Turner Syndrome Patient Research Articles

Unraveling aortic hemodynamics using fluid structure interaction: biomechanical insights into bicuspid aortic valve dynamics with multiple aortic lesions.

Aortic lesions, exemplified by bicuspid aortic valves (BAVs), can complicate congenital heart defects, particularly in Turner syndrome patients. The combination of BAV, dilated ascending aorta, and an elongated aortic arch presents complex hemodynamics, requiring detailed analysis for tailored treatment strategies. While current clinical decision-making relies on imaging modalities offering limited biomechanical insights, integrating high-performance computing and fluid-structure interaction algorithms with patient data enables comprehensive evaluation of diseased anatomy and planned intervention. In this study, a patient-specific workflow was utilized to biomechanically assess a Turner syndrome patient's BAV, dilated ascending aorta, and elongated arch. Results showed significant improvements in valve function (effective orifice area, EOA increased approximately twofold) and reduction in valve stress (~ 1.8-fold) following virtual commissurotomy, leading to enhanced flow dynamics and decreased viscous dissipation (~ twofold) particularly in the ascending aorta. However, increased viscous dissipation in the distal transverse aortic arch offset its local reduction in the AAo post-intervention, emphasizing the elongated arch's role in aortic hemodynamics. Our findings highlight the importance of comprehensive biomechanical evaluation and integrating patient-specific modeling with conventional imaging techniques for improved disease assessment, risk stratification, and treatment planning, ultimately enhancing patient outcomes.

First successful ovarian cortex allotransplant to a Turner syndrome patient requiring immunosuppression: wide implications

ObjectiveTo determine whether we can safely and successfully transplant an ovary tissue allograft from a non-identical donor to her Turner syndrome sister. DesignTransplantation of cryopreserved ovary tissue, as well as fresh transplantation of ovarian tissue between identical twins, is now well established with numerous reported successful cases. However there have not yet been any ovary transplants between non-identical women requiring immunosuppression (ovary allotransplant). This could be a much more common indication for ovary tissue transplantation if safe and reliable immunosuppression were available. SubjectsA 20 year old amenorrheic woman with non-mosaic 45-XO Turner syndrome requested ovary tissue transplantation from her fertile 22 year old 46-XX sister. They were an HLA match but were ABO incompatible, a well known contra-indication to solid tissue or organ transplantation. The Turner syndrome sister strongly preferred to be able to become pregnant naturally without donor egg IVF, and to avoid HRT (hormone replacement therapy). In her religious group, that would also be important for finding a marital match. Despite the poor prognosis associated with ABO incompatibility, an ovary from her 22 year old non-identical fertile sister was transplanted to her employing the immunosuppression protocol now used for kidney transplant patients in our centers at Washington University and Johns Hopkins. Main Outcome MeasuresPost-operatively at 5 months she developed normal monthly menstrual ovarian function, and she became spontaneously pregnant with a normal baby girl. The relation between her post-op FSH and AMH levels continues to support the theory that tissue pressure controls primordial follicle recruitment. The fact that ABO incompatibility did not prevent success suggests that diffusion and not revascularization may be all that is required for successful long term ovarian cortex transplant survival with spontaneous pregnancy. ResultsOvary allotransplantation with safe immunosuppression allows natural conception, and also normal hormone function obviates the need for HRT. Orthotopic placement of the graft and surgical technique is critical for natural conception and a higher pregnancy rate. ConclusionAllotransplantation requiring safe immunosuppression, if successful, may be a much more commonly used indication for ovary transplantation in the future than frozen ovary grafts or grafts between identical twins.

Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery.

Turner Syndrome (TS) is the most common sex chromosome abnormality in females and is associated with physical changes, hormone deficiencies, increased risk of autoimmune disease, and ocular complications. In this article, we review the main ocular findings associated with TS and discuss their significance for the patient considering refractive surgery. We also present four cases of TS to highlight the clinical findings that may be present in these patients. The most common ocular manifestations include refractive errors, strabismus, and amblyopia. Less commonly, patients with TS may present with keratoconus, cataracts, glaucoma, uveitis, or other disorders of the posterior segment. When considering corneal refractive surgery in a TS patient, clinicians should perform a thorough ocular history, ask patients about hormone therapy and autoimmune conditions, and pay particular attention to any of the associated ocular symptoms of TS.

Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services

In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy and an unmeasurable anti-müllerian hormone serum level. We compare our results with previous research, highlight the challenges we faced in this case and provide recommendations for daily practice. Hereby, we demonstrate that excluding certain subgroups of Turner Syndrome patients (e.g. monosomy patients, and/or girls with an anti-müllerian hormone level below 2.0 ng/l) may be premature, especially based on the current state of published research data. This practical example of a challenging dilemma in the counselling of Turner Syndrome patients for fertility preservation is of interest for clinicians involved in fertility counselling and Turner Syndrome care.

Gastrointestinal bleeding as a life-threatening complication of liver abnormality in a Turner syndrome patient

Background: Turner syndrome is a rare condition with high morbidity and mortality rates, it leads to multiple organ damage when left untreated. Meanwhile, liver involvement in this condition ranges from asymptomatic to severe such as cirrhosis with massive gastrointestinal bleeding. This study presents a case of gastrointestinal bleeding due to cirrhosis in Turner syndrome where the patient showed third-grade esophageal varices as a sign of portal hypertension. Case Presentation: A 26-years old female came to the Emergency Department of Dr. Soetomo General Hospital in Surabaya with massive gastrointestinal bleeding. The patient was a Turner syndrome, diagnosed ten years ago. The patient was negative for hepatitis B surface antigen (HbsAg) and anti-hepatitis C virus (anti-HCV). The gastric lavage was performed to reduce active bleeding with blood transfusion. The upper gastrointestinal endoscopy indicated portal hypertension with third-grade esophageal varices, fibro scan indicated cirrhosis hepatic and abdominal CT-scan showed early cirrhosis and splenomegaly supporting the presence of portal hypertension. Since the patient refused to endoscopic varices ligation, hematemesis repeated three times after the first visit resulting death of the patient. Conclusion: This is a Turner syndrome patient who experienced life-threatening gastrointestinal bleeding as complication of liver abnormality. This case highlights that liver cirrhosis should be evaluated in individuals with Turner syndrome to prevent such complications.

The challenge of defining predictive parameters for fertility preservation counseling in young females with Turner syndrome

Sir, Recently, a review by Nawroth et al and an accompanying editorial on fertility preservation (FP) counseling in females with Turner syndrome (TS) by Rodriguez-Wallberg and Landin-Wilhelmsen were published.1, 2 We agree with the authors of both articles that FP counseling in TS patients is challenging because the decision to perform FP depends on multiple factors and not just on the ovarian reserve. Nawroth et al present in their review a flowchart to summarize their recommendations, which in our opinion is far too simplistic. This has been partially covered in the editorial.2 However, we would like to address several additional points that require further attention. First, the flowchart indicates that cardiologic screening should only be provided to monosomic TS patients. We agree with the opinion expressed in the editorial that cardiologic screening should be provided to all TS patients, in accordance with the Swedish guidelines for management of women and girls with TS.2 In line with the Cincinnati clinical practice guideline of TS patients, each girl in the Netherlands diagnosed with TS will have a diagnostic work-up phase, including cardiologic screening, which is similar to the Health Care Program in Sweden. Although it is reported that mosaic TS patients have a lower risk of cardiovascular and obstetric complications compared with other TS patients, cardiovascular complications can occur in all women with TS.3 Therefore, the karyotype of TS patients cannot be used as a predictive marker for cardiovascular risk evaluation. Secondly, the flowchart of Nawroth et al divides TS in two groups based on karyotypical aberrations. Peek et al have recently shown that the level of mosaicism in extra-ovarian cells was not predictive of the level of mosaicism in ovarian cells in the same patient.4 These findings have been substantiated by a case report of a girl who was initially diagnosed with 45,X, whereas a cryptic mosaicism was present in the ovary.5 Therefore, it is difficult to assign TS patients to a particular group, as cryptic cell lines may be present in the ovary that are likely to determine its reproductive potential. In our opinion, an international standard should be developed, describing which peripheral cells and number of cells should be karyotyped in order to assign a TS patient to a specific group. Thirdly, Nawroth et al gave anti-Müllerian hormone (AMH) a central position in their flowchart despite their statement that the prognostic value of AMH in determining the ovarian reserve in young TS patients is limited. Hagen et al reported that AMH levels correlated significantly with ovarian function in a relatively small group of TS patients aged 12-25 years and stated that this marker might be used for this group during FP counseling.6 However, the flowchart also presents AMH as a prognostic marker for prepubertal children, whereas it remains unclear what the prognostic value of AMH is in this group. Furthermore, AMH levels measured at different time points can vary considerably in the same patient, due to biological variability and inter-test variability of AMH assays. Therefore, adequate interpretation of AMH levels in this group is difficult. FP counseling in young TS patients is challenging and reliable predictive parameters are required to optimize this process. AMH should be interpreted with caution, due to its known limitations.

Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.

Turner syndrome through the lens of a gynaecologist.

Turner syndrome is a rare condition affecting 1 in 2500 female births and yet is the most common sex chromosome abnormality in women. Described as a cradle-to-grave condition, it requires life-long multidisciplinary management. Accelerated atresia of the primordial follicular pool leads to premature ovarian insufficiency, which is an almost inevitable feature of Turner syndrome, especially in 45XO karyotype. Many patients will have had their diagnosis made in childhood and require paediatric endocrinology management especially for induction of puberty. At the age of 18, patients may then be transitioned to an adult service. Continuation of multidisciplinary care for these women requires input from specialist services in menopause care, reproductive medicine and high-risk pregnancy, cardiology, endocrinology, bone health and psychosocial care. A gynaecologist may take on the mantle of lead clinician especially during the perceived reproductive years of a Turner syndrome patient's life, hinging together management input from other disciplines. This review attempts to summarise an overview of the involvement of such a multidisciplinary team in the management of a single but complex condition, through the lens of a gynaecologist.

A preliminary study on the mechanism of skeletal abnormalities in Turner syndrome using inducing pluripotent stem cells (iPS)- based disease models.

Osteoporosis represent one of main characteristics of Turner syndrome (TS), a rare diseases caused by aberrant deletion of X chromosomes, however, the underlying pathological mechanism remains unknown yet. In this study, we used pluripotent stem cells (iPSCs) derived from a Turner syndrome patient and a health control to induce functional osteoblasts and osteoclasts, in order to compare their difference in these two differentiation. We successfully produced functional osteoblasts and osteoclasts from iPSCs through embryoid bodies (EBs) and mesoderm stages, as demonstrated obvious mineralized nodules and multi-nuclear giant cells with positive tartrate-resistant acid phosphatase (TRAP) staining, and significant up-regulated differentiation marker genes. Interestingly, we found that there was no significant difference in phenotype and marker genes expression between osteoblasts from Turner syndrome and healthy control iPSCs. In contrast, Turner syndrome showed increased osteoclastogenesis compared to the healthy control indicating higher frequency of multi-nuclear TRAP staining cells and elevated osteoclast marker genes TRAP, MMP9, CA2, OSCAR. Therefore, our results suggest that the low bone density of Turner syndrome patients may be caused by aberrant osteoclast differentiation, and further investigation towards osteoclast function under Turner syndrome is deserved.

Lichen planus-like drug reaction associated with recombinant human growth hormone therapy in a child patient with Turner syndrome

Turner syndrome (TS) is a genetic disease with an incidence rate of between 1:2000 and 1:5000 live female births. The treatment of TS differs according to age and Recombinant Human Growth Hormone (RHGH) therapy is usually given for the treatment of short stature in girls with TS in childhood. We describe the first case of a TS patient who presented with a clinical picture compatible with oral and palmoplantar lichen planus-like reaction during RHGH therapy; spontaneous remission occurred after therapy suspension.

Donación de ovocitos vitrificados en paciente con síndrome de Turner

El síndrome del Turner es una aberración cromosómica con pérdida total o parcial de uno de los dos cromosomas sexuales. La característica clásica es la baja estatura y la insuficiencia ovárica debido a la disgenesia ovárica. La donación de ovocitos ha hecho posible que pacientes con ST puedan gestar, pero con alta mortalidad materna por rotura de la arteria aorta o por desórdenes hipertensivos. Se da a conocer el embarazo múltiple de un paciente con ST en un programa de donación de ovocitos vitrificados.

Effects of aortic irregularities on blood flow

Anatomic aortic anomalies are seen in many medical conditions and are known to cause disturbances in blood flow. Turner syndrome (TS) is a genetic disorder occurring only in females where cardiovascular anomalies, particularly of the aorta, are frequently encountered. In this study, numerical simulations are applied to investigate the flow characteristics in four TS patient- related aortic arches (a normal geometry, dilatation, coarctation and elongation of the transverse aorta). The Quemada viscosity model was applied to account for the non-Newtonian behavior of blood. The blood is treated as a mixture consisting of water and red blood cells (RBC) where the RBCs are modeled as a convected scalar. The results show clear geometry effects where the flow structures and RBC distribution are significantly different between the aortas. Transitional flow is observed as a jet is formed due to a constriction in the descending aorta for the coarctation case. RBC dilution is found to vary between the aortas, influencing the WSS. Moreover, the local variations in RBC volume fraction may induce large viscosity variations, stressing the importance of accounting for the non-Newtonian effects.

A study of arterial stiffness in turner syndrome patients using cardio-ankle vascular index

A large proportion of the increased mortality in Turner syndrome (TS) is related to cardiovascular complications. Increased arterial stiffness may be an important predictor related to cardiovascular complications in TS patients. A novel method of evaluating arterial stiffness, which is relatively independent of changes in blood pressure (BP), is the cardio-ankle vascular index (CAVI). The aim of this study was to compare arterial stiffness using CAVI between TS patients and healthy controls and to evaluate for possible factors affecting arterial stiffness within the patient group. Known TS patients (n=24) with confirmed karyotypes were recruited from the outpatient clinic of Seoul National University Children’s Hospital between August, 2010 and June, 2013. Patients with type 2 diabetes and/or hypertension requiring medication were excluded. There were 5 patients with one or more combined congenital heart anomalies (aortic coarctation (n=2), bicuspid aortic valve (n=2), aortic stenosis (n=3). Anthropometric data, fasting blood lab and measurements of CAVI and pulse wave velocity were collected. A healthy control group (n=23) matched for age and body mass index (BMI) were recruited for comparison. The mean age and BMI of the TS patients were 27.0 years and 22.8 kg/m2 respectively while that of the control were 28.2 years and 22.04 kg/m2. CAVI was significantly higher in the TS patients compared to controls (6.05 vs. 6.65, P < 0.001), while there was no significant difference in pulse wave velocity. Univariate analysis for factors affecting CAVI within the TS patient group showed that CAVI was associated with waist circumference (P = 0.04) and systolic BP (P = 0.045). There were no significant factors related to CAVI using multivariate regression analysis including age, systolic BP, waist circumference, HOMA-IR and presence of cardiac anomalies. TS patients showed an increased arterial stiffness compared to age- and BMI-matched controls using CAVI measurement. Further prospective studies in larger TS patient group are mandatory in order to find significant factors related to increased arterial stiffness.

A Case of Ankylosing Spondylitis and Ichthyosis Vulgaris in a Turner Syndrome Patient with a Rare Karyotype

ABSTRACT Objective: Turner syndrome (TS) is a chromosomal disorder in which patients have either a missing X chromosome (45,X), a structural aberration of sex chromosome, or mosaicism including mos 45,X/46,XY. We present a case of TS with unusual ankylosing spondylitis (AS) and ichthyosis vulgaris (IV) carrying a rare karyotype of 45,X[100]/46,X,idic(Yp)[12](pter-q11::q11-pter). Methods: A review of the literature was conducted to identify previous case reports pertaining to TS accompanied with AS and compare them with the current case. Results: The patient presented with positive human leukocyte antigen (HLA) B27, lowered estrogen, and elevated follicle-stimulating hormone and luteinizing hormone levels. Ultrasound examination showed no uterus or ovaries. The patient carried a mosaic karyotype of 45,X[100]/46,X,idic(Yp)[25].ish(DXYS129+,DXYS153+ +,SRY++,DYZ3++,Yq12-) for metaphase peripheral blood lymphocytes and 45,X[100].ish(DYZ3-) for interphase buccal cells. Molecular genetic analysis revealed that t...

Turner’s syndrome And Obsessive Compulsive Disorder – A Case Report

The loss of all or part of one X sex chromosome during embryogenesis results in Turner's syndrome (TS). Certain studies showed specific cognitive deficits and psychiatric manifestations like mood and anxiety disorder .There are case reports of concomitant TS with schizophrenia. We present here a case of TS with clinical features of delayed attainment of secondary sexual characters, short stature, overweight, wide carrying angle and short bilateral 4 th metacarpals and metatarsals. Her ultrasound of abdomen and pelvis, showed hypoplastic infantile uterus and streak like ovaries. The TS patient had psychiatric manifestation of obsessive compulsive disorder, which has not been reported so far. The co-existence of Turner's syndrome and OCD gives a clue of any possibility of genes related to aetiology of OCD. It is important for the practitioners to understand the clinical spectrum and natural courses, including the development of psychiatric disorder in TS.

A turner syndrome patient carrying a mosaic distal x chromosome marker.

A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

Numerical Aberrations Involving The X Chromosome As a New Recurrent Aberration In Patients With Chronic Lymphocytic Leukemia

Genomic aberrations in CLL are important independent predictors of disease progression and survival in chronic lymphocytic leukemia (CLL). The most frequent changes are a deletion in 13q with a median survival of 133 months, a deletion in 11q (median survival 79 months), trisomy of chromosome 12 (114 months) and a deletion in 17p (32 months) (Döhner et al., NEJM, 2000; Hallek et al., Lancet, 2010).Between 2001 and 2012 we performed cytogenetic analyses of 2360 patients with CLL. We detected clonal chromosome aberrations in 1298/2360 (55%). Besides typical recurrent aberrations associated with CLL, we observed in 72/2360 (3%) clonal numerical aberrations involving the X chromosome. In 50/72 patients (69%) a loss of chromosome X and in 22/72 patients (31%) a gain of an X chromosome was detected.So far, numerical alterations of the X chromosome have not been described as recurrent aberrations detected in CLL. In order to understand their significance, we analysed those cases in greater detail.Median age of patients was 69 years (33-89 years) and the sex distribution was 64 female and 8 male (ratio 8:1). The patient cohort with the loss of the X chromosome consisted of 48 female and two male patients between 35 and 89 years of age (median age 69 years). In 52% (26/50) loss of chromosome X was detected as a sole abnormality and 22% (11/50) showed the loss of X within a complex karyotype. There was an association between loss of the X chromosome and trisomy 12 in 10% (5/50) and with deletion in 13q in 22% (11/50). In two cases, a clonal evolution was observed with the loss of the X chromosome in the main clone. Four independent clones (8%) were identified, three with trisomy 12 (6%) and one with a deletion in 11q (2%).Further, we analysed cases with a gain of the X chromosome (22 patients with CLL (16 female,6 male) between 33 and 81 years of age (median age 63 years)). In 15/22 patients (68%) a gain of the X chromosome was identified as a sole abnormality and in 6 of 22 within a complex aberrant karyotype. In 3/22 patients (14%) with an isolated gain of the X chromosome, we detected an independent clone. The independent clone was a trisomy 12 (two patients) and a monosomy X (one patient). In two cases, a clonal evolution was identified with gain of chromosome X in the subclone as a secondary event.Interestingly, the clone size was rather small. The median size of clones with loss of the X chromosome was 6/20 metaphases (30%) and with gain of the X chromosome was 4/20 metaphases (20%). In 8 patients, a loss of chromosome X could be detected in two metaphases only or a gain in one metaphase only, not fulfilling the criteria for clonality. In these cases, fluorescence in situ hybridization never confirmed the presence of a clone with X chromosome abnormalities.Even though a monosomy X has been reported as a recurrent somatic sole abnormality in MDS, it is not a characteristic aberration specific for any subtype of leukemia, lymphoma or a solid tumor (Abruzzese et al., Cancer Genet Cytogenet, 1997). The constitutional loss of the X chromosome is associated with Turner syndrome, a genetic disorder affecting 1/2500-3000 live-born. Notably, in a mosaic Turner syndrome patient with CLL, abnormal clones were restricted to the monosomic cells, indicating that loss of the X chromosome provides an advantage for leukemia cells (Manola et al., Leuk Res., 2008). However, CLL is not associated with Turner syndrome.A gain of chromosome X was observed by Aamot et al. (J Cancer Res Clin Oncol., 2007) in 17% of patients with follicular lymphomas as a secondary aberration with the characteristic translocation t(14;18) not affecting the overall survival. This is in accordance with our findings that a gain of the X chromosome could be a characteristic aberration in lymphatic neoplasms. Since we detected the aberrations involving chromosome X mostly in CLL, a constitutional mosaicism is unlikely. Otherwise, a constitutional mosaic would possibly be a predisposing factor for CLL. Putative candidate genes on chromosome X are not known. BRWD3, located on Xq13, encodes a bromodomain and WD repeat domain-containing protein and could be a putative novel transcription factor, since it is involved in translocations and is slightly down-regulated in CLL patients (Kalla et al., Genes Chromosomes Cancer, 2005).In summary, we identified numerical aberrations of the X chromosomes as new recurrent aberrations in CLL. The impact is still unknown and has to be analysed in further studies. Disclosures:No relevant conflicts of interest to declare.

Turner syndrome: fifteen years' experience in India.

Turner Syndrome (TS) is the commonest chromosomal abnormality in females, estimated to affect ~3 % of all female fetuses. Only 1 % of affected fetuses survive to term, leading to an incidence of ~1 TS patient per 2,500 live female births [1]. Data regarding clinical course and cytogenetics of Indian patients with TS were scarce. We found 2 clinical series with 45 and 24 patients [2, 3] and one article [4] dealt with the results of growth hormone treatment on Indian TS patients. In view of this paucity of Indian data, we searched our database from 1996 to 2010 and came up with 35 patients of TS, whose results are incorporated in this presentation.

A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. An increased risk for hypothyroidism, sensorineural hearing loss, hypertension, and other problems has also been reported. We present the case of a patient with TS accompanied by transient hypogammaglobulinaemia of infancy (THI) and central diabetes insipidus, which we believe is the first reported TS patient with these concomitant disorders.Conflict of interest:None declared.

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p

Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter→2q37::10p13→10pter)[127]/45,X,der(2)t(2;10)(2pter→2q37::10p13→10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4years and now re-evaluated at the age of 14years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p.These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.