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Introduction: Hereditary leiomyomatosis and renal cell cancer (HLRCC) constitute a tumor susceptibility syndrome caused by germline mutations in the fumarate hydratase (FH) gene. The most common features are leiomyomas of the uterus and the skin. The syndrome includes a predisposition to early‐onset, aggressive renal cell cancer. It is important to identify women with HLRCC among other uterine leiomyoma patients in order to direct them to genetic counseling and to identify other affected family members. Material and methods: We conducted a nationwide historical study to identify typical clinical characteristics, uterine leiomyoma morphology, and immunohistochemistry for diagnosing HLRCC. The study included 20 women with a known FH germline mutation and 77 women with sporadic uterine leiomyomas. The patient records of all women were reviewed to obtain clinical details regarding their leiomyomas. Uterine leiomyoma tissue specimens from 43 HLRCC‐related leiomyomas and 42 sporadic leiomyomas were collected and prepared for histology analysis. A morphologic description was performed on hematoxylin & eosin‐stained tissue slides, and immunohistochemical analysis was carried out for CD34, Bcl‐2, and p53 stainings. Results: The women with HLRCC were diagnosed with uterine leiomyomas at a young age compared with the sporadic leiomyoma group (mean 33.8 years vs. 45.4 years, P < 0.0001), and their leiomyomas occurred as multiples compared with the sporadic leiomyoma group (more than four tumors 88.9% vs. 30.8%, P < 0.0001). Congruently, these women underwent surgical treatment at younger age compared with the sporadic leiomyoma group (mean 37.3 years vs. 48.3 years, P < 0.0001). HLRCC leiomyomas had denser microvasculature highlighted by CD34 immunostaining when compared with the sporadic leiomyoma group (112.6 mean count/high‐power field, SD 20.8 vs. 37.4 mean count/high‐power field, SD 21.0 P < 0.0001) and stronger anti‐apoptotic protein Bcl‐2 immunostaining when compared with the sporadic leiomyoma group (weak 4.7%, moderate 44.2%, strong 51.2% vs. 26.2%, 52.4%, 21.4%, respectively, P = 0.003). No differences were observed in p53 staining. Conclusions: Women with HLRCC may be identified through the distinct clinical characteristics: symptomatic and numerous leioymyomas at young age, and morphologic features of FH‐mutant leiomyomas, aided by Bcl‐2 and CD34 immunohistochemistry. Further, distinguishing individuals with a germline FH mutation enables proper genetic counseling and regular renal monitoring. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Earlier studies have shown that maternal hormone secretion during late first or second trimester may be affected by gravidity. We examined the luteoplacental hormone secretion during 5-11 weeks of gestation in relation to gravidity. Method Forty-one naturally conceived pregnancies underwent weekly assessment of serum human chorionic gonadotrophin, progesterone and 17-OH progesterone, estradiol, testosterone, and pregnancy-associated plasma protein A levels. In addition, the volume and the vasculature of the dominant ovary with corpus luteum were assessed with the use of a 3-dimensional power Doppler ultrasonography. Areas under the curve for hormonal and ultrasonographic parameters were calculated. Results Twenty-two out of the 41 women were pregnant for the first time. All the pregnancies were uncomplicated and resulted in term deliveries of appropriately grown newborns. During pregnancy weeks 5-11, the secretion (area under the curve) of human chorionic gonadotrophin (6.54 ± 0.03 vs 6.39 ± 0.05, p = 0.010), progesterone (3.49 ± 0.02 vs 3.36 ± 0.03, p = 0.003), and 17-OH progesterone (2.73 ± 0.03 vs 2.62 ± 0.03, p = 0.013) were higher in primigravid than in multigravid women. No other differences were detected between primigravid and multigravid women. Conclusion The placental function already differs between primigravid and multigravid women during the first weeks of pregnancy, which reflects the corpus luteal function. © 2012 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]