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PRIMARY AMENORRHOEA
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KEY POINTS When to start evaluation for primary amenorrhoea?
By age 15 if there are normal secondary sexual characters By age 13 if there is failure to initiate breast development (Trend for earlier age at menarche and 2 standard deviations above the mean - ASRM Guidelines)
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Causes ASRM classifies primary amenorrhoea into following groups:
With breast development No breast development and FSH No breast development and FSH With signs of virilisation
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Evaluation of primary amenorrhoea
History Focused Clinical examination Select and interpret appropriate diagnostic tests and imaging
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Primary amenorrhoea Present Absent Uterus absent Uterus present 46XX
Breast development Present Absent USG Uterus absent Uterus present Karyotype Check outflow tract 46XX Mullerian agenesis 46XY AIS Abnormal Imperforate hymen Tr vaginal septum Cx/Vaginal agenesis Normal Constitutional delay PCOS
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Breast development Poor / Absent
Primary amenorrhoea Breast development Poor / Absent FSH High FSH Low FSH Karyotyping Prolactin Prolactinomas Other CNS lesions Kallman’s synd Stress/wt loss Anorexia Constitutional delay PCOS 46XO Turner syndrome 46XX Gonadal dysgenes 46XY Swyer’s syndrome
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Primary amenorrhoea 46XY 46XO/46XX 46XX
Virilising features Karyotype 46XY Incomplete AIS 5 reductase deficiency 46XO/46XX Mixed gonadal dysgenesis 46XX Cong adrenal hyperplasia PCOS Adrenal / ovarian tumours
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