17 beta-hydroxysteroid dehydrogenase deficiency with minimal virilization and spontaneous reduction of serum androgens to normal female levels.

The testosterone biosynthesis defect, 17 beta-hydroxysteroid dehydrogenase deficiency, is generally characterized by marked virilization at puberty of children raised as females. We describe an unusual case with a persistent female body habitus presenting with primary amenorrhoea and mild facial hirsutism. Whilst awaiting gonadectomy, serum androgen concentrations were observed to fall spontaneously to within the adult female reference ranges. Location of the gonads was a problem and was finally achieved by magnetic resonance imaging.

Management of Caesarean delivery in the presence of a large pelvic vascular malformation.

Caesarean section is associated with significant cardiovascular disturbances. We present a patient known to have a large pelvic arteriovenous malformation who underwent elective Caesarean section. To assist in the monitoring and management of the anticipated haemodynamic changes a flow directed pulmonary artery catheter with the capacity to allow continuous cardiac output measurement was used.

Prenatal diagnosis of glutathione synthase deficiency.

Prenatal diagnosis for glutathione synthase (EC 6.3.2.3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 mumol/l compared with the normal mean value of 29 mumol/l (range 13-51 mumol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.

The obstetric and neonatal outcome of pregnancy in women with a previous history of infertility: a prospective study.

OBJECTIVE: To compare the frequency of common antenatal problems, the amount of antenatal surveillance and the obstetric and neonatal outcome in women with and without a history of infertility. DESIGN: A prospective cohort study with age and parity matched controls. SETTING: A single consultant unit at the Jessop Hospital for Women, Sheffield, over a 22-month period. SUBJECTS: 114 women with a history of infertility who reached 16 weeks gestation with a singleton live fetus and 114 control women matched for age and parity. MAIN OUTCOME MEASURES: Frequency of antepartum complications, amount of antepartum surveillance, obstetric and neonatal outcome. RESULTS: Common antenatal complications were not increased. In the infertility compared with the control group, the relative risk of requiring an emergency caesarean section was 2.43 (95% CI 1.05-5.63). There was no difference in birthweight. CONCLUSION: Many of the previously observed differences in outcome of pregnancy in women after infertility compared with those without are associated with age and parity but these characteristics do not explain the increased frequency of emergency caesarean section.

Screening for lupus anticoagulant and anticardiolipin antibodies in women with fetal loss.

Sixty six women with first or second trimester fetal loss were investigated for the presence of lupus anticoagulant by routine coagulation tests and the dilute Russell's viper venom time with a platelet neutralisation procedure, and for raised anticardiolipin antibodies by an enzyme linked immunosorbent assay. Of 35 women with recurrent fetal loss, seven were positive for lupus anticoagulant and six had increased IgG anticardiolipin antibodies, while of 31 women with only one or two episodes of fetal loss, one had lupus anticoagulant and none increased IgG anticardiolipin antibodies. These findings were significantly different. There was no difference in the incidence of increased IgM anticardiolipin antibodies between the two groups (three and two cases, respectively). A further 11 women with intrauterine death in the third trimester were studied and lupus anticoagulant and raised IgM anticardiolipin antibodies were found in one case. No woman was known to have systemic lupus erythematosus. It is concluded that lupus anticoagulant and increased IgG anticardiolipin antibodies are independently associated with recurrent first and second trimester fetal loss and that such cases should be investigated, even in the presence of otherwise good health, by a comprehensive methodological approach.

A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms of karyotype/phenotype correlation.

An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.

A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.

Does cervical ripening with PGE2 affect subsequent uterine activity in labour?

Uterine activity was measured quantitatively during subsequent labor after prostaglandin E2 gel (PGE2). Thirty primigravidae with a low Bishop score were included in this randomized double-blind study. Fewer women who received PGE2 required subsequent surgical induction. The pattern of uterine activity was different. Cervical dilatation was achieved with less uterine activity in the PGE2 group, especially during the shorter latent phase.

Perceptions of labour: discrepancies between midwives' and patients' ratings.

Women's ratings of their experience of childbirth were compared with midwives' ratings of the women's experience. The midwives' ratings were significantly different from those of their patients. Midwives presented a more positive picture of the woman's experience than did the woman herself. Furthermore, the women reported using psychoprophylactic techniques for controlling discomfort for significantly more of the time than the midwives reported that the women used such techniques. The results are discussed in the context of similar findings reported in the literature.

Acute fatty liver of pregnancy.

Six further cases of acute fatty liver of pregnancy are presented and discussed in relation to the world literature on this rare disease of pregnancy, the aetiology of which is still unknown. The importance of vomiting in late pregnancy is emphasized. A common feature seems to be a metabolic stress, possibly related to infection, which tips a susceptible liver into metabolic failure.

Long-term effects of cyproterone acetate on the pituitary adrenal axis in adult women.

Function of the pituitary-adrenal axis was assessed in 16 adult female patients who had been taking cyproterone acetate for greater than 1 year. Some evidence of reduced basal cortisol output was seen in 25% of the patients, but plasma cortisol levels could be stimulated both by hypoglycaemia and by direct corticotrophin (ACTH) stimulation. The latter effect was confirmed by analysis of steroid excretion in urine although basal excreation rates indicated extensive adrenal suppression. These results suggest that cyproterone acetate does have some glucocorticoid activity which is able partially to suppress the pituitary--adrenal axis, but leaves it still responsive to stress.