X Syndrome Research Articles

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

BackgroundPatients 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.MethodsThis 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).ResultsA 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.ConclusionsThe 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.

Mortality in young women with turner syndrome is mainly due to aortic dissection - a 25-year follow-up in sweden

Mortality in young women with turner syndrome is mainly due to aortic dissection - a 25-year follow-up in sweden

The liminal (vowel) space of womanhood: Fundamental frequency, formants, and the intersex body in Brazil

Abstract Despite the significance of intersex constituencies for explaining the social nature of sex and gender, intersex linguistic and social practices remain a yet unexplored frontier within sociolinguistics. This article examines fundamental frequency (F0) and vowel formant (F1–F3) production by participants with Turner Syndrome (TS), one of the most common intersex chromosomal conditions, in Rio de Janeiro, Brazil. This analysis demonstrates significant differences in fundamental frequency and F3 among different participant groups. I argue that height, growth hormone, and chromosomes are fundamental in constructing womanhood for TS women. Along with relevant ethnographic data, these results call for a re-examination of the body within linguistic and anthropological understandings of ‘womanhood’ and ‘femaleness’. This article highlights the ways these biological factors intersect with gendered perceptions of age and maturity, which can have real-world effects on linguistic practice and the social life of intersex individuals. (Brazilian Portuguese, fundamental frequency, gender, intersex, Turner Syndrome, vowel formants, critical intersex studies)*

Carotid Intima-Media Thickness and Cardiometabolic Profile in Turner Syndrome: A Cross-Sectional Study.

Turner syndrome (TS), one of the most common chromosomal abnormalities in females, often results in adult cardiovascular and metabolic complications. Information on pediatric age is scarce. This study aimed to compare the presence of cardiometabolic risk factors in children with TS and healthy controls. This is a cross-sectional study comparing patients with TS to age-matched healthy controls, regarding cardiometabolic risk factors includinglipid profile, fasting glucose, insulin resistance, body composition, body mass index, blood pressure, and carotid intima-media thickness (cIMT). We included nine TS patients and ninecontrols with a median age of 13 years (9-14 years). Three TS patients and three controls were prepubertal. All TS patients received growth hormone treatment (GHT), median treatment of six years (3-10 years); four patients underwent treatment with estradiol. No statistically significant differences were detected between TS patients and controls regarding body mass index (BMI), cholesterol levels, and insulin resistance. cIMT indexed to body surface area showed no significant differences between TS patients and controls (0.37 vs 0.35 mm/m2, respectively, p=0.605). TS patients had lower body fat levels (7.2% vs 34.9%, p=0.004). On the other hand, TS patients had higher levels of systolic (z-score 1.04 vs -0.08, p=0.001) and diastolic (z-score 1.08 vs 0.33, p=0.031) blood pressure (BP) and aspartate (AST) and alanine (ALT) aminotransferase levels (26 vs 20 U/L, p=0.008 and 19 vs 14 U/L, p=0.004, respectively). Patients with TS, all submitted to GHT, had lower body fat levels compared with controls, despite similar BMI. Although we found no differences in cIMT between the two groups, young girls with TS had higher BP and transaminase levels. Early anthropometric, cardiovascular, and analytical monitoring of patients with TS is essential to detect abnormalities and prevent further complications.

Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance: A case report

Rationale: If one of the partners is having balanced autosomal translocation, it is usually observed that the offspring inherit either normal chromosomes, balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having translocation. Concern: A unique case presented with history of 8 miscarriages for genetic counseling. The last abortus material evaluation showed monosomy of chromosome X (Turner syndrome) in all the analyzed cells. There was a history of infertility and also repeated second trimester abortions on the paternal side. On the maternal side, there was a history of intellectual disability. Diagnose: History of repeated abnormal pregnancy outcomes. Wife’s karyotype is normal; however, husband shows translocation between chromosome 4 and 22. Intervention: Peripheral blood sample around 3 mL was collected for karyotype. Embryo biopsy was done and DNA was extracted and processed for whole exome sequencing. Outcomes: Wife’s karyotype is normal and husband has translocation between chromosome 4 and 22. Surprisingly, the entire pregnancy outcome including embryo screening has different, complete or partial aneuploidies of chromosomes other than chromosome 4 and 22. Main lesson: Though the translocation in one of the parent is balanced, we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell division. Option of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series.

To describe and conclude the in vitro fertilization (IVF) results of patients with X chromosome abnormality. A retrospective case series was conducted. According to the number of normal X, patients were allocated into two groups: Group A (patients with only a normal X, while other X has any types of abnormalities) and Group B (patients have two or more normal X chromosomes). Clinical data, including basic information, fertility information, and IVF outcomes, were collected. Fourteen patients with X chromosome abnormality were included, among which 13 patients underwent a total of 29 cycles. Patients in Group B had five successful pregnancies and three live births, while no patient in Group A had a clinical pregnancy. Furthermore, the blastocyst formation rate and incidence of pregnancy were significantly lower in Group A (Z = -3.135, p = .002; Z = -2.946, p = .003, respectively). When controlled covariates, the karyotype of one normal X was also a risk factor for both blastocyst formation rate and success pregnancy (β = .820, 95% confidence interval [CI] = 0.458-1.116, β = .333, 95% CI = 0.017-0.494, respectively). Our results revealed that women with only one normal X might suffer from worse IVF outcomes, mainly blastocyst formation rate, compared with those who had two or more normal X, including mosaic Turner syndrome and 47,XXX.

Clinical and genetic characteristics of disorders of sex development in Sudanese patients

Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males. There was a high percentage of consanguineous parents (85%). Female genital mutilation (FGM) was performed in 75% of females. Patients who presented after pubertal age were 63%, with ambiguous genitalia in 61.7%, followed by primary amenorrhea (PA) in 30%. The SRY gene was positive in 3.3% of patients with 46,XX karyotype and negative in 6.7% of patients with 46,XY karyotype. 5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%. In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.

Potential for Optimization of Growth Hormone Treatment in Children with Growth Hormone Deficiency, Small for Gestational Age, and Turner Syndrome in Germany: Data from the PATRO® Children Study

Introduction: Growth hormone (GH) treatment in children with growth hormone deficiency (GHD), short children born small for gestational age (SGA), and Turner syndrome (TS) is well established. However, a variety of parameters are still under discussion to achieve optimal growth results and efficiency of GH use in real-world treatment. Methods: German GH-treatment naïve patients of the PATRO Children database were grouped according to their start of treatment into groups of 3 years from 2007 to 2018. Time trends in age, gender, GH dose, height standard deviation score (SDS), first-year growth response, and Index of Responsiveness (IoR) were investigated in children with GHD, short children born SGA, and TS starting GH treatment in the German patient population of the PATRO Children database from 2007 to 2018 to determine specific parameters for GH treatment optimization. Results: All patient groups started GH treatment at a relatively high chronological age (2007–2009: GHD 8.33 ± 3.19, SGA 7.32 ± 2.52, TS 8.65 ± 4.39) with a slight but not significant trend towards younger therapy start up to 2016–2018 (GHD 8.04 ± 3.36, SGA 6.67 ± 2.65, TS 7.85 ± 3.38). In the GHD and SGA groups, female patients were underrepresented compared to male patients (GHD 32.3%, SGA 43.6%) with no significant change over the 4 time periods. Patients with GHD started GH treatment at a low dose (0.026 mg/kg/day). In SGA and TS patients, GH therapy was started below the registered dose recommendation (30.0 μg/kg/day and 33.7 μg/kg/day, respectively). In the first year of treatment, the mean GH dose was increased moderately (GHD: 30.7, SGA: 35.7, TS: 40.8 μg/kg/day). There was no significant change of GH dosing over time from 2007 to 2018. The IoR was comparable between time-groups for all 3 diagnoses. Discussion: This study shows potential for improvement of GH treatment results in GHD, SGA, and TS patients in terms of early dose adjustment and younger age at the start of treatment. This is in accordance with important parameters used in prediction models.

74 Getting to the Heart of the Cause: Epidermodysplasia verruciformis in a Patient Born with Transposition of the Great Arteries and Mosaic Turner Syndrome

74 Getting to the Heart of the Cause: Epidermodysplasia verruciformis in a Patient Born with Transposition of the Great Arteries and Mosaic Turner Syndrome

Growth Hormone treatment in children with Growth Hormone deficiency, idiopathic short stature, SHOX gene mutation, small for gestational age and Turner syndrome

To describe the evolution of a group of children who received GH in a tertiary center between 2012-2022. Descriptive, retrospective study. We analyzed the impact on height after GH use with Z-score according to etiology, age at onset and bone age. Patients under 15 years old at baseline and receiving GH for at least 12 months, with diagnoses of GH deficiency (GHD), idiopathic short stature (ISS), small for gestational age (SGA), SHOX Haploinsufficiency (SHOX) and Turner syndrome (TS) were included. Height was expressed as Z-score for age and sex, according to NCHS curves. 145 children received GH. Sixty patients were excluded due to irregular administration, incomplete data, less than 12 months of GH, change of hospital, and associated comorbidities. Seventy-three patients were analyzed, 23 GHD, 15 ISS, 20 SGA, 9 SHOX and 6 TS patients. Significant improvement in height (Z-score for age and sex) was observed in SGA (1.4 ± 0.8 gain; p < 0.001), GHD (1.1 ± 1.0; p < 0.001), ISS (1.1 ± 0.8; p < 0.001) and SHOX (0.8 ± 0.7; p = 0.007) patients. In TS, a non-statistically significant improvement was observed (0.7 ± 0.8; p = 0.085). In GHD, onset before 3 years showed a gain of 1.9 ± 1.1, vs 0.7 ± 0.6 (p = 0.083) and in ISS onset with bone age less than 9 years increased it by 1.7 ± 0.5 vs 0.5 ± 0.5 (p < 0.001). 27/73 (37%) headache, 18/73 (24%) lower extremity pain, 1/73 (1.5%) dizziness, 1/73 (1.5%) scoliosis, 1/73 (1.5%) epiphysiolysis and 1/73 (1.5%) craniopharyngioma recurrence. Children with GHD, ISS, SHOX mutation and SGA significantly improved their height, highlighting in GHD and ISS the importance of early treatment. Treatment was well tolerated in the 5 groups analyzed.

Recurrent First-trimester Cystic Hygroma with Normal Chromosomes Identified in Two Cases with a Recessive Genetic Syndrome

Abstract First-trimester cystic hygroma (CH) was a frequent finding in a general obstetric screening program for fetal aneuploidy. Chromosomal abnormalities can be diagnosed in most cases with CH, especially common trisomies and Turner syndrome. For first-trimester CH with a normal array result, management choices are limited except for waiting for serial ultrasounds to detect structural anomalies. We report two cases with a recurrent diagnosis of fetal first-trimester CH in two subsequent pregnancies. In both cases, detailed anatomic surveys in the second trimester showed structural anomalies. After excluding chromosomal abnormalities, trio-exome sequencing (ES) revealed two pathogenic variants, P3H1:c.1032T &gt;A and c.1927_1930delinsGCTT in Case 1, and two pathogenic variants, KIAA1109:c.5788del and c. 3055C &gt;T in Case 2. These findings were associated with two recessive genetic syndromes, osteogenesis imperfecta type VIII and Alkuraya-Kucinskas syndrome, in the two cases, respectively. Our study showed that the recurrence of fetal CH with a normal karyotype strongly indicates the existence of an autosomal recessive type of genetic disorder. For such cases, health providers should be alerted to this possibility, and early application of ES should be considered before the presentation of fetal structural anomalies which are usually present in second-trimester anatomic scans.

Cardiac MRI evaluation of aortic biophysical properties in paediatric Turner syndrome.

Aortopathy in Turner syndrome is associated with aortic dilation, and the risk of dissection is increased when the aortic size index is ≥ 2-2.5 cm/m2. We evaluated the aortic biophysical properties in paediatric Turner syndrome using cardiac MRI to determine their relationship to aortic size index. Turner syndrome patients underwent cardiac MRI to evaluate ventricular function, aortic dimensions, and biophysical properties (aortic stiffness index, compliance, distensibility, pulse wave velocity, and aortic and left ventricular elastance). Spearman correlation examined correlations between these properties and aortic size index. Data was compared to 10 controls. Of 25 Turner syndrome patients, median age 14.7 years (interquartile range: 11.0-16.8), height z score -2.7 (interquartile range: -2.92 - -1.54), 24% had a bicuspid aortic valve. Turner syndrome had increased diastolic blood pressure (p < 0.001) and decreased left ventricular end-diastolic (p < 0.001) and end-systolic (p = 0.002) volumes compared to controls. Median aortic size index was 1.81 cm/m2 (interquartile range: 1.45-2.1) and 7 had an aortic size index > 2 cm/m2. Aortic and left ventricular elastance were greater in Turner syndrome compared to controls (both p < 0.001). Increased aortic size index correlated with increased aortic elastance (r = 0.5, p = 0.01) and left ventricular elastance (r = 0.59, p = 0.002) but not aortic compliance. Higher ascending aortic areas were associated with increased aortic compliance (r = 0.44, p = 0.03) and left ventricular elastance (r = 0.49, p = 0.01). Paediatric Turner syndrome with similar aortic size index to controls showed MRI evidence of abnormal aortic biophysical properties. These findings point to an underlying aortopathy and provide additional parameters that may aid in determining risk factors for aortic dissection.

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

4. Histologic Analysis of Gonadal Tissue in Patients with Turner Syndrome and Y-Chromosome Material

4. Histologic Analysis of Gonadal Tissue in Patients with Turner Syndrome and Y-Chromosome Material

Turner Syndrome and Attention-Deficit with Hyperactivity Disorder in a Pediatric Population

Turner Syndrome and Attention-Deficit with Hyperactivity Disorder in a Pediatric Population

Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care.

Turner syndrome (TS), caused by complete or partial loss of the second sex chromosome, is associated with complex medical manifestations. The TS community identifies anxiety as a major contributor to reduced quality of life. The study aimed to improve understanding of anxiety symptomatology, diagnosis, and care in individuals with TS. A mixed methods design integrated community engagement, including community leaders as co-investigators and a community advisory board, an online survey (N = 135), and in-depth interviews (N = 10). The majority of respondents reported that anxiety symptoms occur two or more days per week, with self-advocates reporting more frequent symptoms than caregivers (p = 0.03). Self-advocates reported feeling anxious more often at school/work; both rater groups reported anxiety-related behaviors were most likely to be expressed at home. Insomnia was the most common symptom of anxiety endorsed across age and rater groups (>70%). Anxiety symptoms and triggers changed with age and often were undiagnosed or untreated during childhood. Therapy and medication were reported as helpful by most respondents who had tried these strategies. Qualitative themes included: 'Triggers for anxiety are related to TS', 'Anxiety impacts the whole family', and 'Opportunities for early identification and intervention'.

Genetic advances and multidisciplinary patient care in Turner syndrome

A Turner-szindróma női fenotípussal járó komplex betegség, melynek oka az egyik X-kromoszóma teljes vagy részleges hiánya. Előfordulási gyakorisága leány újszülött esetén 1/2000–2500. A legújabb diagnosztikus kritériumok, a genetikai háttér egyre pontosabb ismerete, a terápiás lehetőségek fejlődése és az egyre részletesebb gondozási protokollok segítséget nyújtanak a betegség minél korábbi felismeréséhez és a betegek életminőségének nagy fokú javításához. A beteggondozás legfontosabb eleme minden életkorban a multidiszciplináris ellátás, mivel a Turner-szindrómás pácienseknél a különböző életszakaszokban más és más, de egyszerre akár több tünet, illetve betegség vagy szövődmény manifesztálódása is várható. A szindrómához társuló fenotípusbeli eltérések nagy variációt mutatnak. Leggyakoribb tünete az alacsony termet, a petefészek dysgenesise által okozott hypogonadismus és következményes késői vagy elmaradt pubertas. Graviditás csupán 4,8–7,6%-ban fordul elő. A testi elváltozások mellett több szervrendszer érintett, így várható különböző, Turner-szindrómával összefüggő betegségek – úgymint veleszületett szív- és vesefejlődési rendellenességek, vérnyomáseltérés, fülészeti, szemészeti, pajzsmirigy-, ortopéd betegségek, neurokognitív diszfunkció, a csont-ásványianyag csökkenése és autoimmun betegségek – előfordulása is. Összefoglalónk célja, hogy segítséget nyújtson a Turner-szindrómás betegek minél korábbi diagnosztizálásához és az élethosszig tartó teljes körű beteggondozáshoz, különös tekintettel endokrinológiai és kardiológiai ellátásukra. Orv Hetil. 2024; 165(11): 416–423.

Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic

Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. This was a multicenter survey study that was sent to pediatric endocrinologists during the pandemic period (June-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, missed dose data and the causes in the recent year (after the onset of the pandemic) were questioned. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% non-adherence). The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and “others“ (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 μg/kg, the annual growth rate was 1.15 standard deviation score (minimum -2.74, maximum 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for non-adherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Non-adherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as non-adherence rate increased. During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.

An unusual cause of unilateral shoulder weakness: Parsonage–Turner syndrome—A case report

An unusual cause of unilateral shoulder weakness: Parsonage–Turner syndrome—A case report

The impact of amplification on quality of life in women with Turner syndrome

BackgroundIndividuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early conductive, and progressive sensorineural hearing loss amid other healthcare needs. Hearing loss is self-identified as one of the largest unmet healthcare needs.PurposeThe purpose of this study was to investigate the impact of treatment for hearing loss on communication confidence and quality of life measures for individuals with TS.Research designWe employed a prospective cross-sectional study design that included both online survey data and audiometric data for a subset of participants.Study sampleWe recruited 179 adults with TS at the Turner Syndrome Society of the United States (TSSUS) Conference, and through a variety of regional TS organizations’ social media platforms. Audiological data was collected onsite at the conference for a subset of 67 participants; 8 of which who were followed after receiving subsequent treatment with hearing aids.Data collection and analysisThe online survey design included demographic questions, the Communication Confidence Profile (CCP), and the RAND 36-Item Health Survey 1.0. Audiometric data included tympanometry, puretone air, and puretone bone conduction thresholds. Descriptive statistics, parametric, and non-parametric tests were used to analyze both survey and audiometric data.Results74% of participants had a self-reported diagnosis of hearing loss, of which 61% were previously recommended amplification. Only 38% of participants reported using hearing aids. For those participants who wore hearing aids, Total CCP Score, ‘Confidence in Ability to Hear Under Various Conditions’, and ‘Energy/Vitality’ metrics were significantly greater than those with untreated hearing loss warranting a hearing aid. Collectively, Total CCP Score and ‘Confidence in Ability to Hear Under Various Conditions’ increased significantly when participants were fit with hearing aids.ConclusionThe results support previous data where hearing loss is a self-identified healthcare concern among women with Turner syndrome, yet many fail to receive appropriate hearing evaluation or treatment. Additionally, the use of hearing aids may improve communication confidence and quality of life in women with Turner syndrome. Furthermore, this study confirms the need for long-term audiological care and monitoring in women with Turner syndrome.