Primary Amenorrhoea Flashcards
Define primary amenorrhoea.
Not starting menstruation either:
By 13 years when there is no other evidence of pubertal development
Or
By 15 years of age where there are other signs of puberty
When does puberty start in girls?
8-14
When does puberty start in bodys?
9-15
How long does puberty tend to last from start to finish?
4 years§
Describe the order of puberty in girls.
- Development of breast buds
- Development of pubic hair
- Menarche
What is hypogonadism?
Lack of sex hormones (oestrogen and testosterone) that normally rise before and during puberty.
A lack of sex hormones is fundamentally potentially due to what two things?
- Hypogonadotropic hypogonadism
2. Hypergonadotroic hypogonadism
What is hypogonadotropic hypogonadism?
A deficiency of LH and FSH
What is hypergonadotropic hypogonadism?
A lack of response to LH and FSH by the gonads (testes and ovaries)
What are potential causes of hypogonadotrophic hypogonadism?
- Hypopituitarism (underproduction of pituitary hormones)
- Damage to hypothalamus or pituitary (e.g. radiotherapy or surgery for cancer)
- Significant chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or IBD)
- Excessive exercise or dieting can delay onset
- Constitutional delay in growth and development
- Endocrine disorders (e.g. growth hormone deficiency, hypothyroidism, Cushing’s, hyperprolactinaemia)
- Kallman syndrome
What is constitutional delay in growth and development?
Temporary delay in growth and puberty without underlying physical pathology.
What are possible causes of hypergonadotropic hypogonadism?
- Damage to gonads (e.g. torsion, cancer, infections like mumps)
- Congenital absence of ovaries
- Turner’s syndrome (XO)
What is Kallman syndrome? What symptom is it associated with?
A genetic condition causing hypogonadotrophic hypogonadism, with failure to start puberty.
It is associated with a reduced or absent sense of smell (anosmia).
What causes congenital adrenal hyperplasia?
Congenital deficiency of 21-hydroxylase enzyme (sometimes 11-beta-hydroxylase).
This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth.
How is congenital adrenal hyperplasia inherited?
Autosomal recessive pattern.
How does congenital adrenal hyperplasia present in severe cases?
Neonate unwell shortly after birth, with electrolyte disturbances and hypoglycaemia.
How does congenital adrenal hyperplasia present in mild cases?
Female patients present in childhood or at puberty with typical features (tall for age, facial hair, absent periods, deep voice, early puberty).
What is androgen insensitivity syndrome?
Condition where tissues are unable to respond to androgen hormones (e.g. testosterone) so typical male sexual characteristics do not develop.
This results in female phenotype (other than internal pelvic organs).
Patients have normal female external genitalia and breast tissue, but internally there are testes in the abdomen or inguinal cancer, and an absent uterus, upper vagina, fallopian tubes and ovaries.
Describe what symptoms may be experiences by patients with structural pathology being the cause of primary amenorrhoea.
Cyclical abdominal pain as menses build up but are unable to escape through vagina.
List 5 structural pathologies which can cause primary amenorrhoea.
- Imperforate hymen
- Transverse vaginal septae
- Vaginal agenesis
- Absent uterus
- Female genital mutilation
What is the threshold for initiating investigations into primary amenorrhoea?
No evidence of pubertal changes in a girl aged 13. Investigation can also be considered when there is some evidence of puberty but no progression after two years.
When assessing primary amenorrhoea, why might you do a FBC and ferritin?
To look for anaemia
When assessing primary amenorrhoea, why might you do a U&E?
To look for chronic kidney disease
When assessing primary amenorrhoea, why might you do an anti-TTG or anti-EMA?
To look for antibodies for coeliac disease
