Assessment of aortic dilatation in Chinese children and adolescents with Turner syndrome: a single center experience.

BACKGROUND: Patients with Turner syndrome (TS) face an increased risk of developing aortic dilatation (AD), but diagnosing AD in children presents greater complexity compared to adults. This study aimed to investigate the application of various assessment indicators of AD in Chinese children and adolescents with TS. METHODS: This study included TS patients admitted to Shenzhen Children's Hospital from 2017 to 2022. Cardiovascular lesions were diagnosed by experienced radiologists. Patients without structural heart disease were divided into different body surface area groups, then the Chinese TS population Z-score (CHTSZ-score) of the ascending aorta was calculated and compared with other indicators such as aortic size index (ASI), ratio of the ascending to descending aortic diameter (A/D ratio), and TSZ-score (Quezada's method). RESULTS: A total of 115 TS patients were included, with an average age of 10.0 ± 3.7 years. The incidences of the three most serious cardiovascular complications were 9.6% (AD), 10.4% (coarctation of the aorta, CoA), and 7.0% (bicuspid aortic valve, BAV), respectively. The proportion of developing AD in TS patients aged ≥ 10 years was higher than that in those < 10 years old (16.6% vs. 1.8%, P = 0.009), and the proportion of patients with CoA or BAV who additionally exhibited AD was higher than those without these conditions (31.6% vs. 5.2%, P < 0.001). The ASI, A/D ratio, TSZ-score, and CHTSZ-score of the 11 patients with AD were 2.27 ± 0.40 cm/m2, 1.90 ± 0.37, 1.28 ± 1.08, and 3.07 ± 2.20, respectively. Among the AD patients, only 3 cases had a TSZ-score ≥ 2, and 2 cases had a TSZ-score ≥ 1. However, based on the assessment using the CHTSZ-score, 6 patients scored ≥ 2, and 5 patients scored ≥ 1. In contrast, the TSZ-score generally underestimated the aortic Z-scores in Chinese children with TS compared to the CHTSZ-score. CONCLUSIONS: The applicability of ASI and A/D ratio to children with TS is questionable, and racial differences can affect the assessment of TSZ-score in the Chinese population. Therefore, establishing the CHTSZ-score specifically tailored for Chinese children and adolescents is of paramount importance.

Cardiovascular Disease and Inpatient Complications in Turner Syndrome: A Propensity Score Analysis.

BACKGROUND: Turner syndrome is a genetic disorder that occurs in female individuals and is characterized by the absence of 1 of the X chromosomes. This study examined the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome. METHODS: Data were extracted from the Nationwide Inpatient Sample 2016 database. Propensity score analysis was used to match women with Turner syndrome and women without Turner syndrome admitted to a hospital in the same year to evaluate the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome. RESULTS: After 1:1 matching, 710 women with Turner syndrome and 710 women without Turner syndrome were included in the final analysis. Compared with women without Turner syndrome, women with Turner syndrome were more likely to have a bicuspid aortic valve (9.4% vs 0.01%; P < .01), coarctation of the aorta (5.8% vs 0.3%; P < .01), atrial septal defect (6.1% vs 0.8%; P < .01), and patent ductus arteriosus (4.6% vs 0.6%; P < .01). Patients with Turner syndrome were more likely to have an aortic aneurysm (odds ratio [OR], 2.46 [95% CI, 1.02-5.98]; P = .046), ischemic heart disease (OR, 1.66 [95% CI, 1.10-2.5]; P = .02), heart failure (OR, 3.15 [95% CI, 1.99-4.99]; P < .01), and atrial fibrillation or flutter (OR, 2.48 [95% CI, 1.42-4.34]; P < .01). Patients with Turner syndrome were more likely to have pulmonary arterial hypertension (OR, 2.12 [95% CI, 1.08-4.14]; P = .03) and acute kidney injury (OR, 1.60 [95% CI, 1.06-2.42]; P = .03) and to require mechanical ventilation (OR, 1.66 [95% CI, 1.04-2.68]; P = .04). CONCLUSION: Turner syndrome is associated with an increased rate of cardiovascular disease and inpatient complications. These findings suggest that patients with Turner syndrome should be screened and monitored closely for cardiovascular disease and inpatient complications.

Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome: Has the Time Come?

Managing patients unable to produce sex steroids using gonadotropins to mimic minipuberty in hypogonadotropic hypogonadism, or sex steroids in patients with Klinefelter or Turner syndrome, is promising. There is a need to pursue research in this area, with large prospective cohorts and long-term data before these treatments can be routinely considered.

Transition from pediatrics to adult health care in girls with turner syndrome.

INTRODUCTION: Turner Syndrome is a rare condition secondary to a complete or partial loss of one X chromosome, leading to a wide spectrum of clinical manifestations. Short stature, gonadal dysgenesis, cardiovascular malformations, and dysmorphic features characterize its common clinical picture. AREAS COVERED: The main endocrine challenges in adolescent girls with Turner Syndrome are puberty induction (closely intertwined with growth) and fertility preservation. We discuss the most important clinical aspects that should be faced when planning an appropriate and seamless transition for girls with Turner Syndrome. EXPERT OPINION: Adolescence is a complex time for girls and boys: the passage to young adulthood is characterized by changes in the social, emotional, and educational environment. Adolescence is the ideal time to encourage the development of independent self-care behaviors and to make the growing girl aware of her health, thus promoting healthy lifestyle behaviors. During adulthood, diet and exercise are of utmost importance to manage some of the common complications that can emerge with aging. All clinicians involved in the multidisciplinary team must consider that transition is more than hormone replacement therapy: transition in a modern Healthcare Provider is a proactive process, shared between pediatric and adult endocrinologists.

A case report of a patient with Turner syndrome who develops catatonia secondary to psychotic symptoms.

RATIONALE: Turner syndrome (TS) is a genetic disorder associated with partial or complete monosomy X abnormalities; some patients may have a higher risk of psychiatric symptoms. Catatonia is associated with a wide range of life-threatening complications with complex pathogenesis; However, It very rare for patients with TS to develop psychotic symptoms and eventually progress to catatonia. This case report describes the diagnostic and therapeutic course of catatonia-associated TS. PATIENT CONCERNS: In this study, we report the case of a patient with TS who initially developed sudden hallucinations, delusions, and emotional instability, followed by catatonia. DIAGNOSES: The patient was diagnosed with: unspecified catatonia; TS. INTERVENTIONS: Treatment included administering a combination of esazolam injections and olanzapine tablets, placing a gastric tube and urinary catheter, and providing nutritional support. OUTCOMES: After treatment, the patient's hallucinations, delusions, and catatonia disappeared, with no residual sequelae, and social functioning returned to normal. LESSONS: For patients with TS who present with psychotic symptoms and catatonia, a comprehensive evaluation is necessary, and treatment with antipsychotics and benzodiazepines is effective.

[Unexpected spontaneous pregnancy in women with Turner syndrome]. / Onverwachte spontane zwangerschap bij vrouwen met het syndroom van Turner.

Most women with Turner syndrome have premature ovarian insufficiency from childhood. The chance of a spontaneous pregnancy is higher in women with a Turner mosaicism and in women who have had a spontaneous menarche. This chance is estimated at 5-8%. We discuss 2 women with Turner mosaicism who were misinformed about their chances of a spontaneous pregnancy. In both cases, puberty induction was started because of suspected gonadal dysgenesis but in retrospect only puberty was delayed, while ovarian function was still good at that time. The cases presented show that in long-term follow-up there is a pitfall in adopting incorrect assumptions. Critical re-evaluation of medical data during childhood and adolescence is therefore essential. The impact of infertility is great in women with Turner syndrome. Because pregnancy has an increased risk of complications, an unplanned pregnancy should be prevented.

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.

Purpose: Analyze the relationship between changes in the proportion of X-chromosome deletions and clinical manifestations in children with Turner syndrome (TS). Methods: X-chromosome number abnormalities in 8,635 children with growth retardation were identified using fluorescence in situ hybridization (FISH). Meanwhile, the relationship between the proportion of X-chromosome deletions and the clinical manifestations of TS, such as face and body phenotype, cardiovascular, renal, and other comorbidities in children with TS was analyzed. Results: A total of 389 children had X-chromosome number abnormalities, with an average age at diagnosis of 9.2 years. There was a significant increase in diagnoses around the ages of 3 and 7 years and highest number of diagnoses at 10 years of age. 130 with XO (complete loss of an X-chromosome), 205 with XO/XX, 8 with XO/XXX, 23 with XO/XX/XXX, 19 with XO/XY, and 4 with XO/XY/XYY. Body and facial phenotypes increased with higher mosaicism proportions, with a relatively high correlation shown with Pearson correlation analysis (r = 0.26, p = 1.7e-06). The incidence of congenital heart malformations was 25.56%, mainly involving a bicuspid aortic valve, and were more common in patients who had complete loss of an X-chromosome. However, this relationship was not present for renal disease (p = 0.26), central nervous system, thyroid, or liver disease. Conclusion: The mosaicism (XO/XX) is the most common karyotype of TS in screened cases. The phenotypes in children with TS may increase with the proportion of X-chromosome deletions, but the renal disease and comorbidities did not show the same characteristics.

[Hyperparathyroidism of different genesis in young patients with Turner syndrome: case series and brief review].

Hyperparathyroidism is a syndrome characterized by an excessive secretion of parathyroid hormone. Etiologically, hyperparathyroidism is subdivided into primary hyperparathyroidism, which develops as a result of parathyroid adenoma, carcinoma or hyperplasia, and secondary hyperparathyroidism, which happens as a compensatory response to a hypocalcemia caused by condition outside the parathyroid glands. Turner syndrome may also be accompanied by mineral metabolism disorders of various etiology. An association of hyperparathyroidism and Turner syndrome is interesting because of multifactorial impact on bone mineral density, but only few cases of such coexistence have been previously described in the literature. This article describes two patients with Turner syndrome and hyperparathyroidism of different etiology. Hyperparathyroidism, normocalcemia, vitamin D deficiency, osteoporosis, parathyroid tumors were found in both cases. In one case a number of assays was performed to confirm the patient's normocalcemic primary hyperparathyroidism, and surgery was performed to achieve remission. In the second case, treatment of vitamin D deficiency resulted in normalization of serum concentration of parathormone, after which the patient was prescribed antiresorptive therapy. The pathogenetic association between Turner syndrome and hyperparathyroidism requires further investigation. Comprehensive approach to the diagnosis and treatment of mineral metabolism disorders are essential for patients with coexistence of these two diseases.

Prevalence of hepatic steatosis and fibrosis in Turner syndrome: A prospective case-control study.

BACKGROUND AND AIMS: Abnormal liver chemistries are common in Turner syndrome (TS). Guidelines suggest that TS patients undergo annual screening of liver enzymes, but the role of non-invasive screening for steatosis and fibrosis is not clearly defined. We compared the prevalence of hepatic steatosis and fibrosis among TS patients to healthy controls using ultrasound with shear-wave elastography (SWE) and assessed for risk factors associated with steatosis and fibrosis in TS. METHODS: Prospective case-control study of TS versus control patients from 2019 to 2021. All patients underwent abdominal ultrasound with doppler and SWE to assess hepatic fibrosis and steatosis. Risk factors were compared between TS and controls, as well as within the TS group. RESULTS: A total of 55 TS and 50 control patients were included. Mean age was 23.6 years vs. 24.6 years in the control group (p = .75). TS patients had significantly more steatosis (65% vs. 12%, stage 1 vs. 0, p < .0001) and fibrosis (39% vs. 2%, average Metavir F2 vs. F0, p < .00001) than controls. These findings remained significant after adjusting for body mass index (BMI) (p < .01). GGT is more sensitive than AST or ALT in identifying these changes. CONCLUSION: TS is associated with an increased prevalence of hepatic steatosis and fibrosis compared to healthy controls. Our findings suggest that serum GGT and ultrasound with SWE may help identify TS patients with liver disease. Early risk factor mitigation including timely oestrogen replacement, weight control, normalization of lipids and promoting multidisciplinary collaboration should be encouraged.

[Manifestations of Turner syndrome: don't miss the diagnosis]. / Uitingsvormen van Turner-syndroom.

Turner syndrome (TS) is one of the most common sex chromosomal abnormalities affecting girls and women. Diagnosis of this condition can be delayed due to a variation in clinical presentation, although an early age at diagnosis is important for several reasons. It enables psychosocial support for girls and their parents; early initiation of growth hormone therapy; puberty induction at an appropriate age; early recognition of comorbidities, such as cardiac or renal abnormalities; and timely removal of the gonads in girls with Y-chromosomal material, who are at risk for gonadoblastoma. By increasing the knowledge of health care professionals and implementing screening programs for girls with short stature, delayed puberty and/or congenital heart disease such as coarctation of the aorta, more girls might be diagnosed at an early age. This allows for lifelong follow up, which is indicated to prevent morbidity and mortality in the long term.

[Replicative and biochemical ageing mechanisms among females with Turner syndromes].

BACKGROUND: 2025 is going to be the 100th anniversary of the first historical description of Turner syndrome - complex of  genomic abnormalities, congenital gonadal disruption and hypergonadotropic hypogonadism. Total estrogenic deficiency triggers development of age-related comorbidities. There is no doubt that personalized search for replicative markers of cellular aging among females with Turner syndrome is needed. AIM: To evaluate features of replicative (telomere length) and biochemical (lipid profile, calcium-phosphate album, thyroid hormones, markers cytolysis and cholestasis, carbohydrate metabolism, nitrogenic metabolism, electrolytes, FSH) markers among females with Turner syndrome. MATERIALS AND METHODS: Research has been provided in collaboration between Endocrinology Research Centre of the Russian Ministry of Health and Lomonosov Moscow State University Medical Research and Educational Centre in the period since 10.01.2021 until 01.08.2022. Females with non-iatrogenic hypergonadotropic hypogonadism caused by Turner syndrome (45,X0; 45,X/46,XX; 45,X/46,X,r(X); 13-40 y.o.; n=26) and primary ovarian insufficiency (18-39 нyears=26); healthy females of reproductive age (15-49 y.o.; n=24). Patients have undergone laboratory genetic (leucocyte telomere length), biochemical (fasting glycaemia, urea, creatinine, common/conjugated bilirubin, ALT, AST, gamma-glutamyl transferase, triglycerides, HDL-P, LDL-P, common cholesterol, common/ionized calcium, phosphate, vitamin D, sodium/potassium/chlorides, FSH, HbA1c) analyses. Body measurements - body mass, body height. DNA extraction - provided with Qiagen DNA blood mini kit (Germany). Leukocyte telomere length - with real-time polymerase chain reaction PCR (Flow-fish). Soft program IBM SPSS Statistics (version 26,0 for Windows). RESULTS: 1. Females with Turner syndrome have significantly lower mean telomere length (8,22 kB [6,63-9,30]) than with primary ovarian insufficiency (10, 34 кБ [8,41-13,08], p<0,001) and healthy reproductive age females (10,77 kB [9,95-13,16], р>0,05).2. Telomere length correlates directly and significantly with longevity of menopausal hormonal therapy among females with primary ovarian insufficiency (ρ = 505; p<0,001).3. Patients with Turner syndrome are inclined to vitamin D deficiency (р<0,001), dyslipidemia (р=0,01); increase of levels of aminotransferases, cholestasis markers, phosphate and FSH (р<0,001). CONCLUSION: Turner syndrome is serious genetic disease that leads not only to infertility but to significant decrease of quality/life longevity out of "healthy aging" conception.

Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate.

OBJECTIVE: The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases >5 mm/year. To investigate the aortic growth rate in TS and TS-related conditions associated with aortic growth. We also reported our experience of women who suffered aortic dissection (AoD), and who had preventive aortic replacement. METHODS: 151 adult TS were retrospectively identified. Women who had more than one transthoracic echocardiogram (TTE) after age 16 years were included in the aortic growth study. Aortic diameters at sinuses of Valsalva (SoV) and ascending aorta (AA) were analysed by two experts. RESULTS: 70/151 women had more than one TTE (interscan interval 4.7 years). Mean aortic growth was 0.13 ± 0.59 mm/year at SoV and 0.23 ± 0.82 mm/year at AA. Known risk factors for aortic dilatation and TS-related conditions were not associated with aortic growth. 4/151 women experienced AoD (age 25±8 years): two had paired scans for aortic growth, which was 0.67 mm/year at both SoV and AA in the first woman, and 11 mm/year (SoV) and 4 mm/year (AA) in the second. Only 1/4 of women with AoD survived; she used a TS cardiac-alert card to inform emergency personnel about her risk of AoD. 5/151 had a preventive aortic replacement, but one died post-operatively. CONCLUSIONS: Mean aortic growth in our TS population was increased compared to non-TS women and was not associated with currently known risk factors for AoD, suggesting that aortic growth rate itself could be a useful variable to stratify who is at risk for AoD.

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.

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.

Abnormal Body Composition Increases the Cardiometabolic Risk in Adolescents and Young Adults With Turner Syndrome.

OBJECTIVE: To determine the cardiometabolic risk of adolescents and adults with Turner syndrome (TS) and whether and how anthropometry and body composition predict this risk. METHODS: We compared the anthropometric, biochemical, and dual-energy x-ray absorptiometry-derived body composition parameters of 103 girls and women with TS aged 12 to 30 years and 103 controls of the same age and body mass index: (1) between TS with and without metabolic syndrome (MetS), (2) between the different karyotypes of TS, and (3) between growth hormone recipients and nonrecipients. RESULTS: Individuals with TS had higher prevalence rates of truncal obesity (57.2%), MetS (37.9%), prediabetes (20.4%), dyslipidemia (73.8%), hypertension (9.7%), and hepatic steatosis (15.5%) and a greater total body fat percentage (38.43% vs 34.26%) and fat mass index (9.15 vs 6.71 kg/m2) but a lower lean mass index (11.05 vs 12.49 kg/m2) than controls (P <.001). Individuals with TS and MetS (n = 39) had a higher total body fat percentage (41.74% vs 36.42%, P <.0001), truncal fat percentage (44.66% vs 36.09%, P <.0001), and visceral adipose tissue mass (495.57 vs 276 g, P <.0001) than those with TS but without MetS. Those with classic TS (45,X) had a higher prevalence of prediabetes (32.6% vs 10.5%, P =.01). Growth hormone recipients had a lower prevalence of MetS and lesser truncal obesity. Altered body composition was significantly correlated with metabolic risk. The truncal fat percentage independently predicted MetS (odds ratio, 1.12; 95% confidence interval, 1.003-1.24; P =.04). Waist circumference and waist-hip ratio predicted metabolic risk with good sensitivity and specificity. CONCLUSION: Adverse cardiometabolic risk and altered body composition start early in life in TS. Postpubertal women with TS should be routinely assessed for truncal obesity, dysglycemia, dyslipidemia, and liver steatosis, irrespective of body mass index and karyotype.

Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation.

This study aimed to longitudinally evaluate aortic root dimensions and elasticity in pediatric Turner syndrome (TS) in relation to known cardiac implications such as coarctation of the aorta (CoA) and bicuspid aortic valves (BAV) in order to create an improved risk profile for the presumed underlying vessel pathology in childhood. We report on the longitudinal findings of our pediatric TS outpatient clinic over a period of up to 7.6 years. Forty-nine TS patients (median age at baseline 9.7 ± 5.9 years, range 0-19.8) were followed-up for on average 2.9 ± 1.1 examinations and a median time of 3.4 ± 1.6 years. Aortic root (AoR) diameters and corresponding Z-scores were determined echocardiographically, and elasticity parameters as well as annual progression rates were calculated. At baseline, 16.3% of patients showed Z-scores > 2 at one or more levels of the AoR (35.7% of patients with BAV, odds ratio of 4.2). There was net progression to be noted at all measuring levels, leading to 28.6% of patients (50% of patients with BAV) exhibiting aortic dilatation at the end of follow-up. Progression correlated with the presence of BAV, non-mosaic monosomy, and age. A levelling-off of progression was seen with the onset of adolescence. CONCLUSIONS: Marked progression of aortic diameters leading to the development of dilatation can be observed in TS patients during childhood and stresses the importance of close surveillance during childhood. Main risk factors are BAV and complete monosomy 45X0. A beneficial influence of estrogen substitution can be suspected but needs further investigation. WHAT IS KNOWN: • Patients with Turner syndrome are at an increased risk for aortic dilatation and dissection. • The presence of BAV and complete monosomy 45X are additional risk factors. WHAT IS NEW: • Aortic dilatation can be detected in pediatric patients with Turner syndrome. • Relevant progression in childhood is possible in at-risk individuals and warrants close surveillance.

High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome.

OBJECTIVE: Girls with Turner syndrome (TS) often have features that have been associated with obstructive sleep-disordered breathing (oSDB). However, little is known about oSDB in TS. Herein, we aimed to characterize oSDB in young patients with TS and identify associated risk factors. STUDY DESIGN: Retrospective cross-sectional study. SETTING: Tertiary care pediatric hospital. METHODS: We reviewed medical records for patients diagnosed with TS seen at our institution between October 1, 2007 and December 31, 2019 with the first outpatient visit before age 6 years. The prevalence of oSDB was compared to the general pediatric population with 1-sample binomial proportion tests. Clinical characteristics were compared between those diagnosed with oSDB and those without oSDB, and risk factors for oSDB were identified. RESULTS: Of 151 patients with TS, 73 (48%) were diagnosed with oSDB which is 4-fold higher than the general pediatric population (12%, P < 0.0001). In the multivariable model, adenoid, tonsillar, and inferior turbinate hypertrophy, birthweight, failure to thrive, and older age at the last clinic visit were all associated with increased odds for oSDB. CONCLUSION: Young children with TS have a high prevalence of oSDB and thus should be screened for oSDB. Polysomnography should be performed in those with associated risk factors and symptoms oSDB. Treatment of oSDB is imperative as individuals with TS are already at increased risk of behavioral problems, neurocognitive deficits, and growth impairment that may be worsened with oSDB.

Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report.

Turner syndrome (TS) is a rare clinical condition associated with a completely or partially absence, or structural abnormality of an X chromosome, mainly representing as short stature and skeletal anomalies, female hypergonadotropic hypogonadism and infertility. Skin is frequently involved in TS, especially autoimmune diseases like vitiligo and lichen sclerosus (LS). Here, we present a 10-year-old Chinese girl with TS combined with both vulvar LS (VLS) and extragenital LS, who had been misdiagnosed as eczema and vitiligo for years. In order to control LS sufficiently and allay the parents' concerns of potential side effects of topical corticosteroids, she was prescribed with tacrolimus ointment on the extragenital lesions, and photodynamic therapy (PDT) for vulvar lesions. For PDT regimen, we used 5-aminolevulinic acid (ALA) as photosensitizer and 633 nm red light to irradiate the lesion area at 60 mW / cm2 for 30 min each time. After 6 times of treatment at 2-week intervals, a satisfactory remission of both pruritus and lesion severity was achieved. So far, the guideline on TS did not include LS as a common comorbidity to raise attention. However, accurate diagnosis and effective treatment are essential for LS to avoid the possibilities of developing labial atrophy, adhesion, or even vulvar cancer. Based on our research, PDT can significantly relieve subjective symptoms, objective lesion severity and histopathological changes of VLS with good tolerance, and therefore can also be a safe and effective therapeutic alternative in such comorbidity in TS patients.

Postoperative Morbidity and Interstage Hemodynamics Following Stage I Palliation in Patients with Turner Syndrome and Hypoplastic Left Heart Syndrome.

BACKGROUND: Turner syndrome (TS) is associated with left-sided cardiac lesions, including hypoplastic left heart syndrome (HLHS). Mortality as high as 80-90% has been reported following stage I single-ventricle palliation (S1P) in patients with TS and HLHS (TS + HLHS). The specific factors that relate to poor outcomes are not well understood. METHODS: This is a single-center, retrospective cohort study that includes 197 patients with HLHS who underwent S1P between 2008 and 2022. The clinical outcomes and interstage hemodynamics of TS + HLHS patients (N = 11) were compared with HLHS without TS (TS-HLHS), (N = 186). RESULTS: Of the 11 TS + HLHS patients, 10 underwent S1P; 4 underwent Glenn and 1 had hemodynamics considered prohibitive for Glenn; only 1 survived to Fontan palliation. Post-S1P mortality was higher in TS + HLHS (60 v 25%, p = 0.017). Following S1P, TS + HLHS had higher rates of postoperative ECMO (70 v 28%, p = 0.006), surgical necrotizing enterocolitis (20 v 3%, p = 0.007), peritoneal drain placement (70 v 31%, p = 0.012), urinary tract infection (30 v 9%, p = 0.035), and ICU readmissions (median 5 v 1, p = 0.035). Interstage hemodynamics demonstrated higher right ventricular end diastolic, (11 v 8mmHg, p = 0.033), mean pulmonary artery (20 v 13mmHg) (p = 0.002), and left atrial pressures (9 v 6mmHg, p = 0.047) in TS + HLHS. CONCLUSION: High mortality rates are described in TS + HLHS patients following S1P. In our cohort, despite most surviving more than 30 days post-S1P, long-term survival remained poor. Interstage catheterization data suggest poor physiologic candidacy for subsequent stages of single-ventricle palliation. Understanding the clinical and hemodynamic factors related to poor outcomes in TS + HLHS will help inform management for this population.