Webbed Neck Deformity Reconstruction in Patients with Turner Syndrome: Technical Considerations in Treating Congenital Pterygium Colli.

Importance: Present an excellent outcome for a rare pterygium colli reconstruction. Objective: Establish techniques that have yielded a successful aesthetic and functional outcome for a patient with pterygium colli in a procedure that lacks consensus. Design, Setting, and Participants: Surgical pearls-description of considerations for a successful reconstruction. An academic practice. Pediatric patient with Turner's syndrome who underwent neck and auricular reconstruction.

Surgical Techniques for the Repair of Webbed Neck: A Scoping Review.

Webbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the literature lacks a review of the techniques used in the repair of this condition. We performed a scoping review to define and summarize the surgical techniques been used in the treatment of webbed neck, with the goal of better equipping the surgeons' armamentarium. Two databases, PubMed and Scopus, were searched from inception through December 27, 2021. Studies were considered for inclusion if they (1) described the webbed neck condition and (2) reported results of surgical correction of this condition. Surgical outcomes and follow-up durations were reported as available. Twenty-two manuscripts were analyzed and included data on 60 patients. The most common syndrome associated with webbed neck was Turner syndrome (48 patients). The most frequently documented procedure technique was a Z-Plasty (38 patients). Other procedures described included: butterfly correction, V-Y Plasty, posterior cervical lift, skin excision, tissue expansion plus skin excision, T to M rearrangement, and subcutaneous fascial excision. Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the surgical techniques used in the repair of webbed neck. When selecting the technique for repair of the webbed neck, function and cosmesis are important considerations. Future studies should collect standardized outcomes data to appropriately assess and compare the described procedures.

Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome.

OBJECTIVE: To evaluate long-term survival in patients with Turner syndrome after congenital heart surgery with a focus on left heart obstructive lesions (LHOLs). STUDY DESIGN: We queried the Pediatric Cardiac Care Consortium, a US-based registry of congenital heart surgery, for patients with Turner syndrome undergoing congenital heart surgery at <21 years of age between 1982 and 2011. Outcomes were obtained from the Pediatric Cardiac Care Consortium and from national death and transplant registries through 2019. Survival of patients with Turner syndrome and nonsyndromic patients with similar LHOL was compared by Kaplan-Meier survival curves and Cox regression adjusted for age, congenital heart disease, and era. RESULTS: We identified 179 patients with Turner syndrome operated for LHOL: 161 with 2-ventricle lesions (coarctation n = 149, aortic stenosis n = 12) and 18 with hypoplastic left heart (HLH) variants. There were 157 with 2-ventricle LHOL and 6 with HLH survived to discharge. Among survivors to hospital discharge, the 30-year transplant-free survival was 90.4% for Turner syndrome with 2-ventricle lesions and 90.9% for nonsyndromic comparators (adjusted hazard ratio [aHR] 1.15, 95% CI 0.64-2.04). The postdischarge survival for HLH was 33% for Turner syndrome and 51% for nonsyndromic patients, with these numbers being too small for meaningful comparisons. There was a higher risk for cardiovascular disease events in patients with Turner syndrome vs male (aHR 3.72, 95% CI 1.64-8.39) and female comparators (aHR 4.55, 95% CI 1.87-11.06) excluding heart failure deaths. CONCLUSIONS: The 30-year transplant-free survival is similar for patients with Turner syndrome and nonsyndromic comparators with operated 2-ventricle LHOL without excess congenital heart disease risk. However, patients with Turner Syndrome still face increased cardiovascular disease morbidity, stressing the importance of lifelong comorbidity surveillance in this population.

Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome.

OBJECTIVE: To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC. METHODS: A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College Hospital from February 1984 to July 2020. RESULTS: Among the 244 patients with a disorder of sexual development, 69 cases of TS were identified in which 13 patients had sSMC. Their ages ranged from 3 to 28 years old with an average of 14.31 ± 6.40 years. All 13 sSMC-positive patients had typical clinical manifestations of TS except ambiguous genitalia in four cases. SRY gene testing was performed in 11sSMC-positive patients and 10 patients were positive for SRY and one was negative. Among the 10 SRY-positive patients, two cases had hirsutism and clitoral enlargement and two cases had clitoral enlargement only. Nine sSMC and SRY-positive patients underwent gonadectomy and one had left gonadal gonadoblastoma with seminoma in situ and right gonadal seminoma in situ. CONCLUSIONS: Although the sSMC positive detection rate in DSD patients is uncommon (5.33% in our sample), the positive SRY detection rate in sSMC-positive TS patients was extremely high in our TS patients. And TS patients with sSMC and SRY positive had a significantly increased risk of gonadal germ cell tumors. Routine SRY screening should be performed in TS patients with sSMC, and a gonadectomy should be performed in TS patients with sSMC and SRY positive to prevent the occurrence of tumors.

Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review.

Ovarian gonadoblastoma coexisting with a dysgerminoma is extremely rare in patients with Turner syndrome (TS) and a Y chromosome. The cytological findings, including imprint cytology, of these unusual ovarian tumors have rarely been reported. We report a rare patient with a gonadoblastoma with dysgerminoma, 3.0 × 2.0 cm in size; she was a 19-year-old woman with TS and a Y chromosome. She underwent laparoscopic bilateral gonadectomy, and the tumor was classified as stage IA (pT1aNxM0) according to the International Federation of Gynecology and Obstetrics classification system. Intraoperative imprint cytology revealed two types of neoplastic cells: small tumor cells surrounding light green-stained or eosinophilic hyaline globules with marked calcification, suspicious for gonadoblastoma; and large, round, atypical cells with abundant cytoplasm, macronucleoli, and marked lymphocytic infiltration (two-cell pattern), suspicious for dysgerminoma. The cytology results in our patient may represent the second reported results of imprint cytology describing a gonadoblastoma with dysgerminoma. They are the first reported results in a patient with TS and a Y chromosome.

Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material.

INTRODUCTION: Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients. OBJECTIVE: We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. METHODS: A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017. Patients were assessed preoperatively with ultrasonography; some additionally underwent MRI. RESULTS: The series consisted of 10 patients, all with female gender and non-palpable gonads. Median age was 13.1 years (range 2.4-18.3 years). Overall, four of the ten patients (40%) had a tumor (gonadoblastoma or dysgerminoma) on final pathology. Four patients had a gonad or gonads that were definitively seen on ultrasonography. All visualized gonads were described as "normal" or "small" with the exception of one patient, who had a normal MRI. Three of the four patients in this group had a tumor on final pathology. The remaining six patients had a gonad or gonads that were not definitively visualized on ultrasound; one patient in this group had a tumor on final pathology. Overall, five of seven gonads (71%) definitively visualized on ultrasound had tumor on final pathology, and two of thirteen gonads (15%) not visualized on ultrasound had tumor on final pathology; this difference was statistically significant (p = 0.012). Three patients were imaged with MRI. Of the gonads that could be visualized on MRI, no definitive abnormalities were seen. All patients imaged with MRI had tumors on final pathology. DISCUSSION: Both ultrasound and MRI are relatively poor at identifying and characterizing intra-abdominal gonads in GD patients. The majority of patients who had a neoplasm had normal imaging findings. Gonads that were definitively visualized on ultrasound were more likely to contain neoplasms that could not be visualized, which perhaps because of tumor growth. No other consistent imaging findings of malignancy were found. Our study included ultrasound evaluations that were completed over 10 years ago and not performed by pediatric ultrasonographers, which may have biased the results. However, results suggest that when discussing gonadectomy with GD patients, one should not be reassured by "normal" imaging findings. Neither ultrasound nor MRI should be relied on for surveillance in GD patients who decide against gonadectomy. CONCLUSION: A normal ultrasound or MRI does not rule out neoplasm in GD patients with intra-abdominal gonads.

Hypoplastic left heart in Turner's syndrome: a primary indication for transplant?

Survival for hypoplastic left heart syndrome patients following the Norwood procedure is 71-90%. Mortality in patients with Turner's syndrome and hypoplastic left heart syndrome after conventional palliation (Norwood operation) has been reported as high as 80%. This questions the approach of traditional staged palliation. Here, we report a patient with hypoplastic left heart syndrome and Turner's syndrome bridged to orthotopic heart transplantation following a hybrid procedure.

Improving Functional and Aesthetic Outcomes in Syndromic Patients With Webbed Neck Deformity: Utilizing a Staged Endoscopic-Assisted Approach to Improve the Posterior Hairline and Decrease Scar Burden.

INTRODUCTION: Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the extent of the deformity, and patients often also have low posterior hairlines requiring simultaneous correction. Current surgical techniques include various methods of single-stage radical excision that often result in visible scar burden and residual deformity. There is currently no general consensus of which technique provides the best outcomes. METHODS: A modified approach to WND was designed by the senior author aimed to decrease scar burden. Endoscopic-assisted fasciectomy was performed with simultaneous posterior hairline reconstruction with local tissue rearrangement camouflaged within the hair-bearing scalp. Staged surgical correction was planned rather than correction in a single operation. A retrospective review was performed to evaluate all patients who underwent this approach over a 2-year period. RESULTS: Two patients underwent the modified approach, a 17-year-old female with Noonan syndrome and a 2-year-old female with Turner syndrome. Both patients showed postoperative improvement in range of motion, contour of the jaw and neckline, and posterior hairline definition. Patients were found to have decreased scar burden compared with traditional techniques. DISCUSSION: A staged, combination approach of endoscopic-assisted fasciectomy and strategic local tissue reconstruction of the posterior hairline to correct WND achieves good functional and aesthetic results and good patient satisfaction. This modification should be considered when managing WND.

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB.

Correction of Pterygium Colli in Turner Syndrome: A Clinical Report and Review of the Surgical Management.

The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence. The purpose of this study is to review the available methods to correct the deformity and highlight a recent patient performed by the senior author. A modified bilateral Z-plasty technique was used for correcting PC on a 5-year-old African American girl diagnosed with Turner syndrome. The patient had an uneventful postoperative period and satisfactory functional and esthetic results were demonstrated at 1 year follow-up. The approach used was a variation of a lateral approach. Using the proposed approach, excision and complete release of the scar contracture and less tension, which reduces the rate of recurrence compared with the posterior approaches, is achieved. Moreover, the current technique avoids myotomies, which can put the spinal accessory nerve at risk, and lateral Z-plasties which the authors find unnecessary. Instead, the advancement of each anterior flap is limited in the posterosuperior direction so that the flaps do not meet in the posterior midline. This limits the pull and tension on the entire closure. Although several techniques have been described over the years, the search for the ideal type of surgical treatment is still ongoing.

Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management.

OBJECTIVE: To investigate the risk of gonadal germ cell neoplasms (GCN) in children with 45,X/46,XY gonadal dysgenesis and its relation to the clinical presentations. METHODS: We conducted a retrospective study reviewing the clinical and gonadal features of all consecutive children with 45,X/46,XY gonadal dysgenesis who received gonadal management in a tertiary center from 1985 to 2015. Study subjects were divided into Group I(significant genitalia anomaly), Group II(female phenotype) and Group III(male phenotype). RESULTS: 21 children were studied (Group I=8; Group II=11; Group III=2). All 19 children of Group I and II eventually underwent bilateral gonadectomy. One patient of Group III underwent gonadal biopsy which showed increase in fibrous tissue in the testes without any GCN. 3/8(37.5%) and 6/11(54.5%) of patients in Group I and II respectively had either gonadoblastoma (GB) or carcinoma-in-situ (CIS) or both affecting one or both gonads. Among Group I patients, the 4 dysgenetic testes affected by CIS in 3 patients were intraabdominal (n=1), inguinal (n=1) and scrotal (n=2) in positions. Among Group II patients, 6/20 streak gonads had GB and 2/2 dysgenetic testes had GB or CIS. CONCLUSIONS: 45,X/46,XY children with significant genitalia anomaly or female phenotype are both at high risk of gonadal GCN.

Functionally Univentricular Heart With Right Atrial Isomerism and Mixed Total Anomalous Pulmonary Venous Drainage.

Patients with right atrial isomerism and total anomalous pulmonary venous connection (TAPVC) in a functionally univentricular heart are a challenging subset with a high mortality rate. We present the case of a patient with univentricular heart who had right atrial isomerism and associated mixed TAPVC (supracardiac, cardiac, and infracardiac). The anatomy was delineated precisely, and the patient underwent first-stage univentricular palliation consisting of TAPVC repair and bilateral bidirectional superior cavopulmonary anastomosis.

Surgical Correction of a Webbed-Neck Deformity in Turner'S Syndrome.

Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital anomalies. A typical form of this syndrome is associated with a lack of one of the sex chromosomes (karyotype 45, X). From the point of view of plastic surgery, one of the most important elements of the therapy is correction of the webbed neck deformity. The aim of the study was to present the possibilities of surgical treatment of a webbed neck of patients with Turner's syndrome and the evaluation of treatment results. In the years 2000-2012, six children with Turner's syndrome were treated because of the webbed neck deformity. The age of patients ranged from 9 to 17 years. In the case of all patients, the aim was to distribute the neck skin folds by using Z-plasty in conjunction with a shift to the back of glabrous skin flaps mobilised from the anterolateral surface of the neck. In the case of four operated patients, the folds were completely removed and a correct symmetrical outline of the neck was obtained. One patient was found to have unilateral moderate webbed neck recurrence after about 2 years of treatment. In one case, the correction was insufficient. The performed surgical procedures enabled correction of low hairline only in the lateral parts of the neck. The lower line of the scalp in the central part of the neck has remained unchanged. The lateral approach with a shift of glabrous skin flap to the back, which we performed, allows for effective reduction of the webbed neck, excision of bands of the connective tissue and correction of the low hairline on the side of the neck. Z-plasty enables an adequate extension of scars and improves the contour of the neck.

Risk of Malignancy and Need for Surgery in Pediatric Patients with Morris or Y-chromosome Turner Syndrome: A Multicenter Survey.

STUDY OBJECTIVE: The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey. DESIGN: We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details. RESULTS: No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series. CONCLUSION: If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery.

Pediatric glioblastoma multiforme in association with Turner's syndrome: a case report.

The Ullrich-Turner syndrome (complete or partial X-chromosome monosomy) has been found to be associated with an increased rate of some extragonadal neoplasms. Sporadic reports of the Turner syndrome with various brain tumors, including few cases of glioblastoma multiforme, have been found in the literature. However, published data are insufficient to establish a definite relationship between these tumors and the Turner syndrome. Herein, a rare case of primary pediatric glioblastoma multiforme in a 7-year-old girl with Turner's syndrome is reported, and various aspects regarding clinical and pathophysiological issues have been discussed. Although Turner's syndrome is not one of the congenital chromosomal abnormalities which demand routine CNS screening, neurological assessment may be of value in those with relevant clinical findings.

Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment.

BACKGROUND/PURPOSE: Gonadectomy is recommended in Turner syndrome (TS) patients with Y-chromosome material due to high risk of tumor in the dysgenetic gonads. No recommendations exist on whether concurrent salpingectomy should be performed. METHODS: A retrospective chart review of surgical procedure and histopathology in TS patients with Y-chromosome enrolled in a TS database was undertaken at Cincinnati Children's Hospital Medical Center. An electronic survey was sent to members of the International Pediatric Endosurgery Group to assess prevalent practice patterns and attitudes on gonadectomy and concurrent salpingectomy in this population. RESULTS: In March 2011, 12/158 (8%) TS girls (mean age 6.6 years) enrolled in the database had TS with Y-chromosome. Gonadoblastoma was identified in 4/12 (33%) patients and 2/4 had malignant transformation to dysgerminoma and teratoma. Approach to gonadectomy was varied and 3/12 had concurrent salpingectomy. Fifty-four laparoscopic surgeons responded to the survey with no clear consensus on whether salpingectomy should be concurrently performed. CONCLUSIONS: TS patients with Y-chromosome have an increased risk of gonadal tumor development and gonadectomy is recommended. While there is no consensus among pediatric laparoscopic surgeons on concurrent salpingectomy, it is reasonable to consider this combination procedure.

Severe tracheobronchial compression in a patient with Turner's syndrome undergoing repair of a complex aorto-subclavian aneurysm: anesthesia perspectives.

We present a case of severe tracheobronchial compression from a complex aorto-subclavian aneurysm in a patient with Turner's syndrome undergoing open surgical repair. Significant airway compression is a challenging situation and requires careful preoperative preparation, maintenance of spontaneous breathing when possible, and consideration of having an alternative source of oxygenation and circulation established prior to induction of general anesthesia. Cardiopulmonary monitoring is essential for safe general anesthesia and diagnosis of unexpected intraoperative events.