Sexual Health - Primary Amenorrhoea

Question 1

What is primary amenorrhoea?

Answer 1

Not starting menstruation
- By 13 no evidence of pubertal development
- By 15 where there are other signs of puberty such as breast bud development

Question 2

When does puberty start in girls and boys?

Answer 2

Girls
8-14

Boys
9-15

Girls have pubertal growth spurt earlier than boys

Question 3

What is hypogonadism?

Answer 3

Lack of sex hormones, oestrogen and testosterone

Normally rise before and during puberty

Lack of these hormones cause a delay in puberty

Question 4

What causes hypogonadism?

Answer 4

Hypogonadotropic hypogonadism
- Deficiency of LH and FSH

Hypergonadotropic hypogonadism
- Lack of response to LH and FSH by gonads

Question 5

What is hypogonadotropic hypogonadism?

Answer 5

Deficiency of LH and FSH

LH and FSH produced by anterior pituitary gland in response to GnRH

No gonadotrophins stimulating ovaries, so no oestrogen

Question 6

What causes a deficiency of LH and FSH?

Answer 6

• Hypopituitarism
• Damage to the hypothalamus or pituitary, surgery or radiotherapy
• Significant chronic conditions e.g. CF and IBD
• Excessive exercise or dieting
• Constitutional delay
• Endocrine disorders e.g. GH deficiency
• Kallman syndrome

Question 7

What is hypergonadotropic hypogonadism and what causes it?

Answer 7

Gonads fail to respond to stimulation from LH and FSH

No negative feedback from oestrogen causes high levels of LH and FSH

• Previous gonad damage, torsion, cancer or infections e.g. mumps
• Congenital absence of ovaries
• Turner’s syndrome XO

Question 8

What is Kallman syndrome?

Answer 8

Genetic condition causing hypogonadotropic hypogonadism

Associated with anosmia

Question 9

What causes congenital adrenal hyperplasia?

Answer 9

Autosomal recessive, deficiency of 21-hydroxylase enzyme causing:
- Underproduction of cortisol and aldosterone
- Overproduction of androgens

Small number of people there is a deficiency of 11-beta-hydroxylase instead

Question 10

How do patients with congenital adrenal hyperplasia present?

Answer 10

Tall for their age
Facial hair
Absent periods
Deep voice
Early puberty

Severe cases, neonate is unwell shortly after birth with electrolyte disturbances and hypoglycaemia

Question 11

What is androgen insensitivity syndrome?

Answer 11

Condition where tissues unable to respond to androgen hormones so typical male sexual characteristics do not develop

Female phenotype, other than internal pelvic organs

Patients have normal female external genitalia and breast tissue, absent uterus, upper vagina, fallopian tubes and ovaries

Question 12

What structural pathology can prevent menstruation?

Answer 12

Imperforate hymen
Transverse vaginal septae
Vaginal agenesis
Absent uterus
FGM

May be cyclical abdominal pain as menses build up but unable to escape through vagina

Question 13

What initial investigations are used to assess primary amenorrhoea?

Answer 13

FBC and ferritin for anaemia
U&Es for CKD
Anti-TTG or anti-EMA for coeliacs

Question 14

What hormonal blood tests are used for primary amenorrhoea?

Answer 14

FSH and LH
TFTs
IGF-1 for GH deficiency
PRL
Testosterone in PCOS

Question 15

What condition is screened for with genetic testing?

Answer 15

Turner’s syndrome

Question 16

What imaging is used for primary amenorrhoea?

Answer 16

Wrist Xray, assess bone age and diagnose constitutional delay

Pelvic USS

MRI of brain

Question 17

How is primary amenorrhoea managed?

Answer 17

TREAT UNDERLYING CAUSE

Replacement hormones can induce menstruation and improve symptoms

Patients with constitutional delay may only need reassurance and observation

Cause due to stress or low BMI, treatment involves stress reduction, CBT and healthy weight gain

Hypogonadotrophic hypogonadism
Pulsatile GnRH to induce ovulation and menstruation
COCP may be used

Ovarian cause
COCP