A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype. 1. Introduction The average of age of the menopause is 50 years [1] with one percent of women menstruating after the age of 60 and one percent entering menopause before the age of 40. Hereditary and environmental (smoking habit) factors affect the age of the natural menopause. A menopause before the age of 40 is commonly defined as “premature ovarian failure” although this definition is arbitrary. Estimates of the prevalence of premature ovarian failure range between 0.3 and 1% and this condition accounts for 10–28% of women with primary amenorrhoea and 4–18% of women with secondary amenorrhoea [2] (Table 1). Table 1: Causes of premature ovarian failure. Some of the causes of POF listed above are extremely rare—particularly the genetic causes. For instance only a few women with FSH-receptor or LH-receptor mutations have ever been reported. In order to give an idea of how common various conditions are, here is a list of the causes of POF in women attending a specialist clinic at the Middlesex Hospital, London, UK (Table 2). Table 2: Causes of POF in women attending a specialist clinic at the Middlesex hospital, London, UK from [ 2]. 10 to 30% of women with POF already have a concurrent autoimmune disorder the most common of which is hypothyroidism. In the sequence of the most common autoimmune associations found in APSII, ovarian failure can occur at any stage. Thus, a history should include symptoms of Addison’s disease, hypothyroidism, and diabetes in particular with the rarer association of autoimmune arthitides and inflammatory bowel disease being kept in mind. Further, women with established POF should be monitored for the later appearance of these conditions. The only features of history which are helpful in determining aetiology of ovarian failure are positive a family history, a concurrent autoimmune disorder, or stigmata of one of the inherited conditions. In many instances a formal pedigree enquiry is required to determine other female family members who may be affected, particularly if the