Obs and Gynae Flashcards
Define primary amenorrhoea
Not starting menstruation:
By 13 years when there is no other evidence of pubertal development
By 15 years of age where there are other signs of puberty, such as breast bud development
What is hypogonadism?
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.
What are the two types of hypogonadism?
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)
Give three causes of hypogonadotropic hypogonadism.
Hypopituitarism (under production of pituitary hormones)
Damage to the hypothalamus or pituitary, for example, by radiotherapy or surgery for cancer
Significant chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
Excessive exercise or dieting can delay the onset of menstruation in girls
Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
Endocrine disorders such as growth hormone deficiency, hypothyroidism, Cushing’s or hyperprolactinaemia
Kallman syndrome
Give three causes of hypergonadotropic hypogonadism
Previous damage to the gonads (e.g. torsion, cancer or infections such as mumps)
Congenital absence of the ovaries
Turner’s syndrome (XO)
What causes congenital adrenal hyperplasia?
Congenital adrenal hyperplasia is caused by a congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth.
What is the pattern in congenital adrenal hyperplasia?
It is a genetic condition inherited in an autosomal recessive pattern.
How does congenital adrenal hyperplasia present?
In severe cases, the neonate is unwell shortly after birth, with electrolyte disturbances and hypoglycaemia. In mild cases, female patients can present later in childhood or at puberty with typical features:
Tall for their age
Facial hair
Absent periods (primary amenorrhoea)
Deep voice
Early puberty
What is androgen insensitivity syndrome?
Androgen insensitivity syndrome is a condition where the tissues are unable to respond to androgen hormones (e.g. testosterone), so typical male sexual characteristics do not develop.
How does androgen insensitivity syndrome present?
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. Primary amenorrhoea
How do we investigate primary amenorrhoea?
Initial investigations assess for underlying medical conditions:
Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease
Hormonal blood tests assess for hormonal abnormalities:
FSH and LH will be low in hypogonadotropic hypogonadism and high in hypergonadotropic hypogonadism
Thyroid function tests
Insulin-like growth factor I is used as a screening test for GH deficiency
Prolactin is raised in hyperprolactinaemia
Testosterone is raised in polycystic ovarian syndrome, androgen insensitivity syndrome and congenital adrenal hyperplasia
Genetic testing with a microarray test to assess for underlying genetic conditions:
Turner’s syndrome (XO)
Imaging can be useful:
Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
Pelvic ultrasound to assess the ovaries and other pelvic organs
MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
How do we manage hypogonadotropic hypogonadism?
Pulsatile GnRH can be used to induce ovulation and menstruation. This has the potential to induce fertility. Alternatively, where pregnancy is not wanted, replacement sex hormones in the form of the combined contraceptive pill may be used to induce regular menstruation and prevent the symptoms of oestrogen deficiency.
Define secondary amenorrhoea
Secondary amenorrhea is defined as no menstruation for more than three months after previous regular menstrual periods. Consider assessment and investigation after three to six months. In women with previously infrequent irregular periods, consider investigating after six to twelve months.
Give three causes of secondary amenorrhoea
Pregnancy is the most common cause
Menopause and premature ovarian failure
Hormonal contraception (e.g. IUS or POP)
Hypothalamic or pituitary pathology
Ovarian causes such as polycystic ovarian syndrome
Uterine pathology such as Asherman’s syndrome
Thyroid pathology
Hyperprolactinaemia
Give three stresses that could lead to secondary amenorrhoea
The hypothalamus reduces the production of GnRH in response to significant physiological or psychological stress. This leads to hypogonadotropic hypogonadism and amenorrhoea. The hypothalamus responds this way to prevent pregnancy in situations where the body may not be fit for it, for example:
Excessive exercise (e.g. athletes)
Low body weight and eating disorders
Chronic disease
Psychological stress
Give two pituitary causes of secondary amenorrhoea
Pituitary tumours, such as a prolactin-secreting prolactinoma
Pituitary failure due to trauma, radiotherapy, surgery or Sheehan syndrome
How does high prolactin impact GnRH release, and what does this lead to?
High prolactin levels act on the hypothalamus to prevent the release of GnRH. Without GnRH, there is no release of LH and FSH. This causes hypogonadotropic hypogonadism. Only 30% of women with a high prolactin level will have galactorrhea (breast milk production and secretion).
How do we investigate secondary amenorrhoea?
Detailed history and examination to assess for potential causes
Hormonal blood tests
Ultrasound of the pelvis to diagnose polycystic ovarian syndrome
Which hormone tests would we use in secondary amenorrhoea?
Beta human chorionic gonadotropin (HCG) urine or blood tests are required to diagnose or rule out pregnancy.
Luteinising hormone and follicle-stimulating hormone:
High FSH suggests primary ovarian failure
High LH, or LH:FSH ratio, suggests polycystic ovarian syndrome
Prolactin can be measured to assess for hyperprolactinaemia, followed by an MRI to identify a pituitary tumour.
Thyroid stimulating hormone (TSH) can screen for thyroid pathology. This is followed by T3 and T4 when the TSH is abnormal.
Raise TSH and low T3 and T4 indicate hypothyroidism
Low TSH and raised T3 and T4 indicate hyperthyroidism
Raise testosterone indicates polycystic ovarian syndrome, androgen insensitivity syndrome or congenital adrenal hyperplasia.
How do we reduce risk of endometrial cancer in PCOS patients?
Women with polycystic ovarian syndrome require a withdrawal bleed every 3 – 4 months to reduce the risk of endometrial hyperplasia and endometrial cancer. Medroxyprogesterone for 14 days, or regular use of the combined oral contraceptive pill, can be used to stimulate a withdrawal bleed.
What is premenstrual syndrome?
Premenstrual syndrome (PMS) describes the psychological, emotional and physical symptoms that occur during the luteal phase of the menstrual cycle, particularly in the days prior to the onset of menstruation. These symptoms can be distressing and significantly impact quality of life.
Give five symptoms of PMS
Low mood
Anxiety
Mood swings
Irritability
Bloating
Fatigue
Headaches
Breast pain
Reduced confidence
Cognitive impairment
Clumsiness
Reduced libido
How do we manage PMS in primary care?
General healthy lifestyle changes, such as improving diet, exercise, alcohol, smoking, stress and sleep
Combined contraceptive pill (COCP)
SSRI antidepressants
Cognitive behavioural therapy (CBT)
How do we diagnose PMS?
Diagnosis is made based on a symptom diary spanning two menstrual cycles. The symptom diary should demonstrate cyclical symptoms that occur just before, and resolve after, the onset of menstruation.