Stabilised Hyaluronic Acid (sHA) gel as a novel marker for breast cancer tumour bed cavity: Surgical feasibility.

Introduction: Consistent delineation of the breast conserving surgery (BCS) tumour bed (TB) for breast cancer remains a challenge for radiation oncologists. Accurate delineation allows for better local control and reduces toxicity when planning partial breast or TB boost radiation therapy (RT). Methods: In the operating theatre (OT) breast surgeons inserted stabilised hyaluronic acid (sHA) gel as small drops approximately one cm into the walls surrounding the resection cavity. Surgical feasibility was determined by the rate of successful sHA gel insertion procedure, the ease of insertion as rated by surgeons, the time required for insertion procedure, the quantity used, and any adverse events (AE) relating to sHA gel insertion. Results: Thirty-five patients were enrolled. All patients underwent sHA gel insertion successfully. The procedure added a median of 2.8 min to the OT time and was rated as 'easy' in 89 % of patients. There were no immediate AE in OT. Five (14 %) patients experienced a grade 2 or higher AE. Three of the five patients were prescribed oral antibiotics for breast infection. Two of the five patients experienced a grade 3 AE - haematoma which required evacuation in OT day 1 post-BCS, and infected seroma which required drainage and washout in OT 2 months post-BCS. All five patients recovered and underwent the planned adjuvant therapies for their BC. The AE data reflects common risks with standard BCS and are not clearly attributed to sHA gel insertion alone. Conclusion: We show that sHA gel is surgically feasible as a marker to help define the TB cavity for post-BCS adjuvant MRI-based RT planning.

Pathologic Complete Response and Oncologic Outcomes in Locally Advanced Breast Cancers Treated With Neoadjuvant Radiation Therapy: An Australian Perspective.

PURPOSE: To assess the degree of pathologic complete response (pCR), postoperative surgical complication rates, and oncological outcomes in women with locally advanced breast cancer or high-risk breast cancers treated with neoadjuvant radiation therapy (NART). METHODS AND MATERIALS: This retrospective, multi-institutional review involved 138 clinically staged patients with 140 breast cancers treated with NART between January 2014 and February 2021. Treatments involved sequential neoadjuvant chemotherapy and NART, followed by mastectomy with or without axillary surgery and immediate autologous breast reconstruction. Descriptive statistics were used to assess patient and disease features, treatment regimens, pathologic response, and factors affecting postoperative complications. Kaplan-Meier curves were performed to assess locoregional recurrence-free, distant metastasis-free, and overall survival outcomes. RESULTS: Median age was 47 years (interquartile range, 42-52). The median follow-up was 35.2 months (interquartile range, 17.1-46.5). pCR was achieved in 36.4% (as defined by Chevallier classification) or 42.1% (as defined by Miller-Payne scores) of patients. Greater pCR rates were achieved for HER2+ (73.8%-85.7%) and triple-negative phenotypes (47.6%-57.1%). There were 21 grade 3 surgical complications including 10 grade 3B breast events and 8 grade 3B donor-site events, where surgical reintervention was required. At 3-years' follow-up, the locoregional recurrence-free survival was 98.1%, distant metastasis-free survival was 83.6%, and overall survival was 95.3%%. CONCLUSIONS: NART is feasible to facilitate a single-stage mastectomy and immediate autologous breast reconstruction. This study demonstrated comparable rates of postoperative complication to standard of care, and high rates of pCR, which translates to high rates of locoregional control, distant metastasis-free survival, and overall survival.

A survey of Australian and New Zealand medical parents' experiences of infertility, pregnancy, and parenthood.

Objective: To describe the incidence of infertility, pregnancy complications, and breastfeeding practices among Australian and New Zealand doctors and identify factors associated with increased pregnancy complication rates. Methods: A survey of ANZ doctors using an online questionnaire during November 2021. Results: One thousand ninety-nine completed responses were received. The median age of female doctors at the time of their first child was 32.4. Fertility testing was undertaken by 37%, with 27% having in vitro fertilization. More than 60% of respondents delayed family planning due to work. Pregnancy loss occurred in 36% of respondents, and 50% suffered a pregnancy complication. There were significant differences between specialists, with surgeons working longer hours before and after pregnancy, but having greater access to maternity leave than general practitioners. Conclusion: Female doctors delay starting and completing their family due to work-related demands and structural biases in career progression, which may result in higher infertility and pregnancy complication rates.

STEP-WISE APPROACH TO THE MANAGEMENT OF SUBMACULAR HEMORRHAGE USING PNEUMATIC DISPLACEMENT AND VITRECTOMY: The Manchester Protocol.

PURPOSE: To evaluate a sequential approach of pneumatic displacement followed by vitrectomy (pars plana vitrectomy) in failed cases to deal with submacular hemorrhage (SMH) of various etiologies. METHODS: Retrospective, nonrandomized interventional case series of consecutive patients with SMH of up to 2 weeks' duration, who were treated with a stepwise approach. Step 1 involved intravitreal injection of 0.3 mL 100% C3F8 and recombinant tissue plasminogen activator 50 µg/0.1 mL. If unsuccessful, a prompt pars plana vitrectomy with subretinal recombinant tissue plasminogen activator 50 µg/0.1 mL and 20% SF6 gas tamponade was performed as a second attempt to displace the SMH. RESULTS: Thirty-one patients with SMH underwent pneumatic displacement; 24 (77.4%) had a successful outcome without further intervention. The mean presenting visual acuity of the "successful cohort" was 1.34 logMAR (20/440 Snellen), improving to 0.83 logMAR (20/135 Snellen) 1 month after treatment. Five of the seven patients with failed pneumatic displacement underwent pars plana vitrectomy with subretinal recombinant tissue plasminogen activator at an average of 5 days poststep 1, with successful SMH displacement in 3 patients, giving an overall success of 87.1% for this treatment protocol. CONCLUSION: A sequential approach of expansile gas injection followed by prompt pars plana vitrectomy, aided by recombinant tissue plasminogen activator at both steps, is a coherent, logical pathway to treat SMH with high anatomical and functional success.

Neoadjuvant radiotherapy for locally advanced and high-risk breast cancer.

INTRODUCTION: Neoadjuvant radiotherapy (NART) as part of a multi-modality approach for locally advanced breast cancer (LABC) requires further investigation. Importantly, this approach may allow for a single-staged surgical procedure, with mastectomy and immediate autologous reconstruction. Multiple other potential benefits of NART include improved pathological downstaging of breast disease, reduced overall treatment time, elimination of time period with breast tissue deficit and improved patient satisfaction. METHODS: This is a retrospective multi-institutional review of patients with LABC and high-risk breast disease undergoing NART. Eligible patients sequentially underwent neoadjuvant chemotherapy (NACT) with or without HER2-targeted therapy, NART, followed by mastectomy with immediate autologous breast reconstruction (BR) 4- to 6 weeks post-completion of radiotherapy. Patient and tumour characteristics were analysed using descriptive statistics. Surgical complications were assessed using the Clavien-Dindo Classification (Ann Surg 2004; 240: 205). RESULTS: From 3/2013 to 9/2019, 153 patients were treated with NART. The median age was 47 years (IQR 42-52), with median body mass index of 27. Eighteen patients experienced Grade 3 acute surgical complications. This included 13 Grade 3B breast-site events and 9 Grade 3B donor-site events, where further surgical intervention was required for management of wound infection, wound dehiscence, flap or mastectomy skin necrosis, haematoma and internal mammary venous anastomotic thrombosis. No autologous flap loss was observed. CONCLUSION: Neoadjuvant radiotherapy facilitates a single-stage surgical procedure with mastectomy and immediate autologous BR, eliminating the delay to reconstructive surgery and thus shortening a woman's breast cancer journey. The findings of this review support the use of NART, with comparable rates of surgical complications to standard sequencing.

Changing clinical patterns of Rhegmatogeneous Retinal Detachments during the COVID19 pandemic lockdown in the North West of the UK.

INTRODUCTION: The UK Government imposed a COVID19 lockdown (LD) restricting all but essential activities from 24th March 2020. Subsequently, there has been a significant reduction in casualty attendances nationwide including for ophthalmic emergencies. We aim to study the presentation of rhegmatogenous retinal detachments (RRD) and significant vitreous haemorrhage caused by posterior vitreous detachment (PVD-VH) in three tertiary centres covering most of the North West of England in the 6 weeks before and during the lockdown. METHODS: A retrospective multicenter non-randomised consecutive case series study was designed to collect information on all cases of RRD and PVD-VH requiring surgery presenting to the vitreoretinal departments of Manchester Royal Eye Hospital, East Lancashire NHS Foundation Trust and the Lancashire NHS Foundation Trust from 11th February to 4th May 2020. RESULTS: A total of 137 eyes of 137 patients were identified between the three centres of which 132 eyes were operated for RRD. Of these, 86 (64.7%) were operated pre-LD compared with 46 eyes (34.8%) during LD. Forty-five out of 86 eyes (52.3%) were macula-off pre-LD compared with 31 out of 46 eyes (67.3%) during LD (p = 0.06). There was lower proportion of non-PVD related RRD during LD (11 pre-LD to 1 during LD, p = 0.05). PVR was present in four cases during LD compared to 2 before (p = 0.19). CONCLUSION: There was a clinically significant reduction in the overall incidence of RRD in our centres with an increase in the proportion of macula-off and proliferative vitreoretinopathy during the LD period compared to a similar period before.

Breast ultrasound in breast cancer surveillance; incremental cancers found at what cost?

PURPOSE: To determine the diagnostic parameters of breast ultrasound (US) in the setting of routine radiological surveillance after a diagnosis of breast cancer and evaluate costs of the inclusion of breast US as well as any survival benefit of US detected cases of recurrence in surveillance. METHODS: 622 patients underwent breast cancer surgery and follow up at Austin Health from July 2009 to December 2015. Retrospective data analysis was performed to determine; diagnostic parameters, financial costs of US and survival outcomes of US detected cases of recurrence. RESULTS: Patients underwent 1-9 years of breast cancer surveillance, with a median of 4.24 years. 390 (62.7%) patients underwent additional breast US surveillance to mammography. 232 (38.3%) fit criteria for use of additional breast US. 199 abnormal imaging episodes occurred, leading to 16 screen detected-cases of locoregional recurrence. US alone generated 107 abnormal images and found 9 cancers. US had a sensitivity of 44.1%, specificity of 95.2% and positive predictive value of 11.7% in comparison to mammography; 20.6%, 97.4% and 9.9% respectively. US had a biopsy rate of 4.0% and lead to an incremental cancer detection rate of 0.38%. The cost of incremental cancer found was $31,463.72 AUD. Survival outcomes based on method of detection of recurrence were insignificant (p value = 0.71). CONCLUSIONS: Breast US has a sensitivity of 44.1% and detected seven recurrences that were mammographically occult. Breast US has a similar PPV to mammography in surveillance. Breast US generated considerable biopsy rates and costs. Survival analysis was not able to detect any benefit of US detected cases of recurrence.

"First Do No Harm": Significance of Delays from Diagnosis to Surgery in Patients with Non-metastatic Breast Cancer.

BACKGROUND: The majority of patients with non-metastatic breast cancer will undergo surgery. This involves complex decisions that inevitably increase time from diagnosis to surgery beyond the currently recommended 30 days. This study aims to analyse factors that increase time to surgery and establish whether it is justifiable in the context of improved individualised breast cancer management. METHODS: A retrospective analysis of all patients at Austin Health surgically managed for non-metastatic invasive breast carcinoma between 2013 and 2019 was conducted. Time to surgery (TTS) was defined as time between informed diagnosis and cancer surgery. The patients were grouped into TTS groups of ≤30 days and >30 days. Kaplan-Meier survival analysis and Cox proportional hazards regression model were used to evaluate the impact of time interval between diagnosis and surgery. RESULTS: Seven hundred and thirty-one patients were included in our TTS analysis, only half of this cohort received surgery within the recommended 30 days. Many of the factors identified to be associated with increased TTS are the key to optimal management. Median follow-up for the cohort was 30 months. Between wait groups of ≤30 and >30 days, there were no significant association found between TTS and survival outcomes for DFS (HR 1.20 95% CI 0.56-2.60) and OS (HR 1.58 95% CI 0.82-3.03). CONCLUSION: Breast cancer management involves complex factors that significantly increase TTS. Surgery within 30 days of diagnosis is not associated with improved DFS and OS. Outcomes from this study support a revision of current recommendations for TTS in non-metastatic breast cancer care.

Silicone nipple discharge: A case report of an unusual presentation of breast implant rupture.

INTRODUCTION: Breast implant rupture is a well-documented complication of breast implant surgery. Diagnosis of ruptured silicone implants can be difficult due to the lack of overt symptoms. This is the first reported case of a patient with silicone breast implant rupture presenting with clear nipple discharge and is presented in line with SCARCE 2018 Guidelines [1]. PRESENTATION OF CASE: A 45-year-old-female was referred to a breast surgeon with viscous clear nipple discharge, on a background of bilateral mastopexy-augmentation surgery 10 years prior. Imaging revealed extensive intraductal and free silicone causing significant stromal deformity secondary to breast implant rupture. Cytology of the nipple discharge was consistent with silicone gel. The patient was also found to have fibroadenoma without atypia in the right breast. She underwent an oncoplastic excision of free silicone and change of bilateral breast implants by a team of breast and plastic surgeons. DISCUSSION: With breast implants being an increasingly common procedure worldwide, we can expect an increase in these unusual presentations. Clinicians and patients need to be aware of these in order to avoid an unnecessary delay in diagnosis. CONCLUSION: Silicone implant rupture is a well-known complication and the rate of rupture increases over the life of the implant. Diagnosis of ruptured silicone implants is rare on clinical examination however remains an essential component of a doctor's examination of the patient and nipple discharge must be considered a symptom of rupture.

Small bowel obstruction with multiple perforations post chestnut ingestion.

Phytobezoars are a rare cause of small bowel obstruction (SBO), which consists of vegetable matter such as seeds, skins, fibres of fruit and vegetables that have solidified. We present the case of a 61-year-old man with no previous surgery who presented with central abdominal pain, nausea and vomiting. An abdominal CT scan demonstrated SBO with a transition point in the left anterior abdomen. He proceeded to a laparoscopy, which revealed multiple perforations throughout the small bowel, from the proximal jejunum to the terminal ileum. Laparotomy was performed, and undigested chestnuts were milked out through the largest perforation and the perforations were oversewn. While obstruction due to phytobezoars is rare, this case demonstrates the importance of considering small bowel trauma and perforation due to phytobezoars and highlights the need for close inspection of the entire gastrointestinal tract for complications in the setting of phytobezoar-related bowel obstruction.

High mammographic density in women is associated with protumor inflammation.

BACKGROUND: Epidemiological studies have consistently shown that increased mammographic density (MD) is a strong risk factor for breast cancer. We previously observed an elevated number of vimentin+/CD45+ leukocytes in high MD (HMD) epithelium. In the present study, we aimed to investigate the subtypes of immune cell infiltrates in HMD and low MD (LMD) breast tissue. METHODS: Fifty-four women undergoing prophylactic mastectomy at Peter MacCallum Cancer Centre or St. Vincent's Hospital were enrolled. Upon completion of mastectomy, HMD and LMD areas were resected under radiological guidance in collaboration with BreastScreen Victoria and were subsequently fixed, processed, and sectioned. Fifteen paired HMD and LMD specimens were further selected according to their fibroglandular characteristics (reasonable amount [> 20%] of tissue per block on H&E stains) for subsequent IHC analysis of immune cell infiltration. RESULTS: Overall, immune cell infiltrates were predominantly present in breast ducts and lobules rather than in the stroma, with CD68+ macrophages and CD20+ B lymphocytes also surrounding the vasculature. Macrophages, dendritic cells (DCs), B lymphocytes, and programmed cell death protein 1 (PD-1) expression were significantly increased in HMD epithelium compared with LMD. Moreover, significantly higher levels of DCs, CD4+ T cells, and PD-1 were also observed in HMD stroma than in LMD stroma. The increased expression of interleukin (IL)-6 and IL-4, with unaltered interferon-γ, indicate a proinflammatory microenvironment. CONCLUSIONS: Our work indicates that the immune system may be activated very early in breast cancer development and may in part underpin the breast cancer risk associated with HMD.

Analysis and Outcomes of Cataract Surgery in Patients with Acquired Immunodeficiency Syndrome.

PURPOSE: To investigate the surgical outcomes, complications and postoperative progression in HIV patients undergoing cataract surgery in a teaching hospital. METHODS: A retrospective cohort study of patients with HIV/AIDS who had cataract surgery from January 2000 until December 2011 at a tertiary referral multidisciplinary hospital in Singapore. RESULTS: We identified 44 eyes from 29 patients. Preoperatively, 41.3% had no ophthalmic manifestations of HIV/AIDS, while 16 eyes had quiescent cytomegalovirus retinitis (CMVR). Postoperatively, 1 eye developed new CMVR, while 1 eye had reactivation of previous CMVR. Of eyes with new or previous CMVR, 1 eye developed rhegmatogenous retinal detachment (RD) postoperatively. Only 3 eyes had prolonged postoperative inflammation. There were no cases of endophthalmitis or cystoid macular edema. Postoperative improvement of at least two Snellen lines was achieved in 86.6% of eyes. CONCLUSIONS: Cataract surgery in HIV patients is generally safe, regardless of CD4 count, but their general and ocular health should be optimized preoperatively.

Mammographically dense human breast tissue stimulates MCF10DCIS.com progression to invasive lesions and metastasis.

BACKGROUND: High mammographic density (HMD) not only confers a significantly increased risk of breast cancer (BC) but also is associated with BCs of more advanced stages. However, it is unclear whether BC progression and metastasis are stimulated by HMD. We investigated whether patient-derived HMD breast tissue could stimulate the progression of MCF10DCIS.com cells compared with patient-matched low mammographic density (LMD) tissue. METHODS: Sterile breast specimens were obtained immediately after prophylactic mastectomy from high-risk women (n = 10). HMD and LMD regions of each specimen were resected under radiological guidance. Human MCF10DCIS.com cells, a model of ductal carcinoma in situ (DCIS), were implanted into silicone biochambers in the groins of severe combined immunodeficiency mice, either alone or with matched LMD or HMD tissue (1:1), and maintained for 6 weeks. We assessed biochamber weight as a measure of primary tumour growth, histological grade of the biochamber material, circulating tumour cells and metastatic burden by luciferase and histology. All statistical tests were two-sided. RESULTS: HMD breast tissue led to increased primary tumour take, increased biochamber weight and increased proportions of high-grade DCIS and grade 3 invasive BCs compared with LMD. This correlated with an increased metastatic burden in the mice co-implanted with HMD tissue. CONCLUSIONS: Our study is the first to explore the direct effect of HMD and LMD human breast tissue on the progression and dissemination of BC cells in vivo. The results suggest that HMD status should be a consideration in decision-making for management of patients with DCIS lesions.

Human glandular organoid formation in murine engineering chambers after collagenase digestion and flow cytometry isolation of normal human breast tissue single cells.

Women with high mammographic density (MD) are at increased risk of breast cancer (BC) after adjustment for age and body mass index. We have developed a murine biochamber model in which both high MD (HMD) and low MD (LMD) tissue can be propagated. Here, we tested whether cells isolated by collagenase digestion and fluorescence-activated cell sorting (FACS) from normal breast can be reconstituted in our biochamber model, which would allow cell-specific manipulations to be tested. Fresh breast tissue was collected from women (n = 7) undergoing prophylactic mastectomy. The tissue underwent collagenase digestion overnight and, in some cases, additional FACS enrichment to obtain mature epithelial, luminal progenitor, mammary stem, and stromal cells. Cells were then transferred bilaterally into biochambers in SCID mice (n = 5-7) and incubated for 6 weeks, before harvesting for histological analyses, and immunohistochemical staining for cytokeratins (CK), vimentin, Ki-67, murine macrophages, and Cleaved Caspase-3. Biochambers inoculated with single cells after collagenase digestion or with flow cytometry contained glandular structures of human origin (human vimentin-positive), which expressed CK-14 and pan-CK, and were proliferating (Ki-67-positive). Glandular structures from the digested tissues were smaller than those in chambers seeded with finely chopped intact mammary tissue. Mouse macrophage infiltration was higher in the chambers arising from digested tissues. Pooled single cells and FACS fractionated cells were viable in the murine biochambers and formed proliferating glandular organoids of human origin. This is among the first report to demonstrate the success of formed human glandular organoids from isolated primary mammary cells in the murine biochamber model.

Outcomes for minimally invasive parathyroidectomy: widening inclusion criteria based on preoperative imaging results.

BACKGROUND: Primary hyperparathyroidism is caused by a single adenoma in at least 80% of cases. Minimally invasive parathyroidectomy (MIP) has overtaken bilateral neck exploration as the gold standard for treatment in cases with adequate preoperative localization. There is evidence that, following careful review of preoperative imaging by the surgeon, increasing numbers of patients can successfully undergo MIP. METHODS: We conducted a retrospective review of 225 consecutive cases performed by a single surgeon. Outcomes for patients with disease reported as localized by radiologists and nuclear medicine physicians using sestamibi and ultrasound were compared with patients with negative or indeterminate localization studies, in which the surgeon reviewed the sestamibi, performed an ultrasound study and identified likely single adenomas and planned MIP. RESULTS: One hundred and sixty patients with radiologist-localized disease and an additional 29 patients with surgeon-localized disease underwent MIP. The surgeon-localized group had higher rates of conversion to bilateral neck exploration (21% compared with 4%, P = 0.004), but rates of failure to cure were comparable between the two groups (4.3% compared with 2.8%). CONCLUSION: Careful review of preoperative sestamibi and ultrasound studies by an experienced surgeon can increase the number of patients that can successfully undergo MIP for the treatment of primary hyperparathyroidism. Offering MIP to these patients does not result in increased rates of failure or recurrence.

High mammographic density is associated with an increase in stromal collagen and immune cells within the mammary epithelium.

INTRODUCTION: Mammographic density (MD), after adjustment for a women's age and body mass index, is a strong and independent risk factor for breast cancer (BC). Although the BC risk attributable to increased MD is significant in healthy women, the biological basis of high mammographic density (HMD) causation and how it raises BC risk remain elusive. We assessed the histological and immunohistochemical differences between matched HMD and low mammographic density (LMD) breast tissues from healthy women to define which cell features may mediate the increased MD and MD-associated BC risk. METHODS: Tissues were obtained between 2008 and 2013 from 41 women undergoing prophylactic mastectomy because of their high BC risk profile. Tissue slices resected from the mastectomy specimens were X-rayed, then HMD and LMD regions were dissected based on radiological appearance. The histological composition, aromatase immunoreactivity, hormone receptor status and proliferation status were assessed, as were collagen amount and orientation, epithelial subsets and immune cell status. RESULTS: HMD tissue had a significantly greater proportion of stroma, collagen and epithelium, as well as less fat, than LMD tissue did. Second harmonic generation imaging demonstrated more organised stromal collagen in HMD tissues than in LMD tissues. There was significantly more aromatase immunoreactivity in both the stromal and glandular regions of HMD tissues than in those regions of LMD tissues, although no significant differences in levels of oestrogen receptor, progesterone receptor or Ki-67 expression were detected. The number of macrophages within the epithelium or stroma did not change; however, HMD stroma exhibited less CD206(+) alternatively activated macrophages. Epithelial cell maturation was not altered in HMD samples, and no evidence of epithelial-mesenchymal transition was seen; however, there was a significant increase in vimentin(+)/CD45(+) immune cells within the epithelial layer in HMD tissues. CONCLUSIONS: We confirmed increased proportions of stroma and epithelium, increased aromatase activity and no changes in hormone receptor or Ki-67 marker status in HMD tissue. The HMD region showed increased collagen deposition and organisation as well as decreased alternatively activated macrophages in the stroma. The HMD epithelium may be a site for local inflammation, as we observed a significant increase in CD45(+)/vimentin(+) immune cells in this area.

Molecular profiling of human mammary gland links breast cancer risk to a p27(+) cell population with progenitor characteristics.

Early full-term pregnancy is one of the most effective natural protections against breast cancer. To investigate this effect, we have characterized the global gene expression and epigenetic profiles of multiple cell types from normal breast tissue of nulliparous and parous women and carriers of BRCA1 or BRCA2 mutations. We found significant differences in CD44(+) progenitor cells, where the levels of many stem cell-related genes and pathways, including the cell-cycle regulator p27, are lower in parous women without BRCA1/BRCA2 mutations. We also noted a significant reduction in the frequency of CD44(+)p27(+) cells in parous women and showed, using explant cultures, that parity-related signaling pathways play a role in regulating the number of p27(+) cells and their proliferation. Our results suggest that pathways controlling p27(+) mammary epithelial cells and the numbers of these cells relate to breast cancer risk and can be explored for cancer risk assessment and prevention.

Incidence of cryptorchidism and ascending testes in trisomy 21: a 10 year retrospective review.

Children with Down syndrome have an increased risk of cryptorchidism, but the reported incidence is unclear. In a proportion of these children, the testes are within the scrotum at birth but later appear to have ascended to an ectopic position. Records of patients diagnosed with trisomy 21 who had surgery for undescended testes in two tertiary paediatric centres over a 10-year period were examined. Information on liveborn males with Down syndrome was obtained from the Victorian Genetic Registry, and then the incidence of congenital and acquired undescended testes was determined. The incidence of undescended testes in Down syndrome was found to be 6.52% (24/368), with 4.35% (16/368) being acquired undescended or ascending testes. In conclusion, there is an increased incidence of cryptorchidism in Down syndrome; in particular, there is a significant proportion of acquired undescended testes.