Primary and Secondary Amenorrhoea
Definition
Amenorrhoea is the absence of menstrual periods, classified as primary (failure to initiate menses) or secondary (cessation after onset)
Primary amenorrhoea is defined as no menses by age 16 with normal growth and secondary sexual characteristics or no menarche within 5 years of breast budding
Secondary amenorrhoea is defined as no menses for 3 months in women with regular cycles or 6 months in those with irregular cycles
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Primary Amenorrhoea
Evaluate if no secondary sexual characteristics are present by age 14 to rule out delayed puberty
Differential diagnoses include congenital anomalies such as Müllerian agenesis, androgen insensitivity syndrome, imperforate hymen and hypogonadotrophic hypogonadism
Consider genetic causes and endocrine disorders based on detailed family and medical history
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Secondary Amenorrhoea
Common causes include polycystic ovary syndrome, hypothalamic dysfunction from stress, significant weight loss or excessive exercise and hyperprolactinaemia
Other aetiologies to consider are thyroid disorders, premature ovarian failure and medication effects
A detailed history should assess changes in menstrual pattern and any associated systemic symptoms
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Investigations
Exclude pregnancy with a Beta-hCG test as the initial step
Hormonal evaluation including FSH, LH, estradiol, prolactin and TSH to assess ovarian and pituitary function
Bone age assessment via wrist X-ray to detect advanced skeletal maturation indicative of increased hormonal activity
Pelvic ultrasound to evaluate uterine and ovarian development and identify congenital anomalies
Consider a GnRH stimulation test to differentiate between central and peripheral causes and perform chromosomal analysis if genetic abnormalities are suspected
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Management
For central amenorrhoea, GnRH analogues (eg, leuprolide) can be used to suppress premature gonadotropin release
In secondary amenorrhoea, treatment is directed at the underlying cause with lifestyle modifications, medical therapy for thyroid or prolactin disorders and use of combined oral contraceptives or insulin sensitisers for PCOS
Anatomical abnormalities may require surgical intervention
Psychological counselling is important to support children and families dealing with early pubertal changes
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Notes
Early evaluation and timely intervention are crucial to optimise adult height, prevent premature epiphyseal closure and support normal growth
A comprehensive history including parental heights, family pubertal timing and relevant systemic illnesses is essential for distinguishing normal variants from pathological conditions
Regular follow-up and monitoring of growth parameters, bone age and pubertal progression allow for appropriate adjustment of treatment
A multidisciplinary approach involving paediatric endocrinologists, gynaecologists and mental health professionals improves long-term outcomes
Consider the influence of immunisation schedules and public health guidelines on pubertal timing in overall assessment