Adolescent gynae Flashcards
Differential diagnoses for primary amenorrhoea in adolescents?
Gonadal dysgenesis Mullerian agenesis Constitutional delay PCOS GnRH deficiency - ideopathic (genetic) or aquired (stress, eating disorder, athlete) Other CNS disease Endocrine: Pituitary disease Adrenal disease Thyroid dysfunction Androgen insensitivity syndrome
Initial investigations for primary amenorrhoea?
BLOODS
Hormone panel (LH, FSH, Estrodiol, Progesterone, Testosterone, Prolactin)
Others: DHEAs, 17-OH, Sex hormone binding globulin, TFTs, ELTs
Karyotype
Imaging:
x-ray wrist bone age
Pelvic US
MRI pelvis/brain
What does 1st line COCP contain?
Levenorgestrel
Brand name of Norethisterone
Primolut
Brand name of Medroxyprogesterone
Provera
Ethical process for genetic disorder sterilisation
Need Family Court of Australia approval
– Takes ~12-24 months, Costly
– Need to have exhausted all other options
• Convention of Geneva Reproductive Rights of Persons with Disabilities 2007
Percentage (typical use, perfect use) of unintended pregnancy within 1st year of use for: No method Fertility awareness Male condom Female diaphragm COCP POP Depot Provera Cu IUD Mirena Implanon Female sterilisation Vasectomy
No method 85/85 Fertility awareness 24/0.4-5 Male condom 18/2 Female diaphragm 12/6 COCP 9/0.3 POP 9/0.3 Depot Provera 6/0.2 Cu IUD 0.8/0.2 Mirena 0.2/0.2 Implanon 0.05/0.05 Female sterilisation 0.5/0.5 Vasectomy 0.15/0.1
UKMEC criteria for comorbid conditions
Cat 1 - no restriction on use
Cat 2 - Advantages outweigh risks
Cat 3 - risks outweigh benefits, need specialis to prescribe this contraception with this condition
Cat 4 - Unacceptable health risk if method used with condition
17 years sexually active on COCP 12 months with no problem now complains
of vaginal spotting, BHCG negative. What next?
a) add 1.25 mg conjugated oestrogen to pill
b) change to higher dose oestrogen pill
c) change to higher dose progesterone pill
d) swab for genital tract infection
d) swab for genital tract infection
An 18 yr old girl presents with primary amenorrhoea, no breast development
and scant pubic hair. Examination shows normal vagina and vulva with a
hypoplastic cervix and uterus. The karyotype is 46 XY. The most likely
diagnosis is:
a) pure gonadal dysgenesis
b) androgen insensitivity
c) Noonan’s syndrome
d) CAH
a) pure gonadal dysgenesis
46XX
Delayed puberty, bilateral streak gonads, normal female internal genitalia, normal or tall stature, Associated renal and cardiac abnormalities, 30% will have gonad tumor by 30 if Y present
Androgen insensitivity have normal breasts and no uterus/cavity
A normal looking 10 yr old girl (normal size and height) found to have a
dimple introitus, short vagina and absent uterus on exam and ultrasound.
Most helpful Ix?
a) karyotype
b) testosterone
c) 17 OH progesterone
A) Karyotype
Will help distinguish differentials:
MRKH (46XX)
SWYER (46XY, no puberty)
Complete AIS (46XY)
Commonest cause of precocious puberty in girls is:
a) CAH
b) Ovarian
c) Adrenals
d) Tumours
e) Idiopathic
e) idiopathic 75%
<8yo often growth spurt first sign followed by breast development and pubic hair
5x more common in females
CNS (GnRH dependant) 7%
Ovarian tumors 11%
Mcune albright syndrome 5%
Which of the following causes of primary amenorrhoea have spontaneous ovulation? a) Androgen Insensitivity Syndrome b) Turners syndrome c) Swyer syndrome d) Uterovaginal agenesis e) Congenital adrenal hyperplasia
d) Uterovaginal agenesis
AIS is without ovaries 46XY
Turners have gonadal dysgenesis unless mosacism
Swyer - male gonads must be removed
CAH - picked up in earlier adolescence
You are performing a laparotomy for a ruptured right ectopic pregnancy in a 17 yo. A 10cm right ovarian cyst is noted. Left ovary appears normal. Optimal management is: a) RSO b) Aspiration of cyst c) Cystectomy d) Cystectomy and biopsy of other ovary e) R oopherectomy
c) cystectomy
Most likely corpus luteum (physiological)
Right pregnancy and right cyst
Ovulation cannot be induced in which of the following conditions:
a) Galactosemia
b) PCOS
c) Hyperprolactinaemia
d) Kallman’s syndrome
a) galactosaemia
Autosomal recessive disorder.
Toxic effect on germ cell migration
PCOS - Clomide
Hyperprolactinaemia - suppress pituitary with bromocriptine or cerbagoline
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. X-linked. This disorder is a form of hypogonadotropic hypogonadism. LH and FSH deficiency, failure of migration of gonadortrophin migration, picked up early can stimulate for ovarian growth
Regarding androgen insensitivity, which is correct?
a) testosterone is less than in a normal male
b) it is X linked recessive
c) the risk of dysgerminoma is high before 20 yo
d) the testes should be removed as soon as the diagnosis is made
b) it is X linked recessive Humanandrogen receptor is a protein encoded by a gene located on the proximal long arm of the X chromosome Phenotype female Genotype male Maternal x-linked recessive
low dysgerminoma risk compared to other gonadal dysgenesis
A child is born with ambiguous genitalia. What is the first test to perform?
a) U and E’s
b) Karyotype
c) Choose girl’s name
d) Check corticosteroids
A) U&Es
Likely CAH
Exclude salt wasting
Karyotype and corticosteroids later
14 yo bought by mother because of lack of periods. Which will be most helpful in establishing diagnosis? a) Tanner stage 3 breast development b) Mild obesity c) Waist:hip ratio 0.6 d) Acanthosis nigricans
a) Tanner stage 3 breast development
Delayed puberty = absence of secondary characteristics by 14yo or absence of menache by 16yo with secondary characteristics
Most females acheive menache closer to tanner stage 4
3 major categories
- Hypergonadotropic hypogonadism or gonadal failure
- Hypogonadotrophic hypogonadism
- physiologic or constitutional felay
Regarding 21 hydroxylase deficiency, incorrect option
a) gene on chromosome 6
b) causes 5% of hirsutism
c) raised DHEAS
d) dexamethasone suppression test to definitively diagnose condition
d) dexamethasone suppression test to definitively diagnose condition
Late onset CAH secondary to 21Hydroxylase def
autosomal reccessice defects on chromosome 6
elevated 17 OK progesterone (measure first in morning) if levels 200-800 –> require ACTH testing
Levels >800 are virtually diagnostic
A, B and C correct
DHEAS level raised, unlikely diagnostic
A 160 cm normotensive 15 yo girl has been progressively virilized since age 7.
Now shaving face regularly. OE clitoromegaly, posterior scrotal fusion, cervix
present, no adnexal masses, tanner 2 breast, amenorrhoeic. Karyotype most
likely to be:
a) XX
b) XX/XY
c) XO
d) XXY
e) XY
a) XX
Late onset CAH with normal karyotype
Typical presentation, secondary virulisation (older children)
A tall eunachoid 18 yo girl is found to have 46 XY karyotype. OE sparse pubic
and axillary hair, tanner stage 2 breasts, normal vagina and vulva, hypoplastic
cervix and uterus. Likely cause of intersex disorder:
a) true gonadal dysgenesis
b) true hermaphrodite
c) testicular feminisation / AIS
a) true gonadal dysgenesis
Pure gonadal dysgenesis have streak gonads - diagnosed early in adolescence with delayed pubertal development, elevated gonadotrophines, normal female levels of androgens
Commonly due to SWYER syndrome
Risk of gonadal tumours
Testicular femminisation would not have normal vagina or cervix/uerus
The following are all causes of precocious puberty except:
a) astrocytoma
b) Frolich’s syndrome
c) Neurofibromatosis
b) Frolich’s syndrome
Rare autosomal disorder - delayed puberty, small testes, obesity, affects mostly males
CNS lesions can lead to precocious puberty
A baby with pure gonadal dysgenesis with karyotype 46 XY will have as a phenotype: a) ambiguous genitalia b) infantile female c) atrophic testis in inguinal canal
b) Infantile female
Pure gonadal dysgenesis refers to 46XX or 46XY females who have streak gonads and normal mullerian structures. XY Dont produce AMH, dont have testosterone, wolffian duct regress
May occur sporadically or may be inherited as an autosomal recessive trait or as an X-linked trait in XY gonadal dysgenesis affected girls (typically average height and no stigmata)
13 yo girl presents with heavy menstrual bleeding for 6 months. What is the next most appropriate step? a) combined OCP b) hysteroscopy, D& C c) cyclical progesterone d) coagulation profile e) expectant management
d) coagulation profile
then OCP or progesterone
Hysteroscopy almost never indicated
