Adolescent gynaecology Flashcards
Pubertal Delay
–Absence of pubertal development by 13 years
Primary Amenorrhoea
–Absence of menses at 15 years with normal growth and secondary sexual characteristics
–or >3 years from thelarche
Secondary Amenorrhoea
Cessation of menses for greater than 6 months or 3 cycles
Menarche
When does it occur?
occurs after the peak in growth velocity has passed
Australian average 13yrs (range 9-17)
95% between 11-15yrs
What influences the timing of puberty?
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)
What is congential adrenal hyperplasia?
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
How is congential adrenal hyperplasia diagnosed?
High 17 hydroxyprogesterone
Synthetic ACTH can be given and cortisol and 17 OHP measured
What is the immediate concern in CAH?
If cortisol and corticosterone pathways are deficient then the risk is a salt wasting crisis - needs immediate hydrocortisone
How does CAH present
Virilised female
Can have late onset and have virilization at puberty - can present like PCOS
AIS
Androgen insensitivity syndrome
(complete and partial)
What is it?
How common is it?
What is the inheritance?
how to diagnose?
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
5 a reductase deficiency
What is it?
What is the pathophysiology?
How to treat?
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
What other organ system to image if a pt has uterine anomaly ?
renal tract
50% associated renal malformations like agenesis, renal duplications or ectopy
What does MRKH stand for?
What does it mean?
Incidence?
Associations?
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
What is the commonest gynae problem of young girls?
What are the causes?
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
Why are young girls prone to vulvovaginitis??
Thin vaginal mucosa Alkaline pH Absence of vulval fat pads Absence of pubic hair Close proximity vagina to anus Poor hygiene
labial adhesions
What is the incidence
When does it occur
WHy does it occur?
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
How to manage labial adhesions?
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
Prepubertal lichel sclerosis
When does it resolve?
Incidence?
Risk factors?
Management?
1:900
Resolves with puberty
Risks: autoimmune disease
infection
local trauma
Treat with potent corticosteroid until remission then a maintenance
When was DES used?
Why was it used?
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.
What are the risks for DES mothers?
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
What are the risks for DES daughters?
How should they be followed up?
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.
What are the risk for DES sons?
increased risk of testicular abnormalities (epididymal cysts, hypogonadism, undescended testes) but not testicular cancers or fertility problems.
What about DES grandchildren?
What FU?
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.
Definition of precocious puberty
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].
