Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

BACKGROUND: The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. OBJECTIVES: We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. RESULTS: We present the case of a 29-year-old MAS female, who had previously undergone a unilateral ovariectomy and was managed by in vitro fertilization (IVF). Eight oocytes with many morphological abnormalities were retrieved. The GNAS mutation was found at a low frequency in follicular cells. The ovarian histopathological examination showed developing follicles of all stages, strongly expressing AMH by immunohistochemistry. In addition, AMH was high (45.5 pmol/L) and the AMH / AFC ratio (5.69 pmol/L per follicle) was much higher than in PCOS and control groups (2.16, and 1.34 respectively). CONCLUSIONS: Ovarian and endometrial involvement can be responsible for infertility in MAS women. IVF and oophorectomy may be useful in management. The genetic characterization of the different tissues may have a prognostic utility. Moreover, we suggest that the AMH could be a marker of the ovarian activity in MAS. Further studies are needed to clarify the potential oocyte abnormalities and the risk of miscarriages in order to guide genetic counseling.

Anabolic steroids abuse and male infertility.

For several decades, testosterone and its synthetic derivatives have been used with anabolic and androgenic purposes. These substances were first restricted to professional bodybuilders, but become more and more popular among recreational athletes. Up to date, 3,000,000 anabolic-androgenic steroids (AAS) users have been reported in the United States with an increasing prevalence, making AAS consumption a major public health growing concern. Infertility is defined by the WHO as the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse and a male factor is present in up to 50 % of all infertile couples. Several conditions may be related to male infertility. Substance abuse, including AAS, is commonly associated to transient or persistent impairment on male reproductive function, through different pathways. Herein, a brief overview on AAS is offered. Steroids biochemistry, patterns of use, physiological and clinical issues are enlightened. A further review about fertility outcomes among male AAS abusers is also presented, including the classic reports on transient anabolic steroid-induced hypogonadism (ASIH), and the more recent experimental reports on structural and genetic sperm damage.

Depuis plusieurs décennies, la testostérone et ses dérivés synthétiques ont été utilisés à des fins anaboliques et androgéniques. Initialement réservées aux culturistes professionnels, ces substances ont été progressivement utilisées par les athlètes et les pratiquants de la musculation.Actuellement, pas moins de 3 millions d'utilisateurs de stéroïdes anabolisants ont été signalés aux États-Unis, et la prévalence croissante de cette utilisation fait de ce phénomène un sujet de préoccupation majeur.L'infertilité est définie comme l'incapacité à obtenir une grossesse réussie après 12 mois ou plus de rapports sexuels réguliers non protégés, le facteur masculin étant impliqué dans 30 à 50 % des cas parmi tous les couples infertiles.L'abus de substances, y compris les anabolisants, est souvent associé à une altération transitoire ou persistante sur la fonction reproductive mâle par différentes voies.Un aperçu des produits anabolisants couramment utilisés ainsi que leurs modes d'utilisation et mécanismes d'action sont présentés. Les implications sur la fertilité sont détaillées. Outre l'inhibition axiale transitoire, les dommages structurels et génétiques des spermatozoïdes, connus à ce jour, sont décrits. Enfin, la spécificité et les modalités de la prise en charge thérapeutique de cette catégorie de patients infertiles sont évoquées.

Clinical success of intrauterine insemination cycles is affected by the sperm preparation time.

OBJECTIVE: To determine the impact of the time interval from the end of sperm preparation (TSP) to intrauterine insemination (IUI) on the outcome. DESIGN: Prospective multicentre cohort study. SETTING: Seven French centers (assisted reproduction group in northeastern France, four academic centers, and three clinics). PATIENT(S): Eight hundred sixty-two IUI cycles (709 patients) managed by gonadotropins were studied. INTERVENTION(S): Cycles were stimulated by either FSH or hMG, and hCG was administrated when the leading follicle diameter measured >15 mm. IUIs were performed ∼ 36 hours after ovulation triggering. MAIN OUTCOME MEASURE(S): Generalized linear mixed models for binary outcomes were used to model clinical pregnancy (CP) to assess the effect of TSP adjusted for other predictors (such as maternal age, semen quality, and indication of IUI treatment). RESULT(S): The TSP effect was significant, featuring an inverse U-shaped curve admitting an optimum interval of ∼ 40-80 minutes improving CP compared with other values. Other significant predictors were total motile spermatozoa inseminated, maternal age, and unexplained infertility. CONCLUSION(S): The observance of TSP in the range of 40-80 minutes has a potential positive effect on pregnancy rate, while not requiring the investment of supplemental resources. This finding awaits confirmation in randomized trials.