Primary amenorrhea Flashcards
Primary amenorrhoea
Is defined as not starting menstruation: Never had menstruation before
Normal puberty times in boys & girls
Puberty starts age 8 – 14 in girls and 9 – 15 in boys.
The order of pubertal changes in girls
Breast buds, then pubic hair, and menstrual periods about two years from the start of puberty.
Hypogonadism
Refers to a lack of the sex hormones, oestrogen and testosterone, that normally rise before and during puberty.
A lack of these hormones causes a delay in puberty.
Hypogonadotropic hypogonadism
A deficiency of LH and FSH
Hypergonadotropic hypogonadism
A lack of response to LH and FSH by the gonads (the testes and ovaries)
Causes of Hypogonadotropic hypogonadism
- Hypopituitarism
2 Damage to the hypothalamus or pituitary, - Significant chronic conditions (e.g. cystic fibrosis or inflammatory bowel disease)
- Excessive exercise or dieting
- Constitutional delay in growth and development
- Endocrine disorders
- Kalman syndrome
What can cause damage to the pituitary gland and hypothalamus?
By radiotherapy or surgery for cancer
Significant chronic conditions can temporarily delay puberty; give examples?
e.g. cystic fibrosis or inflammatory bowel disease
Constitutional delay in growth and development
Is a temporary delay in growth and puberty without underlying physical pathology
Endocrine disorders that cause Hypogonadotropic hypogonadism and thus primary amenorrhea
Growth hormone deficiency, hypothyroidism, Cushing’s disease or hyperprolactinaemia
Hypergonadotropic Hypogonadism
Is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).
Causes of Hypergonadotropic Hypogonadism
- Previous damage to the gonads
- Congenital absence of the ovaries
- Turner’s syndrome (XO)
Kallmann syndrome
A genetic condition causing hypogonadotrophic hypogonadism, with failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).
Congenital Adrenal Hyperplasia
Caused by a congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth.
It is a genetic condition inherited in an autosomal recessive pattern. In a small number of cases, it involves a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.
Features of Congenital Adrenal Hyperplasia in females
Tall for their age Facial hair Absent periods (primary amenorrhoea) Deep voice Early puberty
Androgen Insensitivity Syndrome
A condition where the tissues are unable to respond to androgen hormones (e.g. testosterone), so typical male sexual characteristics do not develop.
It results in a female phenotype, other than the internal pelvic organs. Patients have normal female external genitalia and breast tissue. Internally there are testes in the abdomen or inguinal canal, and an absent uterus, upper vagina, fallopian tubes and ovaries.
Structural pathology that can cause primary amenorrhoea
- Imperforate hymen
- Transverse vaginal septae
- Vaginal agenesis
- Absent uterus
- Female genital mutilation
How does structural pathology in the pelvis organs prevent menstruation?
If the ovaries are unaffected, there will be typical secondary sexual characteristics, but no menstrual periods. There may be cyclical abdominal pain as menses build up but are unable to escape through the vagina.
What investigations are done in primary amenorrhea?
- Full blood count and ferritin
- U&E
- Anti-TTG or anti-EMA antibodies
- FSH and LH
- Thyroid function tests
- Insulin-like growth factor
- Prolactin
- Testosterone
Why are full blood counts and ferritin tested in primary amenorrhea?
for anaemia
Why are Anti-TTG & anti-EMA antibodies tested in primary amenorrhea?
for coeliac disease