Journal of pediatric and adolescent gynecology最新文献

Background: Prophylactic gonadectomy has been historically recommended postpubertally for individuals with complete androgen insensitivity syndrome (CAIS) to mitigate gonadal malignancy risk. It is recognized that a proportion of individuals with CAIS choose to live with the risk of malignancy rather than undergo gonadectomy and subsequent long-term hormone treatment.

Methods: This retrospective study included all new postpubertal patients with CAIS seen between 2000 and 2025 at a single UK differences of sex development center. Demographic characteristics, presentation, histopathology, gonadal surveillance, and psychological data were reviewed. Descriptive statistics were used, with temporal trends analyzed using linear and logistic regression.

Results: This study included 187 patients diagnosed with CAIS, of whom 89/187 (47.6%) had genetic testing identifying a mutation affecting their androgen receptor gene. At review, 28/187 (15.0%) retained their gonads, with a significant increase in gonadal retention over time (P = .002). In the last 5 years, 76.5% opted for retention. Among the 28 individuals who chose to retain their gonads, 24/28 (85%) had a psychological review, with themes explored including identity, secrecy, repression of CAIS, health-related anxiety, and negative health care experiences. Of the group who had undergone gonadectomy (159/187, 85%), the median age at surgery was 17 years (IQR = 6-19), with a temporal trend toward increasing age at time of gonadectomy over time (P < .001). Of those with a confirmed androgen receptor mutation (n = 89) who underwent gonadectomy (40/89, 44.9%), histopathology was available in 40/89 (44.9%): malignancy was found in 1 (4.0%), precursor lesions in 4 (10.0%), and benign gonadal lesions in 22 (55%), most commonly Sertoli adenoma (18/40, 45%).

Conclusion: An increasing proportion of individuals with CAIS are choosing to retain their gonads rather than have postpubertal gonadectomy. Malignancy incidence in this cohort was low, consistent with recent literature. Further work should explore decision-making factors and how gonadal function and malignancy risk in CAIS change through adulthood.

Study objective: To evaluate the efficacy and tolerability of the gonadotropin-releasing hormone antagonist elagolix for endometriosis-associated pain symptoms in adolescents and young adults (AYAs) METHODS: We performed a retrospective cohort study of AYAs with laparoscopically confirmed endometriosis prescribed elagolix between November 2018 and December 2024 at a pediatric tertiary care center. Data from the electronic medical record included demographic and clinical characteristics, previous hormonal therapies, elagolix dose and use of add-back therapy, symptom response, and adverse effects. Primary outcomes were patient-reported symptom improvement and treatment discontinuation. The study was deemed IRB exempt.

Results: Nineteen patients began taking elagolix, median age 18 years (IQR = 16-21). Endometriosis stage was I in 8 patients (42%), II in 10 (52%), and III in 1 (5%). All patients had previously tried 2 or more hormonal therapies, most commonly the levonorgestrel intrauterine device and norethindrone acetate (68% each). Of patients treated with elagolix, add-back therapy was used in 58%, primarily norethindrone acetate. Overall, 53% reported some improvement; dysmenorrhea and pelvic pain improved in 42% and 53%, respectively. Adverse events included persistent pelvic pain (37%), unpredictable bleeding (26%), and mood changes (16%). No serious adverse events occurred. Discontinuation occurred in 95% of patients, most commonly due to persistent pain and mood changes. The median treatment duration was 5.5 months (IQR = 3-12).

Conclusion: In this small cohort, elagolix was associated with modest symptom improvement but high discontinuation rates in AYAs with endometriosis. Larger prospective studies are needed to define its role in the long-term management of adolescent endometriosis.

Study objective: to determine feasibility of nurse practitioner (NP) led vaginal dilator therapy as an alternative to pediatric gynecologist-led therapy and create an evidence-based model of care.

Methods: This is a retrospective, brief report. Electronic medical records were searched using ICD codes for vaginal and uterine agenesis. Patients were included who had participated in vaginal dilator therapy led by a pediatric gynecologist or by an NP in the Access Clinic at BC Women's Hospital. The primary outcomes were patient satisfaction, change in vaginal length, and sexual function throughout treatment. We collected visit details, including number and timing of visits, prescribed dilation schedule.

Results: Fourteen patients were included from 15 to 33 years of age. The most common diagnosis was MRKH (93%). 86% of patients were unsatisfied with their sexual activity and vaginal length before treatment. The mean starting vaginal length was 3.4 cm (range 2-5 cm) and the mean vaginal length at completion was 6.75 cm (range 3-10 cm), P < .001. The functional success rate was 85.7% overall, 80% for those followed by pediatric gynecology alone, and 89% for those followed primarily by NPs. Patients were followed for a mean of 15.6 months with a mean of 4.7 visits prior to discharge. Optimal spacing between visits was monthly, with a dilation schedule of one to two times per day for 10 minutes.

Conclusion: NP led vaginal dilator therapy is a comparable alternative to pediatric gynecology-led therapy. This is a reasonable option to increase access to care for patients with vaginal agenesis.

Introduction: 46,XY gonadal dysgenesis is a rare difference of sex development in which individuals have female external genitalia despite a 46,XY karyotype. Pathogenic variants in genes involved in testis determination and differentiation may underlie the condition and should be considered in the evaluation of primary amenorrhea.

Case: A 14-year-old girl presented with primary amenorrhea. Hormonal evaluation revealed hypergonadotropic hypogonadism, and imaging demonstrated absence of the uterus and ovaries. Gonadectomy specimens demonstrated testicular tissue. Genetic analysis identified a novel homozygous missense likely pathogenic variant in the Desert Hedgehog (DHH) gene (NM_021044.4:c.983T>C; p.Leu328Pro).

Conclusion: The DHH gene plays a critical role in testis differentiation, and pathogenic variants may result in 46,XY gonadal dysgenesis. Hormone replacement therapy and long-term multidisciplinary follow-up are essential components of management.

Menstrual health is a critical aspect of adolescent development, which encompasses physical, psychological, and social dimensions. While menstruation is a natural physiological process, problems such as dysmenorrhea and heavy menstrual bleeding can negatively affect the quality of life of an adolescent. Early education and timely recognition of menstrual problems are thus important. However, adolescent menstrual health needs remain unaddressed across diverse culture contexts and are underrecognized in low-income countries. Parents, particularly mothers, are often the primary source of information, yet their knowledge can vary greatly. This narrative review explores the current literature on parental knowledge about adolescent menstruation. Twenty-two qualitative and quantitative studies were synthesised, spanning diverse geographic, cultural, and socioeconomic contexts. Three main themes were identified: (1) parental knowledge of adolescent menstruation, (2) parent-adolescent communication, and (3) unmet parental needs. Parental knowledge was often limited to menarche and hygiene in many low- and middle- income countries. In high income countries, two Australian studies reported limited parental knowledge in recognising the severity of, and seeking management of, dysmenorrhea and heavy menstrual bleeding. Across countries, communication was constrained by limited knowledge, stigma, and discomfort. Strengthening parental knowledge is important to promote timely health-seeking behaviours, minimise stigma across cultures, and improve adolescent menstrual health.

Background: Omphalocele, cloacal exstrophy, imperforate anus, and spinal anomaly (OEIS) complex is a severe congenital defect that is associated with müllerian anomalies and duplicated external genitalia. The creation of a neovagina for these patients is dependent on the extent of congenital malformations, available native tissue, age at reconstruction, and presence of functional müllerian structures.

Case: We present a patient diagnosed with OEIS with bilateral hemivaginas inserted into the bladder plate. We describe the use of urinary bladder tissue to separate the reproductive and urinary tracts, maintaining known patent müllerian systems.

Conclusion: This case highlights a unique anomaly in which the bladder and hemivaginas are intimately connected, as well as the use of conveniently available urinary bladder tissue for the creation of a neovagina.

Study objective: To investigate which factors influence adolescents' participation in gynecologic research.

Methods: A qualitative study utilizing four online focus group discussions (FGDs), each including three postmenarchal female adolescents between 10 and 22 years old, was conducted between March and May 2024 in the Netherlands. Participants were purposively selected to ensure diversity in ethnicity and education level, including those who had declined participation in a previous scientific study but agreed to this one. FGDs were recorded, verbatim transcribed, and thematically analyzed, using an artful interpretive approach (Big Q/non-positivist), to determine the factors influencing adolescents' participation in gynecologic research.

Results: The four identified factors were intrinsic motivation, extrinsic motivation, time investment, and reliability. Adolescents experienced a lower threshold to participate in research if the subject of the research was interesting to them, if they benefited - in any form- from participating, if the research was conducted by someone they knew personally and was hence more trustworthy to them, and if their participation was helpful to someone they knew. Adolescents can be motivated extrinsically when they perceive participation as mandatory or if they receive financial compensation. Adolescents are more willing to participate in research when it requires minimal time and personal involvement. When using social media, with short, visually appealing posts, to reach adolescents, careful consideration must be given to becoming part of their content stream and from which account it is posted to facilitate adolescents' trust.

Conclusion: The perspectives of adolescents regarding participation in gynecologic research can be used to enhance adolescent engagement in research.

Study objective: To determine the characteristics of adolescent and young adult patients undergoing surgery for severe endometriosis METHODS: We analyzed the British Society for Gynaecological Endoscopy (BSGE) database, a multicenter database of research-consented patients undergoing excision of surgically confirmed deep endometriosis, from 2009 to 2021, which includes prospectively collected preoperative questionnaire data and intraoperative findings reported by the surgical team during laparoscopy. Patients were divided into adolescent (10-19 years), young adult (20-24 years), and older adult (≥25 years) groups. Preoperative questionnaires and intraoperative findings were compared between groups.

Results: The study included 14,670 patients from 104 specialist endometriosis centers, of whom 186 were adolescents and 892 were young adults. Young adults had worse premenstrual and menstrual pain, dyspareunia, dysuria, and bladder voiding difficulty than older adults, despite higher use of hormonal contraceptives (35.1% vs 17.7%, P < .001) and opioids (32.5% vs 27.8%, P = .004). Adolescent patients had lower prevalence of bowel (66.7% vs 81.1%, P < .001), ovarian (30.6% vs 51%, P < .001), deep sidewall (65.1% vs 78.1%, P < .001), and uterosacral ligament endometriosis (74.2% vs 85.0%, P < .001) compared with older adults. The same was true for young adults, who also had higher rates of superficial disease (79.7% vs 70.9%, P < .001) than older adults. Older adults had a higher number of pelvic sites affected by endometriosis than adolescents (6.0 vs 4.57, P < .001) and young adults (6.0 vs 4.9, P < .001).

Conclusion: Adolescent and young adult patients undergoing endometriosis surgery report severe preoperative symptoms but have fewer anatomical sites affected and fewer deep endometriotic lesions than older adults. These findings highlight differences in lesion distribution that warrant further investigation into disease progression.

Objective: To evaluate the effectiveness and safety of transcutaneous posterior tibial nerve stimulation (TC-TNS) to treat primary dysmenorrhea in adolescents METHODS: A double-blind, block-randomized controlled clinical trial, approved by the local Ethical Committee, was conducted. Adolescents between 12 and 19 years old with menstrual pain were included. Patients with secondary dysmenorrhea, who used hormonal contraception or intrauterine devices, who were pregnant, who requested contraception, who had contraindications to use nonsteroidal anti-inflammatory drugs, or who had intellectual disabilities were excluded. A total of 87 adolescents were randomized into 2 groups: group 1 received mefenamic acid during the first 3 days of the menstrual cycle and sham TC-TNS sessions (30 minutes each) 3 times per week for 8 weeks, and group 2 received an oral placebo during the first 3 days of menstruation and active TC-TNS sessions (30 minutes each) 3 times per week for 8 weeks. Clinical evaluations were conducted after 4 and 8 weeks. The main outcome was the reduction in menstrual pain, assessed with the visual analog scale.

Results: Both groups experienced clinically significant relief of their pain, with no differences between the groups.

Conclusion: TC-TNS produces a reduction in primary dysmenorrhea in adolescents that is comparable to the effect achieved by mefenamic acid and could be considered as a therapeutic alternative, as it is free of adverse effects and self-applicable.