Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature.

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

First-trimester uterine artery Doppler indices in term and preterm pre-eclampsia.

OBJECTIVES: To assess the relationship between first-trimester uterine artery Doppler measurements and the development of term and preterm pre-eclampsia. METHODS: This prospective study of uterine artery Doppler findings at 11-14 weeks in 3058 singleton pregnancies included 57 and 33 cases of term and preterm pre-eclampsia, respectively. RESULTS: The first-trimester uterine artery resistance index (RI) was significantly higher in women who subsequently developed preterm pre-eclampsia (mean RI, 0.79) than in those with a normal outcome (mean RI, 0.70; P = 0.0001) or those who developed pre-eclampsia at term (mean RI, 0.72; P = 0.002). There were no significant differences in first-trimester mean uterine artery RI (P = 0.136) or prevalence of bilateral notches (P = 0.459) between women who had a normal pregnancy outcome and those who developed pre-eclampsia at term. The receiver-operating characteristics curves for the prediction of term and preterm pre-eclampsia by uterine artery Doppler imaging demonstrated a significant association with development of preterm pre-eclampsia (P = 0.0001; area under the curve (AUC), 0.76; 95% CI, 0.66-0.86) but not term pre-eclampsia (P = 0.25; AUC, 0.54; 95% CI, 0.46-0.63). CONCLUSIONS: The uterine artery Doppler data in this study suggest that preterm pre-eclampsia is strongly associated with defective invasion of the spiral arteries, in contrast to the findings in term pre-eclampsia which may be a consequence of placental deterioration at term. Our study findings support, but do not prove, a rigid separation between the etiology of early- and late-onset pre-eclampsia. Although there is a strong relationship between first-trimester uterine artery Doppler indices and the subsequent development of preterm pre-eclampsia, our data do not support its routine introduction into clinical practice.