Primary amenorrhoea

Question 1

Outline history you would obtain

Answer 1

NAE
PC:

• Growth, breast and pubic hair development.
• Pain – e.g. cyclical
• Headache
• Visual changes
• Galactorrhoea
• Excessive exercise, weight loss, restrictive eating
• Thyroid symptoms – hot or cold intolerance
• Anosmia
• Chronology of pubertal changes
• Eating and exercise patterns, weight change
• Androgen excess

C - menarche
Sex - ? sexually active - HEADSSS assessment, ask to speak to patient without parent present
Smear
U
Obstetric – GP ABC
M
M
MSPF

• Medical conditions/chronic illness, thyroid dysfunction
• Head injury (hypothalamic/pituitary dysfunction)
• Family history – age of menarche/puberty
  
  • Age of menarche and menopause
  • Genetic disorders
  • Developmental delay

Meds/allergies - ? medications

ODASSS

• HEADDSS

DCP

Question 2

Ex

Answer 2

Exam:

General
BMI - height, weight
Vitals
Urine – bHCG
STBCR
Abdo
Nodes
Speculum – external genitalia, ? imperforate hymen
Bimanual
Androgen – acne, hirsutism
Tanner staging – breast development, pubic hair
Neuro – visual fields
Turner stigmata

Question 3

Ix

Answer 3

Swabs - not required

Bloods – bHCG, LH, FSH, oestradiol, PROLACTIN, TSH, karyotype, testosterone (for CAIS)

Urine – pregnancy test

Imaging – bone age X-ray (e.g. hand), MRI brain, USS pelvis to assess for structural issues (uterus, tubes, vagina)

General (initial approach):

• TA USS
• FSH, E2, TSH, prolactin
  
  • Subsequent Ix largely depend on presence of the uterus and FSH/E2 levels
• Karyotype if absent uterus or POI

Question 4

Risks/DDx

Answer 4

• If MRKH then needs renal USS/MRI abdo-pelvis

See four broad categories in image attached

Question 5

Define primary amenorrhoea

Answer 5

Question 6

Mx

Answer 6

General: MDT, gender identity.

Psychosocial support

Pubertal induction: transdermal oestradiol then POP; only use COCP if at risk of spontaneous ovulation/needs contraception. Continue until menopause.

Contraception: after pubertal induction.

Sexual function: vaginal dilators or surgical vaginoplasty.

Fertility (IVF, donor oocyte or embryo, surrogacy, adoption, childless): refer to fertility.

Risk of gonadoblastoma if 46XY: gonadectomy post-puberty.

Risk of CVD, osteoporosis:

• Endocrinologist. Normal BMI, weight-bearing exercises, stop smoking, minimise alcohol, DEXA, vitamin D, calcium, bisphosphonates, oestrogen HRT.
• GP. Regular Ht/Wt/BMI, abdo girth, BP, lipid profile, diabetes screening.
  *

Question 7

List the broad/umbrella etiology for primary amenorrhoea:

Answer 7

• Central: absent breast development, low FSH.
  
  • Constitutional
  • Chronic illness
  • Excessive exercise
  • Kallman’s syndrome
  • Panhypopituitarism
  • Abnormal CNS anatomy including tumours, hydrocephalus
  • Head injury
  • Prolactinoma
• Gonadal failure: absent breast development, high FSH.
  
  • Turner 45XO
  • Swyer 46XY
  • POI
  • Chemo- and radio-therapy
  • Galactosaemia
  • Autoimmune
  • Infections
• Arrested puberty: normal breast development, high FSH.
  
  • POI
  • CAIS 46XY
• Anatomical: normal breast development, normal FSH.
  
  • Absent uterus/MRKH
  • Obstructed menses: imperforate hymen, vaginal septum, vaginal agenesis cervical agenesis