Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c.719del in the StAR gene, which was diagnosed after acute adrenal insufficiency when the patient was 10 days old. The patient did not undergo spontaneous puberty, so puberty was induced by HRT when the patient was 13 years old. At the age of 25 years, the patient was referred to our reproductive unit because she desired to conceive. An initial cycle of clomiphene, stimulation produced follicular growth with two mature follicles measuring 18 and 15 mm, respectively, but the plasma oestradiol levels remained low (18 pg/ml) and the endometrium was thin (3 mm). Pregnancy was finally achieved after ovarian stimulation, IVF and transfer of frozen-thawed embryos after endometrial preparation with HRT. A normal female child was delivered following a 40 weeks' uneventful pregnancy. We therefore report the first IVF pregnancy achieved in a 46,XX CLAH patient homozygous for a StAR mutation, with inadequate ovarian steroidogenesis and no spontaneous puberty.

Aim:To report fertility status perception, fertility preservation and desire to have children in French cancer survivors 2 and 5 years after diagnosis.Methods:A total of 427 women and 115 men self-reported treatment-induced infertility, fertility status, access to gamete conservation, desire to have children and pregnancy/live births.Results:A total of 96.5% of men and 92.9% of women were thought to be fertile at diagnosis and 38% desired to have children. A total of 57.8% of men and 67.4% of women declared that no fertility preservation had been discussed before treatment. After 2 years, 26.8% of patients still desired to have children. After 5 years, 18 live births have been reported.Conclusion:Despite a legal obligation and technical progress, there is a lack of information given to patients.

Background The benefit of arterial revascularization in coronary surgery remains controversial. The incremental value of additional grafts to the left internal thoracic artery (ITA) has been mainly assessed according to the number of arterial grafts, possibly limiting the detection of its actual impact. We analyzed the influence of the number of distal arterial anastomoses (DAA) performed on late mortality in patients having received from one to three arterial grafts. Methods Retrospective review of 3685 primary isolated coronary artery bypass grafting (CABG) performed from 1989 to 2014 was conducted with a 13-year mean follow-up. One arterial graft (SITA) was used in 969 patients, two arterial grafts, ITA or gastroepiploic artery (GEA), in 1883 patients (BITA: 1644; SITA+GEA: 239), and three arterial grafts in 833 patients (BITA+GEA). Totally, 795 patients (22%) received one DAA, 1142 patients (31%) two, 1337 patients (36%) three, and 411 patients (11%) four or more. A sub-group analysis was done in the 2104 patients with 3-vessel disease who received at least 2 arterial grafts. Results In this series the early mortality was 1.6% and it was not influenced by the surgical technique. Late mortality was significantly influenced by age, gender, heart failure, LV ejection fraction, diabetes status, complete revascularization, number of arterial grafts, number of DAA, both ITA, sequential ITA graft, GEA graft. In multivariable analysis with Cox regression model, the number of DAA was the only technical significant independent prognosis factor of late survival (p < 0.0001), predominant over both ITA, complete revascularization and number of arterial grafts. The impact of the number of DAA on survival was found discriminant from 1 to 3; after 3 there was no more additional effect. In 3-vessel disease patients who received at least 2 arterial grafts, the number of DAA remained a significant independent prognosis factor of late survival (p < 0.0001). Conclusions The number of distal arterial anastomoses is an independent predictor of long-term survival, predominant over the number of arterial grafts and the completeness of the revascularization; higher the number, better the late survival. It is a strong support of the extensive use of arterial grafting in CABG.

Background There is still ongoing debate about the benefits of mini-thoracotomy (MTH) approach in mitral valve surgery in comparison with complete sternotomy (STER). This study aims to update the current evidence with mortality as primary end point. Methods The MEDLINE and EMBASE databases were searched through June 2022. Two randomized studies and 16 propensity score matched studies published from 2011 to 2022 were included with a total of 12,997 patients operated on from 2005 (MTH: 6467, STER: 6530). Data regarding early mortality, stroke, reoperation for bleeding, new renal failure, new onset of atrial fibrillation, need of blood transfusion, prolonged ventilation, wound infection, time-related outcomes (cross clamp time, cardiopulmonary bypass time, ventilation time, length of intensive care unit stay, length of hospital stay), midterm mortality and reoperation, and costs were extracted and submitted to a meta-analysis using weighted random effects modeling. Results The incidence of early mortality, stroke, reoperation for bleeding and prolonged ventilation were similar, all in the absence of heterogeneity. However, the sub-group analysis showed a significant OR in favor of MTH when robotic enhancement was used. New renal failure (OR 1.67, 95% CI 1.06–2.62, p = 0.03), new onset of atrial fibrillation (OR 1.31, 95% CI 1.15–1.51, p = 0.001) and the need of blood transfusion (OR 1.77, 95% CI 1.39–2.27, p = 0.001) were significantly lower in MTH group. Regarding time-related outcomes, there was evidence for important heterogeneity of treatment effect among the studies. Operative times were longer in MTH: differences in means were 20.7 min for cross clamp time (95% CI 14.9–26.4, p = 0.001), 36.8 min for CPB time (95% CI 29.8–43.9, p = 0.001) and 37.7 min for total operative time (95% CI 19.6–55.8, p < 0.001). There was no significant difference in ventilation duration; however, the differences in means showed significantly shorter ICU stay and hospital stay after MTH compared to STER: − 0.6 days (95% CI − 1.1/− 0.21, p = 0.001) and − 1.88 days (95% CI − 2.72/− 1.05, p = 0.001) respectively, leading to a significant lower hospital cost after MTH compared to STER with difference in means − 4528 US$ (95% CI − 8725/− 326, p = 0.03). The mid-term mortality was significantly higher after STER compared to MTH: OR = 1.50, 1.09–2.308 (95% CI), p = 0.01; the rate of mid-term reoperation was reported similar in MTH and STER: OR = 0.76, 0.50–1.15 (95% CI), p = 0.19. Conclusions The present meta-analysis confirms that the MTH approach for mitral valve disease remains associated with prolonged operative times, but it is beneficial in terms of reduced postoperative complications (renal failure, atrial fibrillation, blood transfusion, wound infection), length of stay in ICU and in hospitalization, with finally a reduction in global cost. MTH approach appears associated with a significant reduction of postoperative mortality that must be confirmed by large randomized study.

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