Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1% of women. In majority of cases the underlying cause is not identified. The known causes include: (a) Genetic aberrations, which could involve the X chromosome or autosomes. A large number of genes have been screened as candidates for causing POF; however, few clear causal mutations have been identified. (b) Autoimmune ovarian damage, as suggested by the observed association of POF with other autoimmune disorders. Anti-ovarian antibodies are reported in POF by several studies, but their specificity and pathogenic role are questionable. (c) Iatrogenic following surgical, radiotherapeutic or chemotherapeutic interventions as in malignancies. (d) Environmental factors like viral infections and toxins for whom no clear mechanism is known. The diagnosis is based on finding of amenorrhoea before age 40 associated with FSH levels in the menopausal range. Screening for associated autoimmune disorders and karyotyping, particularly in early onset disease, constitute part of the diagnostic work-up. There is no role of ovarian biopsy or ultrasound in making the diagnosis. Management essentially involves hormone replacement and infertility treatment, the only proven means for the latter being assisted conception with donated oocytes. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation hold promise in cases where ovarian failure is foreseeable as in women undergoing cancer treatments.

INTRODUCTIONIn 1973 SUBJECTS AND METHODSAfter we obtained informed consent, we consecutively studied 123 healthy subjects belonging to the following 6 distinct groups: physicians and nurses, who were studied both in the winter and in the summer (n = 11 men and 8 women); soldiers (n = 31 men); depigmented persons (n = 10 men and 5 women; 9 with vitiligo universalis and 6 with albinism); pregnant women belonging to a poor socioeconomic class (n = 29; annual income < 30 000 rupees/y); and the newborn children of the pregnant women (n = 29). Subjects were evaluated clinically to rule out metabolic bone disease, chronic hepatic and renal disorders, and other vitamin and mineral deficiencies. Subjects taking vitamin and mineral supplementation or any drugs or sunscreens were excluded.Three groups were studied in the winter: the soldier group, the depigmented group, and the physician and nurse group, and 3 groups were studied in the summer: the pregnant group, the newborn group, and the physician and nurse group. The physician and nurse group was studied in both winter and summer to evaluate the effect of seasonal variation on vitamin D status.

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The diagnosis of premature ovarian failure is based on the finding of amenorrhoea before age 40 associated with follicle-stimulating hormone levels in the menopausal range. Screening for associated autoimmune disorders and karyotyping, particularly in early onset disease, constitute part of the diagnostic work up. There is no role for ovarian biopsy or ultrasound in making the diagnosis. Management essentially involves hormone replacement and infertility treatment, the most successful being assisted conception with donated oocytes. Embryo cryopreservation, ovarian tissue or oocyte cryopreservation and in vitro maturation of oocytes hold promise in cases where ovarian failure is foreseeable as in women undergoing cancer treatments.

Objective To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome.Design Retrospective notes review.Setting Tertiary referral centre for disorders of sex development.Population A total of 29 adult women with Swyer syndrome.Methods Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility.Main outcome measures Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size.Results With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0-55 years). The median age at gonadectomy was 18 years (range 9-33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54-1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy.Conclusion Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape.