Primary amenorrhea Flashcards
Definition of primary amenorrhea
Absence of menarche before 16yo
- Due to disruption of HPO or anatomical abnormalities of reproductive tract
- Start investigating if no development of 2’ sexual characteristics by 14 year old
Causes of primary amenorrhea
!!!TRO PREGNANCY (esp ECTOPICS)
Hypothalamus
- Systemic stresses (excessive exercise, significant weight loss (anorexia/bulimia), emotional stress, chronic illness)
- Kallman’s syndrome
- Neoplasms
Pituitary
- Prolactinoma
- Hyperprolactinemia secondary to pituitary adenoma, drugs, primary hypothyroidism, breast feeding, PCOS (Prolactin suppresses FSH and LH)
Ovary
A. Gonadal agenesis
B. Gonadal dysgenesis
- Turner’s syndrome
C. Pseudohermaphroditism
- Androgen insensitivity syndrome
Anatomical abnormalities (normal FSH, LH)
- Cervical agenesis
- Imperforate hymen
- Transverse vaginal septum
- Mullerian agenesis
Constitutional delay of puberty (FHx present): Dx of exclusion
Terminology: Hypogonadotropic hypogonadism
Problem lies with the hypothalamus/pituitary resulting in a decrease hormones produced by the ovaries
Kallman’s syndrome
Hypothalamic-pituitary failure
- Failure of GnRH secretion
- Low FSH, low LH, low estradiol
- Presents with primary amenorrhea
- Poorly developed breasts and 2’ sexual characteristic
- Anosmia is a pathognomonic feature
- Isolated hypogonadotropic hypogonadism (other ant pit hormones are normal)
- Treatment: GnRH or hormone replacement
What symptom to ask for pituitary causes of primary amenorrhea?
Hyperprolactinemia symptoms
- Amenorrhea
- Galactorrhea
- Headaches
- ?Infertility
- ?Decreased libido
For pit tumours:
+ Bitemporal hemianopia
+ LOW/LOA
Terminology: Hypergonadotropic hypogonadism
Problem lies with the ovaries resulting in decreased hormones produced; nothing wrong with hypothalamus & pit
Turner’s syndrome
Chromosomal defect: Only ONE X chromosome = 45, X0
- Hypergonadotropic hypogonadism
- Low estradiol, High FSH, High LH
- Low set ears, low posterior hairline
- Colour blindness
- Neck webbing, broad chest, widely spaced nipples
- Wide carrying angle (cubitus valgus)
- Short stature
- Coarctation of aorta
- Short metatarsals
- Horseshoe kidney
- Streak ovaries
- Thickened nuchal translucency
- Risk of hypothyroid, type I DM
Treatment of Turner’s syndrome
Puberty is induced by estradiol initially, followed by maintenance of secondary sexual characteristics with oestrogen/progestin (man-made progesterone) combination
Genetic counselling: infertility
Androgen insensitivity syndrome
Chromosomally normal (46 XY) males develop as females
Due to X-linked recessive mutation in the AR gene causing non-functional androgen receptor protein
- Phenotypically female BUT gonads are male
- Male levels of testosterone
- Normal FSH, raised LH, high testosterone
- Can be complete or partial
Physical examination findings in AIS patients
- Presence of female external genitalia
- Good breast development
- ABSENCE OF PUBIC HAIR and AXILLARY HAIR
- BLIND ENDING VAGINA
- Transvaginal U/S: NO UTERUS
- Note inguinal incisions where testes have been removed to prevent malignant transformation
Treatment of AIS
- Need to remove testes (gonads) once puberty is completed due to risk of cancer (Germ cell tumor - Dysgerminoma/ gonadoblastoma)
- Hormone replacement therapy needed
- Counselling: infertility, sexual status
Imperforate hymen
Failure of hymen to perforate during fetal development
- Severe cyclical (monthly) abdominal pain -> menses cannot be expelled out
- Severe pain can cause patient to have ARU
Physical findings of imperforate hymen
During time of pain (menses): - Vaginal bulge of thin hymen tissue with a bluish appearance which is the accumulated blood
- Menstrual blood cannot flow out, forming pelvic mass (hematocolpos)
- Midline cystic mass felt on DRE
+/- ARU
Treatment of imperforate hymen
Cruciate Incision of hymen + Hymenectomy
-> relieves the hematocolpos and restoration of normal menstrual bleeding
Screen for other malformations
- Horseshoe kidney
- Bicornuate uterus
Transverse vaginal septum
- Between upper 2/3 and lower 1/3 of vagina -> separates upper and lower vagina
- Menstrual blood cannot flow out, forming hematocolpos
+/- ARU
Tx: Requires surgical removal of septum
Mullerian agenesis
No fallopian tubes, uterus, cervix or vagina; ovaries present
- Clinically shallow or no vaginal openings observed
- CT urogram to check for kidney abnormalities
Tx: Passive dilatation of shallow vagina or reconstruction
History taking for primary amenorrhea
Biodata
Quantify amenorrhea duration
Pubertal status: thelarche (breast devt), pubarche (pubic hair)
TRO pregnancy, esp ectopic (ask sexual hx)
Associated symptoms
TRO differentials by HPO axis
Investigation for primary amenorrhea
- Urine pregnancy test!
Bloods
2. Amenorrhea panel:
FSH, LH, Prolactin, TSH
Estradiol, Testosterone
- Hypogonadotropic hypogonadism (hypothalamic & pituitary causes): low FSH, LH & E2
- Hypergonadotropic hypogonadism (primary ovarian causes): high FSH & LH, low E2
- Anatomical causes: normal FSH, LH & E2
3. Pituitary hormones: TFT, GH, ACTH, PRL (for hypothal-pit)
Imaging
4. Pelvic U/S
- assess uterine size: onset of puberty suggested by uterine corpus: cervix ratio of ≥ 2:1
- detect structural abnormalities of the reproductive tract & presence of gonads
5. MRI brain/pituitary gland if serum prolactin levels > 1000mlU/L (for hypothal-pit)
Others
6. Karyotyping, genetic studies
Management of hyperprolactinemia
Depends on cause:
- Dopamine agonists (i.e. bromocriptine, cabergoline) for hyperprolactinemia
- Thyroxine replacement for hypothyroidism
- Exogenous estrogen to induce breast development
- Surgical resection of tumors
PEs for primary amenorrhea
General:
- Inspection: blood pressure, height/weight/nutritional status, dysmorphism
- Pubertal assessment via tanner staging
-> differentiates between hypothal-pit, turner’s VS AIS, anatomical abnormalities
Systemic:
- Visual fields
- Breast exam
- Thyroid exam
Pelvic exam: obstructive abnormalities/ possible pregnancy
- External genitalia examination
- Speculum
Signs of pregnancy on speculum examination
Engorged, purplish cervix
