genetics (family history of early puberty)

geographic location (close to equator, low altitude, urban living = earlier)

health & nutrition (obese girls have earlier puberty. Under-weight or over-exercisers may be delayed)

vision (blind girls have earlier menarche ?melatonin)

Timing of puberty influences regulation of menses via maturation of hypothalamic-pituitary-ovarian axis (earlier onset regulates earlier, later onset may take 3-5 years to regulate)

Question 6

What is congential adrenal hyperplasia?

Answer 6

An autosomal recessive disorder that is characterised by a deficiency in corticosteroid production pathway in the adrenal
90% 21- hydroxylase deficiency.
2nd most common 11B hydroxylase

17 hydroxyprogesterone are then shunted to the production of androgens

Question 7

How is congential adrenal hyperplasia diagnosed?

Answer 7

High 17 hydroxyprogesterone

Synthetic ACTH can be given and cortisol and 17 OHP measured

Question 8

What is the immediate concern in CAH?

Answer 8

If cortisol and corticosterone pathways are deficient then the risk is a salt wasting crisis - needs immediate hydrocortisone

Question 9

How does CAH present

Answer 9

Virilised female

Can have late onset and have virilization at puberty - can present like PCOS

Question 10

AIS
Androgen insensitivity syndrome
(complete and partial)

What is it?
How common is it?
What is the inheritance?

how to diagnose?

Answer 10

There is an abnormality of androgen receptors and testosterone cannot be detected
1:40-60 000
X linked inheritance

XY chromosome,
absent or incomplete virilization of external genitalia
AMH is produced so no internal female organs

Complete - Normal female appearance and primary amenorrhoea

Partial - range of phenotypes
can be a female infant with bilateral inguinal hernias

Question 11

5 a reductase deficiency
What is it?
What is the pathophysiology?

How to treat?

Answer 11

Lack of enzymes that convert Testosterone to dihydrotestosterone

Phenotype: female or ambiguous
Virilization during puberty

Can measure the 5a reductase activing in skin fibroblasts

Management
if female - remove testes before puberty
If male - OT to treat hypospadias
Psychosexual counselling 
genetic counselling

Question 12

What other organ system to image if a pt has uterine anomaly ?

Answer 12

renal tract

50% associated renal malformations like agenesis, renal duplications or ectopy

Question 13

What does MRKH stand for?
What does it mean?

Incidence?

Associations?

Answer 13

Mayer Rokitasnky Kuster Hauser syndrome

Absent or rudimentary uterus or bilaterla horns on either side of the pelvic sidewall

1:4-6 000

Present with primary amenorrhoea, normal secondary sexual characteristics and normal FSH and LH
short vagina
renal and skeletal anomalies

Question 14

What is the commonest gynae problem of young girls?

What are the causes?

Answer 14

Vulvovaginitis

Infectious agents;
most common Group A haemolytic streptococcus and haemophillis influenzae

Threadworm is possible and can be noctural perianal itching

Candida is rare (low eostrogen) but be related to nappies, diabetes, antibiotics

STIs indicate abuse
Gardernella maybe an STI of may not be

Question 15

Why are young girls prone to vulvovaginitis??

Answer 15

Thin vaginal mucosa
Alkaline pH
Absence of vulval fat pads
Absence of pubic hair
Close proximity vagina to anus
Poor hygiene

Question 16

labial adhesions
What is the incidence

When does it occur
WHy does it occur?

Answer 16

1-3% of the population

not present at birth - incidence year 1&2 of life

Low oestrogen / local inflammation
- scratching removed top surface of skin then it agglutinates

Question 17

How to manage labial adhesions?

Answer 17

If asymptomatic then do nothing
They resolve spontanously with puberty
Can use local oestrogen - daily for 6 weeks
(side effects include breast swelling vaginal spotting)
surgical separation - rare

recurrence common after hormonal or surgical tx

Question 18

Prepubertal lichel sclerosis

When does it resolve?
Incidence?
Risk factors?

Management?

Answer 18

1:900
Resolves with puberty

Risks: autoimmune disease
infection
local trauma

Treat with potent corticosteroid until remission then a maintenance

Question 19

When was DES used?

Why was it used?

Answer 19

Diethylstilboestrol (DES) is a synthetic oestrogen prescribed from the 1940’s to the 1980’s to reduce the
risk of a miscarriage, premature labour and other pregnancy complications. Although the efficacy of DES
was questioned in a 1953 report, the drug continued to be prescribed until the 1980’s.

Over 10 million people were exposed to DES worldwide. Of these, over 4 million women were exposed in utero. Approximately 10,000 of these women were in Australia.

Question 20

What are the risks for DES mothers?

Answer 20

The DES mother has a 30% increased risk of developing breast cancer and
breast cancer related death. (1.27X baseline population risk) DES mothers should have regular health checks, in particular breast
screening

Question 21

What are the risks for DES daughters?

How should they be followed up?

Answer 21

DES mothers should be encouraged to inform their children who had in utero exposure to DES

increased risk of breast cancer - mixed data - US study says 1.8 after 40

rare vaginal and cervical clear cell adenocarcinoma
(CCA) - typically Dx stage 1 or 2, survival 80-90%,
risk for a DES daughter of developing this is 1.5/1000 or 40X baseline population risks
peak 15-25 years old

Typically large ectopions are larger areas of immature metaplasia - 2.28X rate of VIN and CIN
Vaginal adenosis

Reproductive tract abnormalities - 70%
T shaped cavity , hypoplastic uterus, endometrial adhesions
25% cervical malformations - hypoplastic, cervical hood collar, polyps
Pregnancy complications: Subfertility, miscarriage PTB still birth ectopic pregnancy, PET

DES daughters should have a lifetime annual gynaecological examination consisting of a general examination, colposcopic inspection of the lower
genital tract, cervical co-test (HPV and LBC test) and bimanual examination to detect any vaginal induration. Documentation of reproductive tract structural
abnormalities should be noted.

DES daughters should have regular breast examination and screening as is recommended for all women.

Question 22

What are the risk for DES sons?

Answer 22

increased risk of testicular abnormalities (epididymal cysts, hypogonadism, undescended testes) but not testicular cancers or fertility problems.

Question 23

What about DES grandchildren?

What FU?

Answer 23

DES third generation do not require any additional specific follow up.
However long term follow-up should be considered in the absence of any
specific data for this cohort
These women should be screened with a Cervical Screening Test (CST) every 5 years. However, if these women have concerns, testing similar to that
recommended for their DES-exposed mothers could be considered on an individual basis.

Question 24

Definition of precocious puberty

Answer 24

Precocious puberty is the onset of pubertal development at an age that is 2 to 2.5 standard deviations (SD) earlier than population norms.

In most populations, attainment of pubertal milestones approximates a normal distribution, with a mean age of onset of puberty of approximately 10.5 years in girls and 11.5 years in boys (figure 1A-B) and an SD of approximately one year [1-9].

Question 25

Causes of precocious puberty

Answer 25

Causes

Idiopathic 75% 
CNS problem (GnRH dependant) 7% 
Ovarian tumours 11% 
McCune-Albright syndrome 5% (GnRH independent - receptor mutation) 
Adrenal feminising 1% 
Adrenal masculinizing 11% 
Ectopic gonadotropins 0.5%

Question 26

What do you get with McCune-Albright

and what is it?

Answer 26

Mosaic G protein signally mutation

Precocious puberty
Cafe au lait spots
multiple endocrine abnormalities

Question 27

What conditions result in XY chromosomes and F external genitalia or ambiguous gentialia

Answer 27

Female
AIS

ambigous
5 alpha reductase deficiency

Question 28

What conditions have a XX chromosome but male or virilized gentialia

Answer 28

CAH

Question 29

What conditions cause female external genitalia with no female internal gentitalia

Answer 29

MRKH or AIS

Question 30

Transverse vaginal septum

Answer 30

A transverse vaginal septum results when there is failure of fusion and/or canalization of the urogenital sinus and Müllerian ducts, which occurs in approximately 1 in 30,000 to 1 in 80,000 women. These septa may be located at various levels in the vagina; reports vary widely regarding distribution by location, including 6 to 46 percent in the upper vagina, 22 to 40 percent in the middle portion, and 15 to 72 percent in the lower vagina
The septa are generally less than 1 centimeter in thickness and may have a small central or eccentric perforation. \
text books say occurs in the

Question 31

Pure Gonal Dysgensis

Answer 31

46XX , delayed puberty, bilateral streak gonads, normal female internal genitalia, normal or tall stature, 10% XY

assoc renal and cardiac abnormalities

30% will have gonadal tumour by age 30 if Y present

Question 32

What is swyer syndrome?

Answer 32

XY gonadal dysgenesis

female external + internal genitalia
functionless / streak gonads
do not go through puberty

Tx HRT

Question 33

What is froehlich sydrome

Answer 33

Froehlich syndrome is characterized by increased or excessive eating that leads to obesity, small testes, and a delay in the onset of puberty. It is also common for children with Froehlich syndrome to experience the delay in physical growth and the development of secondary sexual characteristics. In addition to delayed growth and puberty, children with this syndrome tend to be short in stature.