PRIMARY AMENORRHŒA

The ætiological factors responsible for primary amenorrhœa were defined in 43 patients on the basis of clinical examination, chromosome studies, endocrine assays and findings at laparoscopy. Monosomy of the X chromosome (Turner's syndrome and Turner's mosaicism) was the commonest cause (33%). Clinical features of short stature, poor breast development, physical stigmata and infantile vulva were characteristic of Turner's syndrome and Turner's mosaicism. Satisfactory breast development, a common feature of testicular feminization and congenital absence of the vagina, was associated with sparse or absent body hair and a cul‐de‐sac vagina in the former, and with normal body hair and a vaginal dimple in the latter. Chromosomal analysis was used to define three major groups of patients — those with 45X0 (pure or mosaic forms), those with normal 46XX, and those with 46XY and female phenotype. Endocrine studies revealed a mean urinary œstrogen excretion level of less than 6 μg/24 hours in patients with Turner's syndrome and Turner's mosaicism, ovarian agenesis and hypogonadotrophic hypogonadism, while higher levels (10 to 20 μg/24 hours) were obtained In those with congenital absence of the vagina, polycystic ovaries and testicular feminization. Gonadotropin activity, measured by bioassay, was less precise in the assessment of the underlying disorder. Diagnostic laparoscopy provided a prompt and accurate assessment of the internal genitalia, and was particularly useful when infertility was a problem. It was the means of definitive diagnosis in the case of patients with ovarian agenesis and polycystic ovaries. The greatest diagnostic difficulty was encountered in patients with delayed menarche — the presence of breast development and an œstrogen level above 20 μg/24 hours would usually indicate imminent menarche.