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m4 obgyn > Primary amenorrhea > Flashcards

Primary amenorrhea Flashcards

1
Q

Definition of primary amenorrhea

A

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

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2
Q

Causes of primary amenorrhea

A

!!!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

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3
Q

Terminology: Hypogonadotropic hypogonadism

A

Problem lies with the hypothalamus/pituitary resulting in a decrease hormones produced by the ovaries

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4
Q

Kallman’s syndrome

A

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

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5
Q

What symptom to ask for pituitary causes of primary amenorrhea?

A

Hyperprolactinemia symptoms
- Amenorrhea
- Galactorrhea
- Headaches
- ?Infertility
- ?Decreased libido

For pit tumours:
+ Bitemporal hemianopia
+ LOW/LOA

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6
Q

Terminology: Hypergonadotropic hypogonadism

A

Problem lies with the ovaries resulting in decreased hormones produced; nothing wrong with hypothalamus & pit

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7
Q

Turner’s syndrome

A

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

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8
Q

Treatment of Turner’s syndrome

A

Puberty is induced by estradiol initially, followed by maintenance of secondary sexual characteristics with oestrogen/progestin (man-made progesterone) combination
Genetic counselling: infertility

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9
Q

Androgen insensitivity syndrome

A

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

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10
Q

Physical examination findings in AIS patients

A
  • 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
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11
Q

Treatment of AIS

A
  • 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
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12
Q

Imperforate hymen

A

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

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13
Q

Physical findings of imperforate hymen

A

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

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14
Q

Treatment of imperforate hymen

A

Cruciate Incision of hymen + Hymenectomy
-> relieves the hematocolpos and restoration of normal menstrual bleeding

Screen for other malformations
- Horseshoe kidney
- Bicornuate uterus

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15
Q

Transverse vaginal septum

A
  • 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

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16
Q

Mullerian agenesis

A

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

17
Q

History taking for primary amenorrhea

A

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

18
Q

Investigation for primary amenorrhea

A
  1. 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

19
Q

Management of hyperprolactinemia

A

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

20
Q

PEs for primary amenorrhea

A

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

21
Q

Signs of pregnancy on speculum examination

A

Engorged, purplish cervix

m4 obgyn (41 decks)

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