Motherhood and attitudes towards motherhood in women with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVES: The aim of the study was to find out what proportion of women with MRKHS have decided to become mothers and have children or would like to have children and consider various options for motherhood. Additionally, the survey aimed at identifying factors that might influence the women's decisions and opinions regarding adoption, gestational surrogacy (GS) and uterus transplantation (UTx). MATERIAL AND METHODS: The study group consisted of 100 adult women with MRKHS who filled out questionnaires consisting of 56 questions. The survey was self-administered and anonymous. RESULTS: Most of the study participants were under 30, lived in large cities (> 150 000 inhabitants) and declared to be heterosexuals in a steady relationship (p < 0.05). While 11 participants had children, 66 out of 89 childless women (74%) expressed a desire for motherhood, but as many as 80 surveyed women have felt pressured to have children. The number of participants for whom a biological relationship with offspring was significant and insignificant respectively equaled (p = 1.000). The majority of the study participants supported the process of legalizing GS in Poland (95 vs 4) yet would opt for commercial rather than altruistic GS (64 vs 31) (p < 0.05). Most respondents stated that UTx is consistent with their faith and conscience (91 vs 4) and found UTx ethical (88 vs 4) (p < 0.0001). CONCLUSIONS: The majority of Polish women with MRKHS express the need to become a mother, but only one in ten has a child. The women's interest in biological motherhood is significant.

Accessory cavitated uterine mass (ACUM) as a miniature uterine anomaly causing severe lateralized dysmenorrhea: case series.

OBJECTIVES: Our study aimed to retrospectively analyse and present the clinical course of accessory cavitated uterine mass (ACUM), a rarely diagnosed uterine malformation. MATERIAL AND METHODS: The study group comprised 5 adolescents that were treated in the Division of Gynecology, Clinical Hospital of Obstetrics and Gynecology of Poznan University of Medical Sciences, between October 2017 and August 2022. Patients' age at diagnosis of ACUM ranged from 14.1 to 27.5 (mean 21.4) years. All patients complained of severe dysmenorrhea with significant lateralisation of the pain. RESULTS: Pelvic ultrasound (US) followed by pelvic magnetic resonance imaging (MRI) revealed the presence of a small cystic lesion surrounded by a ring of myometrium within or in connection with the regular uterine body. In four patients (80%), the lesion was on the right side, and in one patient (20%) on the left side. The volume of the ACUM cavity ranged from 0.04 to 2.4 (mean 0.8) cm³. Laparoscopic excision of ACUM, located near the uterine attachment of the round ligament, was performed in all five cases and resulted in the complete resolution of symptoms. None of the patients was diagnosed with adenomyosis or pelvic endometriosis. CONCLUSIONS: ACUM is a small, surgically correctable cause of severe dysmenorrhea in young females with an otherwise normal uterus. The lateralisation of the menstrual pain should prompt the search for this malformation with imaging techniques (US, MRI). ACUM laparoscopic excision results in complete relief of symptoms. ACUM is not associated with pelvic endometriosis.

Endometriosis in Adolescents with Obstructive Anomalies of the Reproductive Tract.

BACKGROUND: This study aimed to assess the prevalence and course of endometriosis in adolescents with obstructive Müllerian anomalies. METHODS: The study group involved 50 adolescents undergoing surgeries (median age 13.5 (range 11.1-18.5)) for rare obstructive malformations of the genital tract: 15 girls had anomalies associated with cryptomenorrhea and 35 were menstruating. The median follow-up period was 2.4 (ranging from 0.1 to 9.5) years. RESULTS: We diagnosed endometriosis in 23 of the 50 subjects (46%), including 10 of the 23 patients (43.5%) with obstructed hemivagina ipsilateral renal anomaly syndrome (OHVIRAS), six of eight patients (75%) with a unicornuate uterus with a non-communicating functional horn, two of three patients (66.7%) with distal vaginal aplasia, and five of five patients (100%) with cervicovaginal aplasia. Persistent dysmenorrhea, following treatment, affected 14 of the 50 adolescents (28%), including 8 of the 17 subjects (47.1%) diagnosed with endometriosis at the time of surgical correction and six adolescents diagnosed with endometriosis during the follow-up. CONCLUSIONS: Endometriosis affects about half of young adolescents undergoing surgical treatment of obstructive Müllerian anomalies after menarche. The incidence of endometriosis is highest in girls with cervical aplasia. The risk of developing endometriosis decreases after surgical correction of obstruction but is still significant in patients with uterine anomalies.

Lactobacillus rhamnosus has no beneficial effect on anthropometric parameters, carbohydrate metabolism and androgen status in women with polycystic ovary syndrome.

The aim of this study was to assess the effect of a twenty-week weight-reducing diet with a low glycemic index and with or without Lactobacillus rhamnosus supplementation on changes in anthropometric, metabolic, and hormonal parameters in women with polycystic ovary syndrome (PCOS). The subjects were assigned to one of two intervention groups: the D group (n = 21) received a weight-reduction diet with a low glycemic index, and the DP group (n = 19) received a weight-reduction diet with a low glycemic index, as well as supplementation with Lactobacillus rhamnosus. Anthropometric, metabolic, and hormonal parameters were evaluated at baseline and after twenty weeks of intervention. After twenty weeks, significant reductions in weight, body mass index, fat mass, and waist circumference were seen in both groups, but no significant differences between the groups were observed. The intervention resulted in changes in glucose assessment after two hours in oral glucose tolerance test and in insulin assessment after two hours in oral glucose tolerance test. In the D group, the testosterone level and free androgen index decreased significantly. In overweight and obese women with PCOS, probiotic supplementation taken alongside a twenty-week low-glycemic-index weight-reduction diet has no additional beneficial effects on anthropometrical parameters, carbohydrate metabolism, or androgen status, compared with the low-glycemic-index weight-reduction diet alone.

ß-glucuronidase activity is associated with carbohydrate metabolism but not with androgen status in overweight and obese women with polycystic ovary syndrome.

OBJECTIVES: The aim of this study was to evaluate the relationship between ß-glucuronidase and androgen levels in overweight and obese women with polycystic ovary syndrome (PCOS). The connection between ß-glucuronidase, the abundance of selected gut bacteria, carbohydrate metabolism, and diet quality was also determined. METHODS: This cross-sectional study was conducted with 56 women with a mean age of 29.14 ± 5.11 y and a mean body mass index (BMI) of 34.15 ± 5.72 kg/m2. Anthropometrical parameters, fecal ß-glucosidase activity, and selected food frequency intake were measured. RESULTS: Women with better quality diets, apart from lower BMI and better carbohydrate metabolism parameters, had more abundant Faecalibacterium prausnitzii and Akkermansia muciniphila. Two-hour oral glucose tolerance test (OGTT-2h-glu; mg/dL) was the main predictor of ß-glucuronidase activity and there was no relationship between ß-glucuronidase activity and androgen levels. Non-Healthy Diet Index-14 (nHDI-14) was the main predictor for A. muciniphila, Bifidobacteriu. longum, and F. prausnitzii abundance. QUICKI was a significant predictor of A. muciniphila abundance and OGTT-2h-glu was a significant predictor of F. prausnitzii abundance. CONCLUSION: There was no relationship between ß-glucuronidase activity and androgen levels in overweight and obese women with PCOS, but ß-glucuronidase activity may be an important factor in carbohydrate metabolism. Modulation of the abundances of F. prausnitzii, A. muciniphila, and B. longum using special diets should thus be considered a promising intervention.

Psychological correlates of sexual self-esteem in young women with Mayer-Rokitansky-Küster-Hauser syndrome.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a difference (disorder) of sex development that results from Müllerian duct aplasia in 46,XX females. The diagnosis of MRKHS is usually established in late adolescence. The purpose of the study was to assess the impact of congenital absence of uterus and vagina (CAUV) on a patient's psychosexual functioning. PARTICIPANTS AND PROCEDURE: Thirty-two women with MRKHS (mean age 22.9 years) and 32 matched healthy controls (mean age 24.75 years) completed three study questionnaires: the Sexual Self-Esteem Inventory for Women, the Rosenberg Self-Esteem Scale, and Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Statistical analysis was performed by IBM SPSS Statistics 22. RESULTS: There was no difference in global self-esteem between the two study groups. MRKHS females had lower sexual self-esteem and experienced higher intensity of some psychological functioning characteristics (paranoia, psychasthenia, schizophrenia) than their peers. Correlations between sexual self-esteem and results on depression, psychopathic deviate, schizophrenia, social introversion and anxiety scales were observed in patients with MRKHS. Global self-esteem and schizophrenia results were significant predictors of sexual self-esteem in the clinical group. Higher global self-esteem and lower results in the schizophrenia scale were associated with higher sexual self-esteem in patients with MRKHS. CONCLUSIONS: Psychological and medical counseling of women with MRKHS should address their impaired sexual self-esteem, especially sexual skills and experiences. While the number of diagnostic responses indicating the presence of specific symptoms in MRKHS females is statistically significantly different, the level of scores obtained does not exceed the threshold of clinical pathology.

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17ß-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.

Uterine Development During Induced Puberty in Girls with Turner Syndrome.

Objective: Most girls and women with Turner syndrome (TS) require estrogen replacement therapy (ERT) to initiate or maintain pubertal development. Most likely, the most fundamental effect of ERT in hypogonadism is the promotion of uterine growth. The optimal ERT model is still being discussed. The present study aimed to assess uterine size in girls with TS in the prepubertal state during and after the induction of puberty and compare it to a healthy population. Methods: The analysis encompassed 40 TS girls. The prepubertal and postpubertal control groups contained 20 healthy girls each. All patients with TS were treated with 17-ß estradiol. Uterine imaging was performed with two-dimensional (2D) transabdominal ultrasound. The uterine volume (UV) and fundocervical antero-posterior ratio (FCR) were calculated in patients with TS before the pubertal induction, after 6-12 months of estrogen replacement therapy (ERT), after ≥ 36 months of ERT or ≥ 12 months after menarche. Results: The average age of TS patients at estrogen introduction and at the last control visit, when the uterus was considered mature, was 12.9 years and 16.1 years, respectively. The UV in patients with TS at the beginning of ERT was 1.55 ± 1.22 cm3 and was not significantly different from the UV in the prepubertal controls. The mature UV in patients with TS was 31.04 ± 11.78 cm3 and was significantly smaller than the UV of the postpubertal controls (45.68 ± 12.51 cm3, p<0.001). The FCR in girls with TS did not differ significantly from that in the prepubertal and postpubertal control groups, respectively. No prognostic factors could be established for the final UV. By the last control visit, thelarche had advanced in most patients to Tanner 4 and 5 (37.5% and 40%, respectively). Conclusions: Before the onset of ERT, patients with TS have a uterus similar in size to that in prepubertal healthy girls. Pubertal induction in patients with TS causes a significant increase in the UV that is detectable after 6-12 months of ERT. The mature uterus is smaller in patients with TS than in the age-matched healthy population.

Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.

Müllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassing TBX6 were found to be causative in these patients. TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants in TBX6 in patients with müllerian anomalies. Since we suggested TBX6 as a strong candidate, we performed sequential analysis of the TBX6 gene in additional 125 patients with müllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution in TBX6 in 4/125 patients were found. The missense variant c.484G>A, which we have described in a previous study, was reidentified but with no higher frequency as in our controls. We detected 3 possibly pathogenic variants in TBX6 and could show that the variant c.484G>A is not causative for disorders of the müllerian ducts in the non-Finnish European population. In summary, we present increasing evidence for association of variants in TBX6 with malformations of the müllerian ducts.

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype-phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. The study was an analysis of clinical investigations followed by genetic testing performed on 35 patients presenting to a single center. The clinical assessment included external masculinization score (EMS), endocrine profiling and radiological evaluation. Array-comparative genomic hybridization (array-CGH) and sequencing of DSD-related genes were performed. Using an integrated approach, reaching the definitive diagnosis was possible in 12 children. The correlation between clinical and genetic findings was higher in patients with a more severe phenotype (median EMS 2.5 vs 6; P = 0.04). However, in 13 children, at least one variant of uncertain significance was identified, and most times this variant did not correspond to the original clinical diagnosis. In three patients, the genetic studies guided further clinical assessment which resulted in a reclassification of initial clinical diagnosis. Furthermore, we identified eight patients harboring variants in more than one DSD genes, which was not seen in controls (2.5%; P = 0.0003). In summary, taking into account potential challenges in reaching the definitive diagnosis in 46,XY DSD, only integrated approach seems to be the best routine practice.

Vaginoscopic Resection for Vaginal Rhabdomyosarcoma during Early Infancy: A Case Report.

Embryonal rhabdomyosarcoma, a malignant soft tissue neoplasm, is 1 of the most common pediatric tumors of the vagina. Although radical surgery has been replaced with radiation therapy, chemotherapy, and conservative surgery, the use of vaginoscopy is still uncommon. We present the case of an infant who underwent vaginoscopic resection because of botryoid sarcoma at 9 months of age.

Obstructive Müllerian Anomalies in Menstruating Adolescent Girls: A Report of 22 Cases.

STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche. DESIGN: A retrospective case series of adolescents who, between 2009 and 2016, were treated for vaginal or uterine obstructive malformations diagnosed after menarche. SETTING: Division of Gynecology, Poznan University of Medical Sciences, Poznan, Poland. PARTICIPANTS AND INTERVENTIONS: Twenty-two patients who, at the age range between 11.4 and 18.2 (median, 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly. MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course. RESULTS: Eighteen patients (18 of 22; 81.8%) were diagnosed with obstructed hemivagina ipsilateral renal anomaly syndrome. One patient (1 of 22; 4.5%) was diagnosed with uterus didelphys and unilateral cervical atresia. Three patients (3 of 22; 13.6%) had unicornuate uterus with a cavitated, noncommunicating rudimentary horn. The right side was affected in 13 patients (13 of 22; 59.1%), and the left side in 9 patients (9 of 22; 40.9%; P > .05). All but 1 patient had renal agenesis on the side of obstruction. Before repair of the obstructive genital anomaly, 4 patients underwent unnecessary surgeries for misdiagnosed ovarian cysts. Serious complications (pelvic inflammatory disease, vesicovaginal fistula) occurred in 2 patients with microperforated pyocolpos. Pelvic endometriosis was found in 4 of our patients. CONCLUSION: Our case series suggests that obstructed hemivagina ipsilateral renal anomaly syndrome is the most common obstructive Müllerian anomaly diagnosed in adolescents after menarche. The differential diagnosis for unilateral kidney agenesis accompanied by dysmenorrhea in adolescent girls should include obstructive genital tract anomaly. Accurate diagnosis of an obstructive genital anomaly early after menarche might help prevent unnecessary surgeries and infection-related complications. Meanwhile, prompt surgical correction of an obstructive genital tract anomaly results in relief of symptoms and might reduce the risk of endometriosis.

Elite athletes and pubertal delay.

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes' pubertal development. On the other hand, pubertal timing, early or late, may impact on an athlete selection for a particular sport. Genetic predisposition, training load, nutritional status and psychological stress determine athletes' pubertal timing. Athletes that practice esthetic sports, especially gymnasts, are predisposed to a delay in pubertal development. The growing evidence indicates that energy deficiency, not a systemic training per se, plays a crucial role in the pathogenesis of functional hypothalamic hypogonadism in female athletes. Metabolic and psychologic stress activate hypothalamic-pituitary-adrenal axis and suppress hypothalamic-pituitary-ovarian axis. Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and a targeted treatment. Somatic growth and sexual maturation of elite female athletes are largely sport-specific since each sport favors a particular somatotype and requires a specific training. Chronic negative energy balance resulting from a systemic physical training and inadequate energy intake may delay pubertal development in elite athletes. Youth athletes, especially those engaged in competitive sports that emphasize prepubertal or lean appearance, are at risk of developing relative energy deficiency in sport associated with disordered eating or eating disorders. Management strategies should address the complex conditions underlying functional hypothalamic hypogonadism.

Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype. STUDY DESIGN: A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015. RESULTS: Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities. CONCLUSIONS: Our study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS.

Testosterone concentrations in female athletes and ballet dancers with menstrual disorders.

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.

Sexual activity of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)--preliminary study.

OBJECTIVES: The aim of the study was to assess sexual activity of women with Mayer-Pokitansky-K0ster-Hauser syndrome (MRKHS) in relation to age-matched con trots. The hypotheses on differences betwedn them in regard to various types of sexual activity and its characteristics were verified. MATERIAL AND METHODS: 31 patients with MRKHS and 31 healthy women were examined. Psychosexual biography by M. Beisert was used to gain information on autoerotic and dyadic behavior: Phi-coefficient and U Mann-Whitney test were performed. RESULTS: Women with the MRKHS started autoerotic be ha vior at a similar age (U=58, 00; ns), practiced masturbation with the same frequency (in adolescence--U=350,00; ns and adulthood--U=137.50; ns) and manifested a similar level of sexual arousal (U=326,50; ns) as the age-matched controls. They declared experiencing vaginal (Phi=0.507; p<0.001) and oral (Phi=0.318; p<0.05) intercourse less frequently than healthy women. They also initiated dyadic sexual activity at a higher age than the controls (petting U=182,00; p<0.01; req=0.41; vaginal intercourse (U=64.00; 0<0.001; req = 0.59; oral contact (U=91.50; p<0.05; req=0.56) with exception of anal intercourse, where the age of initiation was the same in both groups (U=30,50; ns). Women in both groups experienced similar orgasm frequency during petting (U=108.50; ns), oral intercourse (U=97.50; ns), anal Tntercourse (U=25.50; ns). However, patients with the MPKHS reported significantly lower frequency of orgasm during vaginal intercourse (U=60.50; p<0.05; req=0.36). CONCLUSIONS: Sexual development of patients with the MRKHS and healthy women is partly similar Differences in dyadic sexual activity are not limited to vaginal intercourse thus are probably determined by biological conditions and their psychological implications.

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.

OBJECTIVE: To identify genetic causes of malformations of the müllerian ducts. DESIGN: Retrospective laboratory study. SETTING: University hospital. PATIENT(S): A total of 167 patients with disorders of the müllerian ducts: 116 patients with Mayer-Rokitansky-Küster-Hauser syndrome and 51 patients with fusion disorders of the müllerian ducts. The control group was composed of 94 fertile women with at least one child. INTERVENTION(S): Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts. MAIN OUTCOME MEASURE(S): Identification of rare variants in RBM8A and TBX6. RESULT(S): In total, we detected four RBM8A variants in 13 patients with disorders of the müllerian ducts and two heterozygous TBX6 variants in 5 of 167 patients. CONCLUSION(S): Mutations of RBM8A and TBX6 are associated with disorders of the müllerian ducts.

Creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and previously corrected rectovestibular fistula concomitant with imperforate anus.

BACKGROUND: Congenital absence of uterus and vagina (CAUV) when associated with anorectal malformations is usually diagnosed and repaired in infancy at the time of anorectoplasty. Long-term observations of patients are scarce and do not justify early vaginal reconstruction. Question arises whether creation of a neovagina can be safely and successfully performed when the patient is mature. CASE: The patient, diagnosed with MRKH syndrome at 16 years of age, underwent repair of rectovestibular fistula and imperforate anus ("cut-back" procedure, temporal sigmostomy and sagittal anterior anorectoplasty) in infancy. At 18, modified Wharton vaginoplasty was performed with a good anatomico-functional outcome. SUMMARY AND CONCLUSIONS: Early repair of anorectal malformation and postponed vaginal reconstruction seem to be a viable option for patients with congenital rectovestibular fistula and anal atresia concomitant with CAUV.

Nine-month nutritional intervention improves restoration of menses in young female athletes and ballet dancers.

BACKGROUND: We 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. METHODS: In 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. RESULTS: The 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). CONCLUSIONS: A 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.

Effects of dietary intervention in young female athletes with menstrual disorders.

BACKGROUND: The 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. METHODS: From 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. RESULTS: Following 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. CONCLUSIONS: This 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.