Development of a questionnaire to evaluate female fertility care in pediatric oncology, a TREL initiative.

BACKGROUND: Currently the five-year survival of childhood cancer is up to 80% due to improved treatment modalities. However, the majority of childhood cancer survivors develop late effects including infertility. Survivors describe infertility as an important and life-altering late effect. Fertility preservation options are becoming available to pre- and postpubertal patients diagnosed with childhood cancer and fertility care is now an important aspect in cancer treatment. The use of fertility preservation options depends on the quality of counseling on this important and delicate issue. The aim of this manuscript is to present a questionnaire to determine the impact of fertility counseling in patients suffering from childhood cancer, to improve fertility care and evaluate what patients and their parents or guardians consider good fertility care. METHODS: Within the framework of the EU-Horizon 2020 TREL project, a fertility care evaluation questionnaire used in the Netherlands was made applicable for international multi-center use. The questionnaire to be used at least also in Lithuania, incorporates patients' views on fertility care to further improve the quality of fertility care and counseling. Results evaluate fertility care and will be used to improve current fertility care in a national specialized pediatric oncology center in the Netherlands and a pediatric oncology center in Lithuania. CONCLUSION: An oncofertility-care-evaluation questionnaire has been developed for pediatric oncology patients and their families specifically. Results of this questionnaire may contribute to enhancement of fertility care in pediatric oncology in wider settings and thus improve quality of life of childhood cancer patients and survivors.

Challenges in the Diagnosis of XY Differences of Sexual Development.

Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient's with primary amenorrhea gynaecological examination and magnetic resonance imaging (MRI) revealed the absence of the uterus and a very short vagina. Two sclerotic structures, similar to ovaries, were recognised bilaterally in the iliac regions. Hormonal assay tests revealed hypergonadotropic hypogonadism and the testosterone level was above normal. The karyotype was 46,XY and a diagnosis of Swyer syndrome was made. At the age of 41, the patient underwent a gynaecological review and after evaluating her tests and medical history, the previous diagnosis was questioned. Therefore, a molecular analysis of sex-determining region Y (SRY) and androgen receptor (AR) genes was made and the results instead led to a definite diagnosis of complete androgen insensitivity syndrome. Conclusions: The presented case illustrates that differentiating between complete gonadal dysgenesis and complete androgen insensitivity can be challenging. A well-established diagnosis is crucial because the risk of malignancy is different in those two syndromes, as well as the timing and importance of gonadectomy.

A View from the past into our collective future: the oncofertility consortium vision statement.

PURPOSE: Today, male and female adult and pediatric cancer patients, individuals transitioning between gender identities, and other individuals facing health extending but fertility limiting treatments can look forward to a fertile future. This is, in part, due to the work of members associated with the Oncofertility Consortium. METHODS: The Oncofertility Consortium is an international, interdisciplinary initiative originally designed to explore the urgent unmet need associated with the reproductive future of cancer survivors. As the strategies for fertility management were invented, developed or applied, the individuals for who the program offered hope, similarly expanded. As a community of practice, Consortium participants share information in an open and rapid manner to addresses the complex health care and quality-of-life issues of cancer, transgender and other patients. To ensure that the organization remains contemporary to the needs of the community, the field designed a fully inclusive mechanism for strategic planning and here present the findings of this process. RESULTS: This interprofessional network of medical specialists, scientists, and scholars in the law, medical ethics, religious studies and other disciplines associated with human interventions, explore the relationships between health, disease, survivorship, treatment, gender and reproductive longevity. CONCLUSION: The goals are to continually integrate the best science in the service of the needs of patients and build a community of care that is ready for the challenges of the field in the future.

The use of vaginal wet smear: can we predict Mycoplasmas/Ureaplasmas?

PURPOSE: To evaluate the agreement of wet smear microscopy with Gram stain microscopy and to assess whether it is possible to predict Mycoplasmas/Ureaplasmas when analysing vaginal secretion with Gram stain and wet smear microscopy. METHODS: Women with complaints of the abnormal vaginal discharge were invited to participate. A sample of vaginal secretion was taken for wet smear microscopy and for Gram staining analysis. A sample from the endocervical canal was taken for DNA detection of seven infections: Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma parvum, Ureaplasma urealyticum, Chlamydia trachomatis, Neisseria gonorrhoeae and Trichomonas vaginalis. The percentage agreement between wet smear and Gram stain was determined and the Cohen's Kappa values were calculated. RESULTS: Of 158 consecutive women included, one (or a few) of the infections were detected in 54% of them and the most frequent infection was Ureaplasma parvum (79% of all the cases with infections). The percentage agreement between vaginal wet smear and Gram stain was 73% (Cohen's Kappa value 0.63). A statistically significant association between the DNA detected Mycoplasmas/Ureaplasmas and bacterial vaginosis was found (positive amine test p = 0.046, wet smear p = 0.005 and Gram stain p = 0.03). CONCLUSIONS: There was a statistically significant association between bacterial vaginosis and the DNA detected Mycoplasmas/Ureaplasmas. The agreement of vaginal wet smear with Gram stain was good.

Endometrial biopsy and density of nerve fibers in eutopic endometrium. Looking for easier ways to diagnose endometriosis.

The purpose of study was to evaluate if there is any difference between nerve fibers density in eutopic endometrium in women with and without endometriosis. The prospective case - control study conducted between October 2013 and December 2015. The study included 60 reproductive age women undergoing laparoscopy for suspected endometriosis, pelvic pain, or infertility and not currently receiving hormonal treatment for at least 3 months prior to laparoscopy. Immunohistochemical nerve fiber detection in endometrial curetting using anti-gene product 9.5 was compared with surgical diagnosis. The nerve fibers were detected in eutopic endometrium in women with and without endometriosis. PGP9.5 positive nerve fibers were found in 26 (43%) cases: 16 (50%) in women with endometriosis and 10 (36%) in women without endometriosis. The mean nerve fiber density was higher in the group with endometriosis (0.53 per mm2 ± 0.68) than without endometriosis (0.48 per mm2 ± 0.89), but no statistically significant difference was observed (p > .05). Test specificity was 64.3%, sensitivity 50%, positive predictive value - 61.5%, negative predictive value - 52.9%, and overall accuracy 56.7%. The detection of PGP9.5 positive nerve fibers in eutopic endometrium cannot be used as a reliable diagnostic test of diagnosing endometriosis.

Abnormal uterine bleeding in adolescents: ultrasound evaluation of uterine volume.

OBJECTIVE: To evaluate ultrasonographic measurements of internal genitalia in girls suffering from abnormal uterine bleeding (AUB) and to compare the appearances with those of healthy girls. DESIGN Prospective case - control study. METHODS: One hundred and five not sexually active adolescent girls were enrolled - 67 patients were suffering from AUB and there were 38 healthy peers. The groups did not differ in chronological age, or in postmenarcheal age. All girls underwent assessment of their history, clinical data and transabdominal pelvic ultrasound to evaluate their uterus and ovaries. In order to avoid the impact of endometrium cycle fluctuations, the uterine volume was calculated including and excluding its thickness. RESULTS: The uterine volume among the girls suffering from AUB was significantly larger than in the control group. The mean uterine volume including endometrium in the study and control groups was 63.2 ± 24.8 and 47.8 ± 17.5 cm3, respectively (p=.001), and excluding the endometrium was 34.7 ± 13.1 and 29.1 ± 13.8 cm3 (p=.043). We did not find any significant difference in ovarian volume between the groups. CONCLUSIONS: The girls in the AUB group have significantly larger uterine volume than healthy girls. This finding does not depend on endometrial thickness.

The risk factors of dysmenorrhea in young women.

OBJECTIVE: The Aim: To evaluate risk factors for dysmenorrhea in women of reproductive age and to review its characteristics. PATIENTS AND METHODS: Material and Methods: A questionnaire was conducted among 354 women followed by a statistical analysis of the gathered data. RESULTS: Results: Among the interviewed women 84.2 % suffer from painful menstruations. Women under 25 years of age are more likely to experience pain, which reduces with age. Dysmenorrhea is more common among women whose menstrual cycles are irregular (92.5%) with a number of bleeding days 4-7 (90.7 %), though still occurring within the normal 21-35 days interval (87.6 %). Nulliparous women are more likely to experience menstrual pain (89.9 %). CONCLUSION: Conclusion: Dysmenorrhea depends on women's age, length of menstrual bleeding, length of menstrual cycle and its regularity, age at menarche and parity, but does not depend on body mass index and smoking status.

Reproductive health of female childhood cancer survivors.

Current treatment schemes of childhood cancer are usually effective enough to enable successful management of the disease. With the high rates of survival, another problem arises because patients often suffer much later from side effects of the toxic therapy. A common complication caused by cancer treatment is impairment of the female reproductive system including dysfunction of the hypothalamus and hypophysis, the killing of gonadal cells, and uterine injury. This may lead to altered pubertal timing, gonadotropin insufficiency or deficiency, acute ovarian failure, premature ovarian insufficiency, sexual dysfunction, and complicated pregnancy. The severity of these side effects depends a lot on the patient's age at treatment and the particularities of their chemo- and/or radiotherapy regimens. While some types of cancer require aggressive treatment, and therefore negative side effects cannot be avoided, strategies which preserve the patient's reproductive potential are essential. Such strategies are more established in the treatment of adult women, however there are also promising opportunities in the treatment of pediatric oncology patients. Ovar-ian transposition is already widely applied before pelvic radiotherapy. Cryopreservation of ovarian tissue, cryopreservation and in vitro maturation of immature oocytes, or cryopreservation of mature oocytes when the patient's age is appropriate, have also shown to have promising results in pediatric patients. Concurrent combinations of several techniques can also be successful. Counselling of pediatric patients and their families is challenging, and the urgent commencement of anticancer therapies often discourages attempts to preserve the girl's reproductive system. Given that successful methods of fertility preserva-tion are already accessible, it is crucial not to leave this topic aside at the time of diagnosis.

The effect of a drospirenone-containing combined oral contraceptive on female sexual function: a prospective randomised study.

OBJECTIVES: The study investigated the effects on female sexual function of a progestogen-containing combined oral contraceptives (COCs) with an antiandrogenic profile taken in a continuous regimen. METHODS: In this prospective randomised single-institution study, 80 healthy women with a monogamous partner and an active sexual life were randomised into two groups for a period of 3 months. Women in the exposed group (n = 40) took a COCs containing 30 µg ethinylestradiol (EE) and 3 mg drospirenone (DRSP) in a 21/7 regimen. Women in the control group (n = 40) used either a barrier contraceptive method (BCM) or a natural family planning method (NFPM). Participants were asked to complete a set of validated questionnaires to assess sociodemographic variables and measure Female Sexual Function Index (FSFI). RESULTS: The total FSFI score (p < 0.0001), as well as the desire (p = 0.04) and arousal (p = 0.03) scores, were significantly lower in the COCs group after 3 months of hormonal contraceptive use compared with baseline. Women using BCM or NFPM showed an improvement in total FSFI score (p = 0.02). Hormonal contraception with DRSP increased the likelihood of worse sexual function in the desire (odds ratio [OR] 2.47; 95% confidence interval [CI] 1.22, 4.98; p = 0.01) and arousal domains (OR 2.85; 95%CI 1.34, 5.93; p = 0.005) and in total FSFI score (OR 2.01; 95%CI 1.45, 2.79; p < 0.001). The results remained statistically significant even after adjustment for smoking status. CONCLUSIONS: The study found evidence that women taking a combined EE/DRSP COCs for 3 months may have a worsening of sexual function as measured by FSFI.

Microbiological findings of vulvovaginitis in prepubertal girls.

OBJECTIVE: To compare vaginal culture results between prepubertal girls with and without vulvovaginitis, and obtain an overview of the most commonly encountered microbes. DESIGN: Prospective descriptive study. SETTING: Outpatient clinic of Vilnius University Hospital Santariskiu Klinikos during September 2011-December 2012. PATIENTS: 115 prepubertal girls with vulvovaginitis symptoms and additionally 20 age-matched asymptomatic girls. METHODS: Each girl had a vaginal smear carried out using a sterile swab from the introitus or lower third of the vagina. All samples were referred to the microbiology laboratory where standard microbiological diagnostic procedures were performed. RESULTS: Positive microbiological findings were seen in all 115 (100%) symptomatic girls and in 12 (60%) control group girls (p<0.001). Pathogenic bacteria were found only in symptomatic girls. Statistically significant differences in bacteria culture results (pure or mixed) and growth of isolated bacteria colonies between patients versus healthy girls were found (p<0.05). The dominant bacteria in the target group, accounting for 66% of all isolated microbes, were Escherichia coli, Enterococcus faecalis, Staphylococcus coagulase negative, Streptococcus α haemolyticus and A group Streptococcus ß haemolyticus. The bacteria of faecal origin were isolated from 61 (53%) girls with vulvovaginitis and from 5 (25%) girls without vaginal inflammation (p<0.05). Instances of Candida species were extremely rare (2.6%). CONCLUSIONS: Positive microbiological findings, mixed bacteria cultures and a high growth of bacteria colonies are found significantly more often in girls with vulvovaginitis. The main causative premenarchal vulvovaginitis agents are faecal in origin.

Dilemmas concerning the course of pregnancy in patients with anorexia nervosa considering hormonal and somatic parameters.

Mental anorexia nervosa is a rare, potentially severe, chronic, and recurrent mental disorder that occurs more often in women than in men, especially during the childbearing years. The disorder is associated with an increased risk of mortality, mainly related to the physical consequences of severe malnutrition and suicide. Malnutrition of the body can cause serious hormonal and somatic problems. Despite significant hormonal disturbances that reduce fertility, a woman with anorexia can become pregnant. A new phenomenon now seen with increasing frequency is pregorexia, an eating disorder associated with pregnancy. It involves the use of dietary restrictions to avoid excessive weight gain during pregnancy. Pregnancy changes the hormonal economy mainly due to the development of the placenta, which secretes many hormones, not just sex hormones. Mental anorexia poses a significant risk to both mother and child if not diagnosed and treated properly. Treatment of anorexia involves simultaneous somatic and psychological treatment. During pregnancy, additional care should be taken to create an optimal environment for the developing foetus. Unfortunately, there is still a lack of research providing guidance in this area. Available studies are mainly case reports or reports focusing on specific clinical situations. It is worth noting that no study to date has attempted a comprehensive assessment of endocrine disruption in pregnant women with anorexia. Recognising the existing knowledge gap on endocrine disorders in pregnant women with anorexia nervosa, a systematic review of the literature was conducted.

Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?

INTRODUCTION: Metabolic syndrome (MetS), characterized by visceral obesity, glucose abnormalities, hypertension and dyslipidemia, poses a significant risk of diabetes and cardiovascular disease. Turner syndrome (TS), resulting from X chromosome abnormalities, carries health complications. Despite growing evidence of an increased risk of MetS in women with TS, its prevalence and risk factors remain under investigation. These considerations are further complicated by the varying timing and dosages of treatment with growth hormone and sex hormones. METHODS: We conducted a cross-sectional study comparing 44 individuals with TS with 52 age-matched control subjects. Growth hormone treatment in the study group was administered for varying lengths of time, depending on clinical response. We collected anthropometric, metabolic, endocrine and body composition data. Statistical analyses included logistic regression. RESULTS: Baseline characteristics, including age, BMI and height, were comparable between the TS and control groups. Hormonally, individuals with TS showed lower levels of testosterone, DHEA-S, and cortisol, as well as elevated FSH. Lipid profiles indicated an atherogenic profile, and the body composition analysis showed increased visceral adipose tissue in those with TS. Other metabolic abnormalities were common in individuals with TS too, including hypertension and impaired fasting glucose levels. The risk of MetS components was assessed in subgroups according to karyotypes: monosomy 45X0 vs. other mosaic karyotypes. Logistic regression analysis showed a significant association between increased visceral adipose tissue in subjects with TS. Those with metabolic complications tended to have less muscle strength compared to those without these complications in both the study and control groups. CONCLUSIONS: This study highlights the unique metabolic and cardiovascular risk profile of individuals with TS, characterized by atherogenic lipids, higher levels of visceral adipose tissue and increased metabolic abnormalities. These findings underscore the importance of monitoring metabolic health in individuals with TS, regardless of age, BMI or karyotype, and suggest the potential benefits of lifestyle modification, building more muscle strength, and weight control strategies. Further research is needed to better understand and address the metabolic challenges faced by women with TS.

Evaluation of Trabecular Bone Microarchitecture and Bone Mineral Density in Young Women, Including Selected Hormonal Parameters.

The absence of non-invasive methods for assessing bone material and structural changes is a significant diagnostic challenge. Dual-energy X-ray absorptiometry (DXA) bone mineral density (BMD) testing is the gold standard for osteoporosis diagnosis. BMD and the trabecular bone score (TBS) have facilitated targeted osteoporosis prevention and treatment in clinical settings. The findings from this study indicate that BMD modulation in young women is influenced by various hormones, potentially compromising the diagnostic precision of BMD for subclinical bone demineralization. A total of 205 women aged 19 to 37 underwent anthropometric measurements and hormonal tests. BMD was determined using DXA, and TBS values were computed from the lumbar spine L1-L4 segment. The multivariate analysis findings suggest that BMD might not be determined by hormones. The relationship between TBS and TSH was statistically significant in the univariate analysis, which indicates the efficacy of further studies to determine the link between TBS and specific hormones. Analyzing the strength of the correlation between TBS and hormones in the univariate analysis shows which factors are worth considering in further analyses. This makes it possible to create better techniques that will help identify young women who are at a higher risk of developing osteoporosis.

Advantages and disadvantages of over-the-counter availability of emergency contraception.

OBJECTIVES: To compare usage patterns, accessibility and knowledge about over-the counter (OTC) emergency contraception (EC) in comparison to prescription-only EC. DESIGN AND SETTING: Self-designed, paper-based validated questionnaires containing 26 questions were distributed among students and high school pupils in Poland (PL) - 1000 questionnaires and in Lithuania (LT) - 650. In Lithuania EC is available OTC, whereas in Poland EC is a prescription-only drug. Statistical analysis was performed using SAS software with p<0.05 considered significant. RESULTS: 74.01% of Poles and 70.89% of Lithuanians reported a history of sexual activity. About one third of the respondents in both countries used EC at least once in a lifetime (PL: 29.01%, LT: 32.2%; p>0.05). The main reason for EC usage in both countries was a broken condom (PL: 60.63%, LT: 57.66 %; p>0.05). In case of emergency more than half of the questioned women in both countries would use EC pill. The knowledge about EC was significantly lower in Poland (PL median - 8 out of 16; LT - 10 out of 16 true/false statements; p<0.01). CONCLUSIONS: Over-the-counter availability of EC does not cause repetitive or increased usage. Moreover, an easier access to EC improves patients' knowledge about the drug.

The Interplay between Muscular Grip Strength and Bone Mineral Density with Consideration of Metabolic and Endocrine Parameters in Individuals with Turner Syndrome.

INTRODUCTION: Patients with Turner syndrome (TS) often face skeletal and muscular challenges, including reduced bone mineral density (BMD) and muscle weakness. This comprehensive study sheds light on the complex interplay between muscle strength, BMD, and metabolic and endocrine parameters in TS and healthy subjects. METHODS: A cross-sectional study involving 42 TS patients and 70 healthy women was conducted. All patients had their BMD determined in the L1-L4 lumbar spine section and in the whole skeleton as well as the parameters of body fat mass (BF), and visceral fat mass (VF) were also determined. The maximum gripping force was measured with a hydraulic manual dynamometer. In addition, a number of blood hormonal and metabolic parameters were determined. RESULTS: In the TS group, hand grip strength correlated positively with triglyceride levels but not with BMD. Healthy individuals had a positive link between hand grip strength and BMD, while patients with TS did not show a significant association between the two. A trend suggested that longer recombinant human growth hormone (rhGH) therapy might improve BMD in the L1-L4 region. Multiple linear regression analysis revealed that muscle strength assessment may be a potential exponent of reduced BMD, and also used clinically in young adult women but not in individuals with TS. CONCLUSIONS: The relationship between BMD variables and hand grip might differ between the two groups, potentially indicating distinct musculoskeletal characteristics in TS patients. Longer rhGH therapy in TS patients may have a positive effect on BMD in the L1-L4 region. Understanding the intricate relationships between these factors is important for optimizing clinical management strategies and improving the quality of life for TS patients.

Evaluation of oncofertility care in childhood cancer patients: the EU-Horizon 2020 twinning project TREL initiative.

Background: The 5-year survival rate of childhood cancer exceeds 80%, however, many survivors develop late effects including infertility. The aim of this study was to evaluate the current status of oncofertility care at Vilnius University Hospital Santaros Klinikos (VULSK) within the framework of the EU-Horizon 2020 TREL project. Methods: All parents or patients aged 12-17.9 years treated from July 1, 2021 until July 1, 2022 were invited to complete an oncofertility-care-evaluation questionnaire. After completing the questionnaire, patients were triaged to low-risk (LR) or high-risk (HR) of gonadal damage using a risk stratification tool (triage). Data was assessed using descriptive statistics. Results: Questionnaires were completed by 48 parents and 13 children triaged as 36 (59%) LR and 25 (41%) HR patients. Most HR respondents (21/25, 84%) were not counseled by a fertility specialist. Six boys (4 HR, 2 LR) were counseled, none of the girls was counseled. Three HR boys underwent sperm cryopreservation. Only 17 (27.9%, 9 HR, 8 LR) respondents correctly estimated their risk. All counseled boys (n = 6) agreed the risk for fertility impairment had been mentioned as compared to 49.1% (n = 27) of uncounseled. All counseled respondents agreed they knew enough about fertility (vs. 42%). Conclusions: Respondents counseled by a fertility specialist were provided more information on fertility than uncounseled. HR patients were not sufficiently counseled by a fertility specialist. Based on the current experience oncofertility care at VULSK will be improved.

Sexual behavior and high-risk human papillomavirus in 15- to 22-year-old Lithuanian women.

We determined the risk of high-risk human papillomavirus (HR-HPV) infection in 169 15- to 22-year-old sexually active Lithuanian women attending two outpatient clinics in Vilnius. The Digene(®) Hybrid Capture II DNA test was used to test for HR-HPV infection on material collected by cervical swabs. The findings were compared with the pattern of sexual behavior as given in questionnaire replies. The overall risk of HR-HPV was 23.1%, but 60.0% in adolescents ≤15 years old. Mean age at first intercourse was 17.1 years; 73.5% of women had only had one sexual partner and 24.5% more than one. The risk of HR-HPV was higher in women with more than one sexual partner, and related to being a smoker and to early age at the first intercourse. Our results confirm that smoking, early coitarche, multiple sexual partners and unprotected vaginal intercourse are related to the risk of HR-HPV infection in young women.

Squamous Vaginal Papillomatosis in Prepubertal Female Twins: A Case Report.

This is the first case describing vaginal papillomatosis with a fibroepithelial polyp of the vulva in a prepubertal girl and vaginal papillomatosis in her twin sister. Parents contacted pediatric urologist regarding their eight-year-old daughter (twin A), who had a growth next to the external urethral meatus. The girl was referred to a pediatric surgeon. The exophytic 3 cm long structure with necrosis on top was found. After obtaining informed consent from girl parents, pediatric surgeon removed the exophytic structure and perform cystoscopy and vaginoscopy for possible changes in the bladder and vagina. Cystoscopy findings were normal. On vaginoscopy, numerous macroscopic papillomatous structures were identified on the cervix and vaginal walls. Vaginal biopsies were performed on the areas affected by papillomatosis. Histopathologic examination showed a fibroepithelial polyp with a central fibrovascular core covered by squamous epithelium and vaginal squamous papillomatosis. The decision was made to perform vaginoscopy on her twin sister (twin B), too. On vaginoscopy, solitary small vaginal papillomas were also found. In this case manifestation of vaginal papillomatosis in twins might have been influenced by inheritance and the same bacterial and viral environment.

A crosscut survey on reproductive health in Lithuanian childhood cancer survivors.

OBJECTIVES: Sexual dysfunction was reported to compromise the quality of life in childhood cancer survivors. The aim of our study was to evaluate the reproductive health in long-term pediatric cancer survivors by conducting a crosscut survey. MATERIAL AND METHODS: Childhood cancer survivors over 18 years of age, who were in remission for more than 5 years, were invited to complete a gender-specific questionnaire surveying on their reproductive health. Demographic and treatment data were retrieved from their medical records. Treatment modalities were reviewed for its potential gonadotoxicity. RESULTS: 34 (17 males and 17 females, respectively) from 346 addressed survivors (9.8%) completed the questionnaire. Median age and follow-up after diagnosis was 27 (18-35) and 14 (3-25) years, respectively. Some respondents reported sexual concerns: 11.8% males experienced problems with penetration, two males (11.8%) who underwent semen analysis were found to be azoospermic. Similarly, 11.8% females reported delayed puberty, the average age of menarche was 14 (12-17) years, 29.4% females reported irregular menstrual cycles. Cyclophosphamide equivalent dose (CED) differed significantly between the patients treated for leukemia, lymphoma and solid tumors (3000 vs 4352 vs 6660 mg/m2, respectively, p = 0.014). CONCLUSIONS: Low prevalence of sexual dysfunction, fertility related disorders or delayed puberty in childhood cancer survivors was found. However, the results should be interpreted with caution taking into account a low response rate.

Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.

BACKGROUND: Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy. CASE: We present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy. SUMMARY AND CONCLUSION: Concerning the high risk of early gonadoblastoma and its malignant transformation, we recommend performing prophylactic bilateral gonadectomy at the time of diagnosis, even if the patient is prepubertal.