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11th April 2024
Primary Amenorrhoea
Primary Amenorrhoea is defined as the failure of the onset of menses by the age of 15 in the presence of secondary sexual characteristics or by the age of 13 in the absence of secondary sexual characteristics.
| Causes of primary amenorrhoea | Features |
|---|---|
| Anatomical abnormalities in Mullerian development | Normal secondary sexual characteristics
Examples include: imperforate hymen; Mayer-Rokitansky-Kuster-Hauser syndrome; |
| 5-alpha reductase deficiency | Genetically male with female-appearing genitalia or genital ambiguity |
| 17-hydroxylase deficiency | In females, this is a non-virilising congenital adrenal hyperplasia (CAH) |
| Partial 21-hyrdroxylase deficiency | The most common cause of CAH and results in virilisation. |
| Flow Volume | Normal as determined by the patient |
| Genetic primary hypogonadism | Distinguished by the absence of or poorly defined secondary sexual characteristics
Turner syndrome, Klinefelter syndrome (XY, distinguished by anosmia), Kallman syndrome |
| Type 1 autoimmune polyglandular syndrome (APS-1) | Rare, recessively inherited auto-immune condition characterised by the triad of chronic mucocutaneous moniliasis, hypoparathyroidism, and Addison’s disease.
Sequelae include ovarian failure, which may present as primary amenorrhoea or infertility. |
| Complete androgen insensitivity syndrome | XY, phenotypically female
Usually diagnosed after puberty, though may be diagnosed in those with prepubescent bilateral inguinal hernias (due to testes in the inguinal canal) |
| Non-classic congenital adrenal hyperplasia | Clitoromegaly and clinical hyperandrogenism |
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