Mastectomy Research Articles

Abstract P5-08-06: Breastfeeding in Survivors of Early Breast Cancer

Abstract Background: Breast cancer (BC) is the most common malignancy in women of reproductive age, and the incidence of the disease is rising in this population. Many of these women are interested in childbearing after their BC treatment and a substantial minority will go on to have a live birth. Some will also want to breastfeed. However, there is only limited information available regarding the experience of young BC survivors breastfeeding following treatment. Methods: Participants in the Young Women’s Breast Cancer Study (YWS), a multi-center, prospective cohort study of women diagnosed with BC at age ≤ 40 years between 2006-2016, who reported at least one live birth following their diagnosis with stage 0-III BC were sent an additional survey including investigator-developed questions focused on breastfeeding after breast cancer treatment. Women who had been diagnosed with BC during pregnancy were excluded from this analysis. The survey assessed whether they breastfed, reasons for attempting and stopping breastfeeding, breastfeeding with the treated breast and untreated breast, and supports. Summary statistics, including medians and proportions, are presented. Results: Of 118 eligible women sent a survey, 92 completed the survey (78% response rate). Median age at diagnosis of BC was 32 (range: 17-40) years and at delivery was 37 (range: 29-47) years. 54% of women had attempted to breastfeed (50/92). Among those who had not, 93% noted a history of bilateral mastectomies (39/42). Additional reasons for not attempting to breastfeed included no interest regardless of BC history (5%, 2/42) and 1 woman underwent a unilateral mastectomy and did not think her supply would be sufficient. Among the women who did attempt breastfeeding, 68% had undergone lumpectomy and radiotherapy (34/50) with 85% of those women reporting that the treated breast did not produce milk (29/34). The 5 women who produced milk from the treated breast noted that the supply was substantially less than the untreated breast. To assist with breastfeeding, 76% used a pump only on the untreated breast (38/50) and 14% on both breasts (7/50). Women breastfed for a median of 5.5 (range:< 1-60) months and 64% were “somewhat”/“very much” satisfied with their ability to breastfeed (32/50). The most common reasons cited for stopping breastfeeding included having completed the planned duration (36%, 18/50), to start/resume endocrine therapy (22%, 11/50), and to resume breast imaging (8%, 4/50). Among patients who had not undergone a double mastectomy, 47% recalled receiving specific information about breastfeeding after a history of breast cancer (25/53), most commonly from the oncology team (56%, 14/25), lactation consultant (48%, 12/25), or online resources (44%, 11/25). Conclusion: In the largest series to date detailing the breastfeeding experiences of young BC survivors, approximately half of young BC survivors with a successful pregnancy attempted to breastfeed. Among those who had undergone prior lumpectomy and radiotherapy, women reported no milk production or only limited supply from the treated breast. Despite these limitations, most women who attempted to breastfeed were satisfied with their ability to do so. Specific resources to support the experience of breastfeeding in BC survivors are needed. Citation Format: Tal Sella, Kimia Sorouri, Shoshana Rosenberg, Margaret Loucks, Kathryn Ruddy, Shari I. Gelber, Rulla M. Tamimi, Jeffrey M. Peppercorn, Lidia Schapira, Virginia F. Borges, Steven E. Come, Ellen Warner, Ann Partridge. Breastfeeding in Survivors of Early Breast Cancer [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P5-08-06.

Comparing Outcomes in the Therapeutic and Prophylactic Breast for Bilateral Mastectomy With Implant-Based Breast Reconstruction.

Increasingly patients with unilateral breast cancer elect to undergo bilateral mastectomy with subsequent reconstruction. Studies have aimed to better identify the risks associated with performing mastectomy on the noncancerous breast. Our study aims to identify differences in complications between therapeutic and prophylactic mastectomy in patients undergoing implant-based breast reconstruction. A retrospective analysis of implant-based breast reconstruction from 2015 to 2020 at our institution was completed. Patients with less than 6-month follow-up after final implant placement had reconstruction using autologous flaps, expander or implant rupture, metastatic disease requiring device removal, or death before completion of reconstruction were excluded. McNemar test identified differences in incidence of complications for therapeutic and prophylactic breasts. After analysis of 215 patients, we observed no significant difference in incidence of infection, ischemia, or hematoma between the therapeutic and prophylactic sides. Therapeutic mastectomies had higher odds of seroma formation ( P = 0.03; odds ratio, 3.500; 95% confidence interval, 1.099-14.603). Radiation treatment status was analyzed for patients with seroma; 14% of patients unilateral seroma of the therapeutic side underwent radiation (2 of 14), compared with 25% patients with unilateral seroma of the prophylactic side (1 of 4). For patients undergoing mastectomy with implant-based reconstruction, the therapeutic mastectomy side has an increased risk of seroma formation.

Diagnosis, Management, and Surveillance for Patients With PALB2, CHEK2, and ATM Gene Mutations

BackgroundThis study aims to capture clinical and surgical practice patterns of patients with deleterious mutations in partner and localizer of BRCA2 (PALB2), checkpoint kinase 2 (CHEK2) and ataxia telangiesctasia mutated (ATM) genes. Materials and MethodsThis study is a retrospective chart review of patients with PALB2, CHEK2 or ATM mutations. Patient demographics, testing indications, management decisions, and surveillance strategies were recorded. ResultsSixty-two patients were found to have deleterious mutations: 14 (23%) with a PALB2 mutation, 30 (48%) with a CHEK2 mutation, and 18 (29%) patients with an ATM mutation.Thirty-one (50%) patients have a history of breast cancer. Twenty-three patients were diagnosed and treated prior to genetic testing while 8 patients learned of their mutation status and breast cancer diagnosis simultaneously. Of these 8 patients, 4 sought treatment at our institution, 3 underwent bilateral mastectomy, and 1 patient opted for lumpectomy and surveillance.Thirty-one patients had no history of breast cancer. After genetic diagnosis, 3 of the 9 patients who continued clinical follow-up proceeded with bilateral prophylactic mastectomy within 2 years. Clinical surveillance continued for 23 months on average. ConclusionMost patients who learned of their genetic and breast cancer diagnoses simultaneously underwent bilateral mastectomy, whereas only a third of patients without cancer opted for bilateral prophylactic mastectomy.

Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review.

This narrative review aims to clarify the role of breast and gynecological risk-reduction surgery in BRCA mutation carriers. We examine the indications, contraindications, complications, technical aspects, timing, economic impact, ethical issues, and prognostic benefits of the most common prophylactic surgical options from the perspectives of a breast surgeon and a gynecologist. A comprehensive literature review was conducted using the PubMed/Medline, Scopus, and EMBASE databases. The databases were explored from their inceptions to August 2022. Three independent reviewers screened the items and selected those most relevant to this review's scope. BRCA1/2 mutation carriers are significantly more likely to develop breast, ovarian, and serous endometrial cancer. Because of the Angelina effect, there has been a significant increase in bilateral risk-reducing mastectomy (BRRM) since 2013. BRRM and risk-reducing salpingo-oophorectomy (RRSO) significantly reduce the risk of developing breast and ovarian cancer. RRSO has significant side effects, including an impact on fertility and early menopause (i.e., vasomotor symptoms, cardiovascular disease, osteoporosis, cognitive impairment, and sexual dysfunction). Hormonal therapy can help with these symptoms. Because of the lower risk of developing breast cancer in the residual mammary gland tissue after BRRM, estrogen-only treatments have an advantage over an estrogen/progesterone combined treatment. Risk-reducing hysterectomy allows for estrogen-only treatments and lowers the risk of endometrial cancer. Although prophylactic surgery reduces the cancer risk, it has disadvantages associated with early menopause. A multidisciplinary team must carefully inform the woman who chooses this path of the broad spectrum of implications, from cancer risk reduction to hormonal therapies.

Safety and Quality of Life in Women with Immediate Reconstruction with Polyurethane Implants after Neoadjuvant Chemotherapy: Outcomes from The Preq-20 Trial

Various studies have evaluated the impact of neoadjuvant chemotherapy (NAC) on the complications of breast cancer surgery, most of which were retrospective and did not assess the variables related to postoperative risk factors. The aim of this study is to analyse the safety and satisfaction of women included in the PreQ-20 trial who underwent NAC and who underwent mastectomy and immediate reconstruction with prepectoral polyurethane implants. The patients included in the study belong to the prospective study PreQ-20. The study group consisted of patients who underwent immediate reconstruction after primary systemic therapy. The control groups consisted of patients with immediate reconstruction and adjuvant chemotherapy (control group 1) and patients with an infiltrating carcinoma or in situ ductal carcinoma who did not require chemotherapy (control group 2). The study included 157 women, 58 (36.9%) of whom underwent primary systemic therapy. The indication for genetic study was significantly greater for the study group (87.9%) than for control groups 1 (49.1%) or 2 (30.4%). Seventy-two (45.9%) of the patients underwent bilateral mastectomy (BM), a procedure that was performed significantly more frequently in the study group (69%) than in control groups 1 (30.2%) or 2 (34.8%). The incidence rate for BM after complete pathologic response was 78%. There were no statistically significant differences in the number of complications between the groups. Implant loss was significantly more frequent in control group 1 (13.2%) than in the study group (3.4%) and control group 2 (2.2%). Mastectomy with prepectoral polyurethane implant reconstruction in patients with neoadjuvant chemotherapy presented a similar incidence of complications compared with patients who underwent primary surgery. There is a high rate of BM in women with NAC.

Contralateral lymph node metastasis in recurrent ipsilateral breast cancer with Lynch syndrome: a locoregional event

IntroductionContralateral axillary lymph node metastasis (CALNM) in breast cancer (BC) is considered a distant metastasis, marking stage 4cancer. Therefore, it is generally treated as an incurable disease. However, in clinical practice, staging and treatment remain controversial due to a paucity of data, and the St. Gallen 2021 consensus panel recommended a curative approach in patients with oligometastatic disease. Aberrant lymph node (LN) drainage following previous surgery or radiotherapy is common. Therefore, CALNM may be considered a regional event rather than systemic disease, and a re-sentinel procedure aided by lymphoscintigraphy permits adequate regional staging.Case reportHere, we report a 37-year-old patient with Lynch syndrome who presented with CALNM in an ipsilateral relapse of a moderately differentiated invasive ductal BC (ER 90%, PR 30%, HER2 negative, Ki-67 25%, microsatellite stable), 3 years after the initial diagnosis. Lymphoscintigraphy detected a positive sentinel LN in the contralateral axilla despite no sign of LN involvement or distant metastases on FDG PET/CT or MRI. The patient underwent bilateral mastectomy with sentinel node dissection, surgical reconstruction with histological confirmation of the CALNM, left axillary dissection, adjuvant chemotherapy, and anti-hormone therapy. In addition to her regular BC follow-up visits, the patient will undergo annual colonoscopy, gastroscopy, abdominal, and vaginal ultrasound screening. In January 2023, the patient was free of progression for 23 months after initiation of treatment for recurrent BC and CALNM.ConclusionThis case highlights the value of delayed lymphoscintigraphy and the contribution of sentinel procedure for local control in the setting of recurrent BC. Aberrant lymph node drainage following previous surgery may be the underlying cause of CALNM. We propose that CALNM without evidence of systemic metastasis should be considered a regional event in recurrent BC, and thus, a curative approach can be pursued. The next AJCC BC staging should clarify the role of CALNM in recurrent BC to allow for the development of specific treatment guidelines.

The Breast: Premalignant Organ or Functional Gland?

Increasingly, young women are undergoing bilateral mastectomies before the completion of childbearing. This procedure, when performed prematurely, precludes any future lactation. However, not breastfeeding increases maternal and child morbidity and mortality, and carries an overall U.S. financial cost of $18.5 billion per year. The emotional and physical consequences of bilateral mastectomy in this patient population should be more carefully considered, and any prophylactic surgery deferred until childbearing has been completed.

Bilateral mastectomy associated with higher breast cancer mortality among patients with estrogen receptor positive progesterone receptor negative localized breast cancer.

Rates of mastectomy for patients with localized breast cancer remain high despite decades of evidence that breast conservation therapy is equally effective. The impact of progesterone receptor (PR) status on the relative efficacy of surgical extent for localized estrogen receptor (ER) positive breast cancer on breast cancer mortality has not been studied. This retrospective cohort study included patients diagnosed with breast cancer between 1998 and 2015 using data from the Surveillance, Epidemiology and End Results (SEER) program. Female patients aged 40-70 with T1-2N0M0 ER positive breast cancer were included. Patients in this study either underwent lumpectomy without radiation, lumpectomy with radiation, unilateral mastectomy without radiation, or bilateral mastectomy without radiation for their disease. Breast cancer specific mortality was the main outcome of interest, calculated using competing risks methods to estimate cumulative incidence and hazard ratios among the treatment groups. After one-to-one matching, 23,080 patients were included with median follow-up time 7.6 years (interquartile range, 4.0-8.3 years). Median age at diagnosis was 52 years (interquartile range, 47-59 years). Among patients, 19,996 (86.6%) had PR+ disease and 3,084 (13.4%) of patients had PR-. Among patients with PR- disease, bilateral mastectomy was associated with higher cumulative incidence of breast cancer mortality relative to patients undergoing lumpectomy with radiation, with 10-year cumulative incidences of 9.2% [95% confidence interval (CI): 6.6-12.7%] vs. 4.4% (95% CI: 3.0-6.6%). This difference was significant in the adjusted multivariate model [hazard ratio (HR) =1.77; 95% CI: 1.12-2.82; P=0.02]. Bilateral mastectomy was associated with significantly increased risk of breast cancer mortality relative to lumpectomy with radiation for patients with PR- disease. Unilateral mastectomy and lumpectomy without radiation were associated with increased risk for breast cancer mortality relative to lumpectomy with radiation for patients with PR+ disease.

Long-Term Outcomes in Prepectoral versus Subpectoral Two-Stage Implant-Based Breast Reconstruction after Nipple-Sparing Mastectomy.

Implant-based breast reconstruction remains the most often used method following mastectomy, but data are lacking regarding differences in complications and long-term patient-reported outcomes for two-stage subpectoral versus prepectoral reconstruction. This study sought to better understand the risks and impact of these reconstructive approaches on overall satisfaction. Patients who underwent unilateral or bilateral nipple-sparing mastectomy and two-stage implant-based reconstruction from 2014 to 2019 were identified from the electronic medical records and contacted via email to complete the BREAST-Q survey. Overall satisfaction was measured by the question, "How happy are you with the outcome of your breast reconstruction?" using a six-point Likert scale. Patients were grouped into subpectoral or prepectoral cohorts. Complications were evaluated retrospectively. Only patients who were at least 6 months from their final reconstruction were included in the analysis. Of the 582 patients contacted, 206 (35%) responded. The subpectoral ( n = 114) and prepectoral ( n = 38) groups did not differ significantly by demographic or treatment characteristics. BREAST-Q scores were also comparable. Complication rates were similar, but prepectoral patients had a significantly higher rate of capsular contracture (16% versus 4%, P < 0.05). Bivariate ordered logistic regression identified prepectoral implant placement, having any postoperative complication, and capsular contracture as predictors of less overall happiness. The authors' study suggests that prepectoral patients may have slightly higher complication rates but are as satisfied as subpectoral patients after at least a year of follow-up. Further studies should investigate risk factors for capsular contracture, how the risk changes over time, and how the risk affects patient satisfaction.

Bilateral prophylactic mastectomy: should we preserve the pectoral fascia? Protocol of a Dutch double blinded, prospective, randomised controlled pilot study with a within-subject design (PROFAS)

IntroductionBilateral prophylactic mastectomy (BPM) in women with a high risk of developing breast cancer has shown to provide the greatest risk reduction. Many surgical guidelines recommend the removal of the...

Factors Influencing Residual Glandular Breast Tissue after Risk-Reducing Mastectomy in Genetically Predisposed Individuals Detected by MRI Mammography.

This study seeks to evaluate MR imaging morphological factors and other covariates that influence the presence of residual glandular tissue after risk-reducing mastectomy in patients with a familial predisposition. We analyzed women of a high-risk collective with pathogenic mutation (BRCA1 (n = 49), BRCA2 (n = 24), or further mutation (n = 9)). A total of 117 breasts were analyzed, 63 left and 54 right, from a cohort of 81 patients, who were on average 40 years old. The mean follow-up was 63 months (range 12-180 months, SD = 39.67). Retrospective analysis of MR imaging data from 2006-2022 of patients of a high-risk collective (all carriers of a pathogenic mutation) with contralateral (RRCM) or bilateral risk-reducing mastectomy (RRBM) was performed. In the image data the remaining skin flap thickness by distance measurements at eight equally distributed, clockwise points and the retromamillary area, as well as by volumetry of each breast, was elected. Residual glandular tissue was also volumetrized. In addition, patient-related covariates were recorded and their influence on postoperative residual glandular tissue and skin flap thickness was analyzed by uni- and multivariate regressions. A significant association with postoperative residual glandular tissue was shown in multivariate analysis for the independent variables breast density, skin flap mean, and surgical method (all p-values < 0.01). A negatively significant association could be seen for the variables preoperative breast volume (p-values < 0.01) and surgeon experience (most p-values < 0.05-<0.1). Postoperative residual glandular tissue is an important tool for quantifying the risk of developing breast cancer after risk-reducing mastectomy. Different effects on residual glandular tissue were shown for the independent variables breast density, skin flap, surgical method, preoperative breast volume, and surgeon experience, so these should be considered in future surgical procedures preoperatively as well as postoperatively. Breast MRI has proven to be a suitable method to analyze the skin flap as well as the RGT.

Mastectomy is a safe procedure in transgender men with a history of breast reduction

Little is known about the safety and surgical outcomes of mastectomy after breast reduction in the trans male population. Several concerns have been voiced that performing mastectomy with prior breast reduction surgery, increases the risk for complications and revision surgery. All transgender men with a history of breast reduction, who underwent a mastectomy at our center between 01-1990 and 01-2021 were identified from our hospital registry. A retrospective chart study was conducted recording surgical characteristics, surgical complications, revision surgery, and clinical follow-up. A total of 1362 subcutaneous mastectomies were performed between 01-1990 and 01-2021. A total of 36 (2.6%) individuals were included (35 bilateral and 1 unilateral breast reduction). The mean age at mastectomy was 37 ± 10 years, and the median time between breast reduction and mastectomy was 6.3 years (range 1.0–31.1). Most individuals underwent a Wise-pattern breast reduction (91%) and a double incision mastectomy with free nipple grafts (86%). Following mastectomy, one acute reoperation was performed because of hemorrhage (3%). Partial pedicled nipple necrosis was seen in 7% and (partial) non-take of nipple grafts in 4%. Scar revisions were performed in 9%, dogear corrections in 20%, and both nipple corrections, and contour corrections in 6%. When comparing the outcomes in literature for surgical complications, scar revision, contour correction or nipple areolar complex revision, no clear disadvantage seems to be present when performing mastectomy after breast reduction. Mastectomy is a safe procedure in transgender men with a history of breast reduction.

Hereditary diffuse gastric cancer

Due to the increasing research into familial clustering of cancer entities, more and more genes are being identified in which mutations explain this clustering. Mutations in the cadherin 1 (CDH1) and catenin alpha 1 (CTNNA1) genes are considered to be causative for the occurrence of hereditary diffuse gastric cancer. Those affected show an incidence of gastric cancer of around 40% up to the age of80 years and affected women show an incidence of 55% for the occurrence of lobular breast cancer. In 2020 updated international guidelines were published for the clinical management of patients with hereditary diffuse gastric cancer. When the specific test criteria are fulfilled, patients should undergo genetic testing for mutations in the CDH1 and CTNNA1 genes. In cases of the familial occurrence of diffuse gastric cancer and detection of a pathological mutation, a prophylactic total gastrectomy with D1 lymphadenectomy is recommended. Alternatively, or when pathological mutations are not detected, agastroscopy should be performed annually with targeted and random biopsies. The occurrence of lobular breast cancer should be monitored annually by magnetic resonance imaging (MRI) from the age of30 years onwards. A bilateral mastectomy for risk reduction should be discussed in amultidisciplinary setting.

Streamlining and Consistency in Surgery: Lean Six Sigma to Improve Operating Room Efficiency.

Improving perioperative efficiency helps reduce unnecessary surgical expenditure, increase operating room throughput, improve patient safety, and enhance staff and patient satisfaction. Lean Six Sigma (LSS) is a quality improvement model that has been successfully applied to eliminate inefficiencies in the business sector but has not yet been widely adopted in medicine. This study investigates the adaptation of LSS to improve operative efficiency for plastic surgery procedures. The authors followed the define, measure, analyze, improve, and control phases to implement LSS. The key outcome measures gathered were operative times, including the cut-to-close time, and the total time the patient spent in the operating room. The study included a total of 181 patients who underwent immediate bilateral deep inferior epigastric perforator flap breast reconstruction between January of 2016 and December of 2019. The LSS interventions were associated with a decrease in total operative time from 636.36 minutes to 530.35 minutes, and a decrease in the time between incision to closure from 555.16 minutes to 458.85 minutes for a bilateral mastectomy with immediate deep inferior epigastric artery flap breast reconstruction. This study demonstrates that LSS is useful to improve perioperative efficiency during complex plastic surgery procedures. The workflow of the procedure was improved by determining the optimal spatial positioning and distinct roles for each surgeon and preparing surgeon-specific surgical trays. Two process maps were developed to visualize the positioning of the surgeons during each stage of the procedure and depict the parallel workflow that helped improve intraoperative efficiency.

Rates of Bilateral Mastectomy in Patients With Early-Stage Breast Cancer

This cohort study builds on previous research from the National Cancer Database to assess whether rates of bilateral mastectomy continue to increase.

Reconstruction mammaire bilaterale par lambeau de DIEP en deux temps : note technique

With the rise of risk prevention surgery, more and more bilateral mastectomies are performed. These present a challenge when patients desire autologous reconstruction. Some surgeons perform reconstructions using a double DIEP flap, but this technique, which requires rapid operation and extensive experience, can sometimes be difficult to implement. Other factors may also favor a two-stage reconstruction, one breast after the other. We present here our technique to harvest two hemi-DIEP during two distinct operating times, by modifying the design of the first flap and by performing a prior autonomization of the second.

Outcomes of the same-day discharge following mastectomy before, during and after COVID-19 pandemic.

The majority of patients undergoing mastectomy before the COVID-19 pandemic were admitted for 23-hobservation to the hospital. Indications for observation included drain care education, pain control and observation for possible early surgical complications. This study compared the rates of outpatient mastectomy before, during, and after the COVID-19 pandemic and indirectly evaluated the safety of same-day discharge. We retrospectively analyzed patients undergoing mastectomy using Current Procedural Terminology code 19303. A total of 357 patients were included: 113 were treated pre-COVID-19, 82 patients during COVID-19 and 162 post-COVID-19. The rate of outpatient mastectomies tripled during the pandemic from 17% to 51% (p < 0.001); after the pandemic remain high at 48%. The rate of bilateral mastectomies decreased during the pandemic to 30% from 48% prepandemic (p = 0.015). Pectoralis muscle block utilization increased during the COVID-19 period from 36% to 59% (p = 0.002). No difference in complication rates, including surgical site infections, hematomas, and readmissions, pre and during COVID. The rate of outpatient mastectomy increased during the COVID-19 pandemic. During this timeframe, perioperative complications did not increase, suggesting the safety of this practice. After the pandemic, the rate of outpatient mastectomy continued to be significantly higher than pre-COVID.

Metastatic Carcinoma to the Brain with Mucinous Features in a Patient in Remission with History of Breast Lobular Carcinoma Triple Positive: A Case Report

Introduction: Breast cancer remains to be the most frequently diagnosed cancer in woman accounting for more than 2 million cases per year where it can metastasize to several organs in the body with brain metastasis being one of the most dreaded sequelae of it. Whole-brain radiosurgery, with or without surgical resection, or stereotactic radiosurgery remains to be the predominant treatment modality whereby surgical resection is limited to cases having a sole lesion identified or when located in excisable cortical regions. Case description: We presented the case of a 71-year old female patient with history of Lobular carcinoma in situ triple positive with brain metastatic carcinoma with mucinous features consistent with breast origin while being in remission after she underwent bilateral mastectomies 6 years prior to presentation with negative PET scan for any lesion other than that in the brain. Conclusion: Finding of brain metastasis with pathological features discordant with primary pathology of breast cancer, in a patient who is in remission years after undergoing bilateral mastectomies raises the question of the histological differentiation between the metastatic lesion and the primary source at the cellular level, and reflects on the relationship with receptor expression be it PR, ER or HER2.

An approach to the management and care of an individual with 46, XX ovotesticular disorder of sexual differentiation

Ovotesticular disorder of sexual differentiation (OT-DSD) is a rare condition defined by the presence of both testicular and ovarian elements in the same individual. Definitive diagnosis is made based on histological assessment of the gonad/s confirming both ovarian and testicular components. In this paper, we describe how a diagnosis of 46XX, OT-DSD was made in a 20-year-old individual with enlarged breasts and ambiguous genitalia. The initial impression was congenital adrenal hyperplasia (CAH) based on 46, XX karyotype and absence of testes on physical examination and imaging. However, biochemical tests were inconsistent with CAH, hence a more probable diagnosis of 46, XX OT-DSD was considered. The patient suffered from gender dysphoria and after extensive counseling, he decided to undergo gender-affirming surgery: laparoscopic excision of the left gonad, subtotal hysterectomy, bilateral mastectomy, and a masculinizing genitoplasty. Histopathology of the left gonad revealed an ovotestes which confirmed the diagnosis of 46, XX OT-DSD.

Juvenile gigantomastia: Subcutaneous mastectomy with primary reconstruction

Introduction. Gigantomastia is one of the most severe anomalies of the female breasts and is caused by their pathological enlargement. Juvenile gigantomastia (JG) of the breasts is a rare disease of an unknown etiology characterized by a sudden and alarmingly rapid, continued growth of the breasts in puberty. Case report. We present two patients with massive bilateral JG. Both patients had normal hormonal status and denied any other health issues, including a positive family history of gigantomastia. The skin overlying the breasts was red, without ulcerations, and with visibly enlarged superficial veins. The nipples were not well defined from the surrounding skin and were positioned below the level of the umbilicus. Patients were successfully treated with a surgical technique consisting of a bilateral subcutaneous mastectomy with the primary reconstruction of the breasts using polyurethane implants and reconstruction of the nipple by the free nipple graft technique. The histopathological reports from both patients? biopsy specimens presented diffuse hyperplasia of the glandular and stromal tissue. Both patients had excellent esthetic results with minimally visible postoperative scars. Conclusion. Surgical management of JG is the primary means of treatment. This paper presents significant results and effects of plastic surgery, and the applied surgical method can be recommended for the successful management of JG.