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

Rokitansky’ego-Küstera-Hausera Morphology of the neovagina and sexual functioning of patients with Mayer-Rokitansky-Küster-Hauser syndrome who underwent modified Wharton vaginoplasty

Objectives: To evaluate the anatomical results of Wharton vaginoplasty performed with Friebe modification for the surgical correction of vaginal aplasia in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and to assess multidimensionally the sexual functioning of the women. Material and methods: 20 out of 36 patients with MRKH syndrome who underwent surgical creation of neovagina between October 1995 and September 2009 participated in the study. In the group 11 women (55%) had the typical form, 3 women (15%) had the atypical form and 6 women (30%) had the MURCS type of the MRKH syndrome. The dimensions of the vagina (length and width) and the quality of vaginal epithelium (Schiller test) were evaluated. The sexual functioning of the patients was assessed with the Female Sexual Function Index (FSFI) questionnaire and scored in 6 domains (desire, arousal, lubrication, orgasm, satisfaction and pain). Results: The patients underwent the surgery at the median age of 21.7 years (range 16.3-36.6) and were followed–up from 6 months to 11.3 years (median 1.9 years) after the surgery, at the median age of 24.7 years (range 18.3-37.3). The vaginal length and width ranged from 4.5 to 12cm (median 6.3) and from 1.5 to 4cm (median 3), respectively. The total FSFI score and 6 domains scores (medians and ranges) obtained within the group of 18 patients (2 patients reported no sexual activity) were as follows: desire 3.6 (1.2-6), arousal 4.5 (2.4-6), lubrication 5.7 (1.2-6), orgasm 4.2 (1.2-6), satisfaction 5.6 (2.4-6), pain 4.8 (0-6), total score 28.2 (10.8-36). No correlation was found between the vaginal dimensions and the total FSFI scores but in 16 (80%) patients the value of the latter was higher than the cut-off value of 26.55, discriminating women with and without sexual dysfunction. Conclusion: The modified Wharton vaginoplasty enables women with MRKH syndrome to get a functional vagina of normal anatomy

Seksualność kobiety z zespołem Mayera-Rokitanskyego-Küstera-Hausera – opis przypadku

Aplasia or hypoplasia of the uterus and the vagina are pivotal elements of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Psychosexual functioning of women with MRKH syndrome remains to be fully elucidated. Detailed analysis of sexuality of a 31-year-old woman with MRKH syndrome (type MURCS) and with a history of surgical creation of the vagina was performed. Both, biological and psychosocial determinants were investigated in great detail. Genital malformations were found to have significant impact on the sexual identity and sexual behavior of the patient.Zespół Mayera-Rokitanskyego-Küstera-Hausera (MRKH) to zespół wad rozwojowych, którego zasadniczym elementem jest aplazja lub hipoplazja macicy i pochwy. Wiedza na temat seksualności kobiet z zespołem MRKH jest fragmentaryczna, stąd próba szczegółowej, choć jednostkowej analizy tego zagadnienia, z uwzględnieniem współdziałania całości czynników biologicznych i psychospołecznych w jej kształtowaniu. Analizie poddano 31-letnią pacjentkę z postacią MURCS zespołu MRKH, która przebyła operację wytworzenia pochwy. Wady narządów płciowych wpłynęły istotnie na modyfikację tożsamości płciowej i zachowań seksualnych pacjentki

The effect of primary lack of estrogens and the influence of the age at the beginning of estrogen therapy on bone mineral density in patients with Turner’s syndrome

Oceniano gęstość mineralną kości (BMD) kręgosłupa lędźwiowego u kobiet z zespołem Turnera (ZT) w aspekcie wpływu pierwotnej niewydolności jajników i wieku rozpoczęcia substytucyjnej terapii estrogenowo-progestagenowej (EP). U 72 pacjentek z ZT w wieku 12-38 lat , nie leczonych hormonem wzrostu ani lekami anabolicznym, rozpoczęto leczenie EP (2mg estradiolu (E2)) i monitorowanie BMD, które u 34, poddanych ostatecznej analizie, kontynuowano przez 5 lat, uzyskując średnio 20% łączny przyrost BMD (∆BMD), z czego najwięcej po pierwszym (7.5%) i drugim (6.6%) roku leczenia. Przed i w trakcie leczenia monitorowano poziomy E2. Włączenie terapii EP doprowadziło do wzrostu stężenia E2 z 9.2 pg/ml do poziomu porównywalnego z grupą kontrolną (C), ale nie wykazano jego pozytywnej korelacji z BMD. Analiza pacjentek w przedziałach wiekowych (25 lat) wykazała, iż tylko w grupie, która rozpoczęła terapię EP przed 15 rż. co roku obserwowano istotny ∆BMD, natomiast w grupie, która rozpoczęła terapię EP po 20r.ż. nie uzyskano istotnego ∆BMD. Pacjentki z ZT miały istotnie wyższe poziomy markerów metabolizmu kostnego (Ntx i BALP) niż grupa C, przy czym w obu grupach wykazano ich ujemną korelację z wiekiem. Wyniki tych badań wskazują, iż czas rozpoczęcia leczenia estrogenami może determinować jego efekty w odniesieniu do masy kostnej u pacjentek z hipoestrogenizmem, nie tylko w zespole Turnera. Istotny może być również wpływ stosowanej dawki E2.Lumbar spine bone mineral density (BMD) values were measured in women with Turner’s syndrome (TS) and the influence of primary ovarian failure as well as the age at the start of estroprogestins (EP) therapy were considered. EP treatment with 2mg of estradiol (E2) and BMD monitoring were started in 72 and finally continued for 5 years in 34 patients with TS, aged 12-38 years, previously not treated with growth hormone or anabolic steroids. The mean total BMD gain (∆BMD) was 20% and the most significant increase was observed after the first (7.5%) and the second (6.6%) year of the therapy. Before the start and during EP treatment E2 levels were evaluated: they increased from 9.2pg/ml to the values observed in the controls (C) but positive correlation with BMD was not observed. Analysis of TS patients in age brackets (25 years) showed that only in the group that started EP treatment before the age of 15 every year significant ∆BMD was observed. The group that started EP therapy after the age of 20 didn’t achieve significant ∆BMD. Patients wit TS had significantly higher levels of bone metabolism markers (Ntx and BALP) than the controls and in both groups negative correlation with age was found. On the basis of the results the conclusion was made that in hypoestrogenic women, not exclusively TS, the age when estrogen therapy is started may determine the effects in relation to bone mass. The administered E2 doses may also be important

Victims of child sexual abuse as a problem in adolescent gynecology

W ginekologii wieku rozwojowego potrzebna jest szczególna empatia, delikatność, atmosfera zrozumienia i intymności - zwłaszcza dotyczy to badania dziewcząt molestowanych seksualnie. Każde działanie lekarskie musi być ściśle dostosowane do wieku pacjentki, do etapu jej rozwoju zarówno fizycznego, jak i psychicznego oraz do zdarzenia molestowania, jakie według wywiadu miało miejsce. Wobec molestowania seksualnego dzieci istnieje konieczność wdrożenia pewnego schematu postępowania lekarskiego, aby w trudnej emocjonalnie sytuacji podejrzenia wykorzystania seksualnego dziecka dokonać wszystkich niezbędnych czynności, umożliwiających uwiarygodnienie rozpoznania nadużycia seksualnego i długofalową pomoc dziecku, jednocześnie nie narażając go na dodatkowe urazy. W latach 1993-2005 w Poradni Ginekologii Dziecięcej stwierdzono 61 przypadków podejrzeń molestowania seksualnego nieletnich. Niezależnie od urazów fizycznych po molestowaniu seksualnym zawsze pozostaje uraz psychiczny, co obserwowano również w badanej grupie pacjentek. Oprócz opieki ginekologicznej wdrożono opiekę pedagogiczną, psychologiczną, a w niektórych przypadkach i psychiatryczną nad ofiarami przemocy seksualnej i ich rodzinami.A friendly atmosphere, empathy, intimacy and delicacy are needed in gynecological practice for adolescents, especially in examining sexually molested children. Every medical procedure should be precisely adjusted to child;s physical and psychical stage of development and should be specific to the type of reported abuse. A well prepared, established pattern of management with victims for health-care providers is required enabling to take a proper history and perform precise examination in emotionally stigmated children. Much should be done to avoid additional trauma, what is important for further individual therapy, and at the same time to authenticate the abuse. 61 suspected victims of sexual abuse were evaluated in the Adolescent Gynecology Outpatient Clinic in 1993-2005. Despite physical lesions, deep emotional trauma was observed as a main outcome in the follow-up in this group. A long-time, complex care, including medical, psychological and sometimes psychiatric care should be offered to sexually abused children

Sexuological and gynecological problems connected with labial hypertrophy — a patient with Freeman-Sheldon

Wstęp. Przerosłe wargi sromowe mniejsze u kobiet są przyczyną poczucia braku atrakcyjności. Materiał i metody. Analiza 22 przypadków pacjentek zprzerostem warg sromowych mniejszych z uwzględnieniem pacjentki z przerostem warg sromowych mniejszych współwystępującym z zespołem Freemana-Sheldona. Wyniki. Zespół Freemana-Sheldona jest rzadko występującym wrodzonym zespołem związanym z licznymi wadami wielonarządowymi, między innymi dotyczącymi szkieletu, okolicy mózgowo-twarzowej czaszki. U opisanej pacjentki przerost warg sromowych mniejszych był dodatkowym problemem ginekologicznym i seksuologicznym. Wnioski. Leczenie pacjentek z przerostem warg sromowych mniejszych, które zastosowano z dobrym skutkiem, obejmowało operację plastyczną.Introduction. In women abnormally large of labia pudendi minora can cause significant concern who may consider themselves physically deformed and unattractive. Material and methods. 22 patients with congenital hypertrophy of the labia minora is presented — one patient with hypertrophy of the labia minora and with Freeman-Sheldon syndrome is presented. Results. Freeman-Sheldon syndrome is a rare inherited disorder connected with skeletal malformations and multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet. In our patient with Freeman Sheldon syndrome, hyperplastic labia pudendi minora was here additional gynecological and sexuological problem. Conclusion. The surgical procedure of labial reduction (labiaplasty, female genital surgery, labial contouring, labial reshaping) goes by other names as well

Fat-to-glucose interconversion by hydrodynamic transfer of two glyoxylate cycle enzyme genes

The glyoxylate cycle, which is well characterized in higher plants and some microorganisms but not in vertebrates, is able to bypass the citric acid cycle to achieve fat-to-carbohydrate interconversion. In this context, the hydrodynamic transfer of two glyoxylate cycle enzymes, such as isocytrate lyase (ICL) and malate synthase (MS), could accomplish the shift of using fat for the synthesis of glucose. Therefore, 20 mice weighing 23.37 ± 0.96 g were hydrodinamically gene transferred by administering into the tail vein a bolus with ICL and MS. After 36 hours, body weight, plasma glucose, respiratory quotient and energy expenditure were measured. The respiratory quotient was increased by gene transfer, which suggests that a higher carbohydrate/lipid ratio is oxidized in such animals. This application could help, if adequate protocols are designed, to induce fat utilization for glucose synthesis, which might be eventually useful to reduce body fat depots in situations of obesity and diabetes

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

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, 17β-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