BackgroundThe aim of this study was to evaluate the influence of three months of dietary intervention on menstrual cycle in young female athletes with amenorrhea or oligomenorrhea.MethodsFrom forty-five female professional athletes with menstrual irregularity that were recruited thirty-one, aged 18.1 ± 2.6 years, completed the study and were analyzed. Hyperprolactinemia, thyroid dysfunction, primary ovarian failure and hyperandrogenism were excluded in the study participants. The subjects started intense training at the age of 11.2 ± 3.5 years and continued during next 6.8 ± 3.3 years. Energy and nutrients intake, total energy expenditure, energy availability and body composition as well as serum concentrations of LH, FSH, 17 – beta estradiol and progesterone were measured at the beginning of the study and after three months of individualized dietary intervention.ResultsFollowing three months of dietary intervention significant increase in energy intake (2354 ± 539 vs. 258 8 ± 557 kcal, P = 0.004) and energy availability (28.3 ± 9.2 vs. 35.8 ± 12.3 kcal/kg FFM/d, P = 0.011) was observed as well as improved energy balance (−288 ± 477 vs. -51 ± 224 kcal/d, P = 0.002). Though no changes in BMI and body composition were noted but significant rise in LH concentrations (3.04 ± 1.63 vs. 4.59 ± 2.53 mIU/ml, P = 0.009) and LH to FSH ratio (0.84 ± 0.56 vs. 0.96 ± 0.52, P = 0.001) was achieved, but no restoration of menstrual cyclicity.ConclusionsThis report provides further support for the role of energy deficiency in menstrual disorders among young female athletes and the benefits of an adequate energy intake and energy availability on hormones concentration. Continuation controlled dietary intervention is needed to assess the extent to which long-term improvement in the nutritional status results in improvements in the hormonal status of female athletes, to an extent that would allow the regulation of the menstrual cyclity.

BackgroundWe hypothesized that an intervention designed to increase the energy and nutrient intake could serve as an efficacious method to restore normal menstrual functions in athletes and ballet dancers.MethodsIn this study, a 9-month nutritional intervention (NI) was conducted in 21 dancers and 31 athletes with menstrual disorders. Analyses of the body composition were performed, and the levels of LH, FSH, P, E2, TSH, T, PRL, SHBG, leptin, resting metabolic rate (RMR), energy and nutrient intake, total energy expenditure were estimated. The NI was based on an individual diet. The effects of the NI were controlled after 3, 6 and 9 months of use.ResultsThe NI resulted in a significant change of the energy and nutrient intake. After 9 months, a significant increase in the LH level among dancers was observed, while in female athletes this effect was seen after 3 months of the NI use. The 9-month NI resulted in the restoration of regular menses in 3 dancers and 7 athletes, respectively. Women with regular cycles had a higher percentage of the fat mass (FM).ConclusionsA non-pharmacological intervention in female athletes and ballet dancers with menstrual disorders can restore regular menstrual cycles, although restoration of menses may take more than 1 year. An increase in the body fat mass may be one of the most important predictors of restoration of menses.

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Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a well-known malformation pattern of the Müllerian ducts (MDs) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b-/- mice show a MRKHS-like phenotype, WNT9B has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B in 226 female patients with disorders of the MDs, including 109 patients with MRKHS, as well as in 135 controls. One nonsense mutation and five likely pathogenic missense mutations were detected in WNT9B. Five of these mutations were found in cases with MRKHS accounting for 4.6% of the patients with this phenotype. No pathogenic mutations were detected in the control group (p = 0.017). Interestingly, all of the MRKHS patients with a WNT9B mutation were classified as MRKHS type 1, representing 8.5% of the cases from this subgroup. In previous studies, two of the patients with a WNT9B mutation were found to carry either an additional deletion of LHX1 or a missense mutation in TBX6. We conclude that mutations in WNT9B were frequently associated with MRKHS in our cohort and some cases may be explained by a digenic disease model.

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Menstrual disorders are common among female athletes and ballet dancers. Endocrine changes, such as high testosterone (HT) levels and high luteinizing hormone (LH)/follicle-stimulating hormone (FSH) ratios, may suggest functional ovarian hyperandrogenism which may induce such dysfunction. The aim of this study was therefore to evaluate endocrine status in female athletes and ballet dancers with menstrual disorders. Their nutritional status and dietary habits were analysed in relation to the testosterone levels. In a cross-sectional approach, 31 female athletes (18.1 ± 2.6 years) and 21 ballerinas (17.1 ± 0.9) with menstrual disorders participated in the study. The levels of serum LH, FSH, progesterone (P), estradiol (E2), prolactin (PRL), thyroid-stimulating hormone, testosterone (T) and sex hormone-binding globulinwere measured to assess hormonal status. In addition, the free androgen index (FAI) was calculated. Nutritional status, total daily energy expenditure and nutritional habits were evaluated. Girls were assigned to one of the following groups: low testosterone (LT) level, normal testosterone level or HT level. There were significant differences between ballerinas and other female athletes in terms of testosterone levels, FAI, age at the beginning of training, length of training period and age at menarche. The PRL level was lowest in the LT group while the FAI index was highest in the HT group. Daily energy and carbohydrate intakes were significantly lower in the HT group. T levels in the study subjects were found to be associated with nutritional factors, energy availability, age at the beginning of training and frequency of training. This is the first report of HT levels being associated with the status of a female ballet dancer, the age of menarche and the length of the training history. Further research is necessary to confirm the results in a larger study group.

Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-comparative genomic hybridization (CGH) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In 8 patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11.21, 9q33.1, 3q26.11 and 7q31.1. The rearrangement in 17q12 including LHX1 and HNF1β as well as in 22q11.21 have already been observed in MRKHS (Mayer-Rokitansky-Küster-Hauser syndrome). In summary, we (1) detected causative micro-rearrangements in patients with Müllerian fusion anomalies, (2) show that Müllerian fusion anomalies and MRKHS may have a common etiology, and (3) identified new candidate genes for Müllerian fusion anomalies.