Case Of Turner Syndrome Research Articles

DNA methylation-based sex classifier to predict sex and identify sex chromosome aneuploidy

BackgroundSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable.ResultsHere we presented a novel method to predict sex using only DNA methylation beta values, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only signal intensities) uploaded to GEO. We identified 4345 significantly (p<0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first principal components of the DNA methylation data of sex-associated probes mapped on sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case.ConclusionsThis proposed sex classifier not only can be used for sex predictions but also applied to identify samples with sex chromosome aneuploidy, and it is freely and easily accessible by calling the ‘estimateSex’ function from the newest wateRmelon Bioconductor package (https://github.com/schalkwyk/wateRmelon).

Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes

ObjectiveThis paper discusses the possible etiologies for the proportionate short stature of a female individual and provides data to allow the diagnosis of future cases of Turner Syndrome (TS) in paleopathology. MaterialsSkeleton of a 26-years-old maid, from the Coimbra Identified Skeletal Collection, who died of measles in 1920. MethodsMacroscopic examination, imaging techniques, and metric analysis. ResultsHer estimated height is 138.91–144.3 cm, approximately three standard deviations below the average female stature for early 20th century Portugal. The crural, brachial, humero-femoral, and intermembral indexes show a proportionate body, uncommon in dwarfism. Small skull with prominent frontal, maxillary prognathism, enamel hypoplasia, cribra orbitalia, porotic hyperostosis, proliferative reaction in the petrous portion of the temporal, obliterated sagittal suture, oval foramen magnum, and small mandible with masculine features. The sternal ends of the ribs are wider and vertebrae present developmental defects (e.g. atlas with both left transverse foramina and posterior tubercle open, absence of the right transverse foramen in the axis, sacrum with six vertebrae). ConclusionsThe differential diagnosis point to a possible case of Turner Syndrome. SignificanceThis study describes the features of Turner Syndrome and provide detail metric analysis of this individual, which will be useful for future paleopathological diagnoses. LimitationsThe confirmation of the diagnosis will only be possible through genetic analysis. Suggestions for further researchReanalysis of skeletal individuals with short stature to detect possible cases of Turner Syndrome.

Screening of Group of Iraqi Patients with Turner’s Syndrome in Relation to Karyotype-Phenotype Variation

Background: There is variation in karyotype that can be related with the phenotype difference in patientswith Turner syndrome (TS).Objective: Asses the relationship between karyotype and phenotype of confirmed Turner Syndrome patientsand Screening them for related congenital and immunological conditions.Methods: Eighty-five cases of TS were comprised. Patients were indicated mainly for evaluation of shortstature and (or) delayed puberty; Standard karyotyping was analyzed on the basis of routine G-bandingtechnique. Turner’s syndrome is divided into traditional and non-traditional with further categorization withrespect to Karyotype. After full examination, screening tests comprising thyroid function tests, celiac screen,Echocardiography, Renal and pelvic ultrasonography was achieved.Results: Webbed neck and Dysmorphic facial characteristics were more found during clinical examinationin traditional TS versus Non-traditional Turner’s syndrome with p-value of 0.01 and0.027, respectively.Abnormal thyroid function tests were more common in traditional TS than Non-traditional, p-value 0.02.Abnormal findings (mainly streak ovary) on pelvic ultrasound (US) was also more common in traditionalTS than Non-traditional, p-value 0.01.Conclusion: Screening of patients with Turner’s syndrome with respect to phenotype -karyotype differencecan provide opportunities for enhancement of our knowledge, diagnosis and further management.

The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

IntroductionTurner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far.Case presentationA 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed.ConclusionThe diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

A Case of Prenatal Diagnosis of Turner Syndrome with Ultrasonography

Objective: To report a case of Turner syndrome diagnosed in prenatal care.Method: A case report.Case: Case of Mrs. Y 26-year-old woman G2P1A0L1 diagnosed on 19-20 weeks of gestation with Turner syndrome. Ultrasound examination findings were hydrops fetalis on the neck region, multiple septated cystic masses, subcutaneous edema, ascites, and hydrothorax. Subsequently, amniocentesis was performed and the chromosome analysis result showed Turner syndrome (45, X0). The patient was induced vaginal delivery on 22-23 weeks of pregnancy due to intrauterine fetal death indication. The baby was born with ambiguous genitalia, birth weight 500 grams, birth length 22 centimeters, and Apgar’s score was 0/0. The congenital anomalies discovered include subcutaneous edema, ascites, hydromacolly, and hydrops fetalis.Conclusion: Turner syndrome can be diagnosed at a prenatal period by ultrasound examination. Keywords: Turner Syndrome, Hydrops Fetalis, Ultrasonography

Spontaneous puberty in Turner’s syndrome: A case report

Turner syndrome is a pan-ethnic congential disorder caused by the partial or complete absence of one of the X chromosomes in females. Development of secondary sexual characteristics or menarche or spontaneous conception in Turner syndrome requires hormonal replacement therapy. Only a very few cases have been documented with spontaneous menarche with Turner syndrome. In this report, we are presenting a case of Turner syndrome, along with thyroid dysfunction who had spontaneous menarche. Keywords: Spontaneous puberty, Spontaneous menarche, Turner syndrome.

A rare case presentation of Tuberculous Otitis Media with turner syndrome

A 17-year-old female patient who came to the Otorhinolaryngology and Head and Neck Surgery department with chief complaints of bilateral ear discharge and hearing loss Since 1 year. She was diagnosed as a case of Turner syndrome based on Cardic-CT, USG-pelvis, CT-MRI Pelvis with Abdomen Screening, and Chromosomal analysis revealed 45, X pattern in all the metaphases. In the Preoperative investigations, Pure tone audiometry shows left ear (83dB HL) severe mixed hearing loss and right ear has (63dB HL) with moderately severe mixed hearing loss and in HRCT-Temporal bone features suggesting the most possibility of bilateral Cholesteatoma. Pre operatively Left ear soft tissue Histopathological examination was showed Cholesteatoma with active inflammation. Tympanomastoidectomy was planned for left ear and performed the procedure was Canal wall down mastoidectomy with type 3 tympanoplasty. Intraoperatively findings were thick KORNER’S septum, full of pale non bleeding granulations in antrum, aditus and around ossicles were observed in the middle ear. After surgery, Postoperative histopathology report showed necrotizing granulomatous inflammation consistent with tuberculosis (special stain for AFB is positive). In conclusion primarily this is a very rare case of Tuberculous Otitis Media. In such type of cases there are more chances of misdiagnosing by many clinicians as Tuberculosis was rarely occur in the ear and most of the findings are also absent as seen in our case. It is difficult to identify and diagnose the case at initial stages of a disease. In such type of cases outcome of patients is poor due to delayed diagnosis.

Cardiovascular Complications in Patients with Turner's Syndrome.

Turner's or Turner syndrome (TS) is the most prevalent chromosomal abnormality in live female births. Patients with TS are predisposed to an increased risk of cardiovascular diseases (CVD), mainly due to the frequently observed congenital structural cardiovascular defects, such as valvular and aortic abnormalities (coarctation, dilatation, and dissection). The increased prevalence of cardiometabolic risk factors, such as arterial hypertension, insulin resistance, diabetes mellitus, dyslipidaemia, central obesity, and increased carotid intima-media thickness, also contribute to increased morbidity and mortality in TS patients. Menopausal hormone therapy (MHT) is the treatment of choice, combined with growth hormone (GH). Although MHT may, in general, ameliorate CVD risk factors, its effect on CVD mortality in TS has not yet been established. The exact effect of GH on these parameters has not been clarified. Specific considerations should be provided in TS cases during pregnancy, due to the higher risk of CVD complications, such as aortic dissection. Optimal cardiovascular monitoring, including physical examination, electrocardiogram, CVD risk factor assessment, and transthoracic echocardiography, is recommended. Moreover, the cardiac magnetic resonance from the age of 12 years is recommended due to the high risk of aortic aneurysm and other anatomical vascular complications.

Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates.

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.42%); the specificity was 0.975 (97.56%); the positive predictive value was 0.909 (90.91%) and the negative predictive value was 0.987 (98.77%). Conclusions: Gene copy number analyses of the VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.

A Case of Turner Syndrome Caused by Partial Long Arm Deletion of the X Chromosome With Diabetes Mellitus

A Case of Turner Syndrome Caused by Partial Long Arm Deletion of the X Chromosome With Diabetes Mellitus

Turner syndrome associated with cerebellar abnormalities

We present an autopsied fetus with Turner syndrome (TS), obtained after a therapeutic abortion at the Clinic of Obstetrics and Gynecology at the University Hospital, Plovdiv, Bulgaria. It was a female fetus weighing 75 g. The chorionic villus sampling followed by karyotyping established monosomy XO. The fetal autopsy confirmed agenesis of the cerebellar vermis and cerebellar hypoplasia. The immunohistochemical study of the brain with S100 protein (S100), glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE), and cluster of differentiation 68 was taken into consideration. The presence of extensive gliosis reaction is proved in the cerebellar structures of TS by the positivity of glial markers: (GFAP) and S100 protein. The quantity of neurons proved by NSE marker is probably associated with the deficiency of differentiation and cell migration caused by inhibition in the development of young cells. The presented case of TS found a new phenotype with cerebellar abnormalities described for the first time.

Spectrum of Turner's syndrome: Our experience

Introduction: Turner's syndrome (TS) is the most common sex chromosome disorder in women, with an incidence of 1 in 2,500 female births. TS is characterized by distinctive features of short stature, streak gonads, increased risk of heart and renal defects and specific cognitive and psychosocial phenotype. Materials and Methods: We conducted a study in the department of endocrinology, GGH, Kurnool, for one year. 27 cases presented with short stature and primary amenorrhea, recurrent otitis media, were diagnosed as TS after detailed workup. We started growth hormone therapy for some patients with short stature. Gonadectomy was conducted for TS patients with Y component, and they were asked for regular follow-up. Results: Out of 27 cases, 12 were found to be turner mosaic, 15 were classical cases of TS. Conclusion: TS can be diagnosed with a high degree of clinical suspicion and confirmed by karyotyping. TS if identified earlier, growth can be achieved to the maximum potential. Early identification and proper management can improve the outcome and decrease the complications associated with TS.

Algorithm-driven electronic health record notification enhances detection of Turner syndrome

Causes for short stature in females are numerous; Turner syndrome is among the commoner etiologies. A simple blood test, array comparative genomic hybridization (aCGH, commonly called "microarray") or karyotype, can typically identify partial or complete absence of the second sex chromosome. Chromosome analysis has been a standard recommendation in evaluating idiopathic proportional short stature in females (J Clin Endocrinol Metab 2008;93:4210–7) (Genet Med 2009;11:465–70). In this volume of The Journal, Alexandrou et al used an algorithm-driven review of electronic health records (EHRs) to identify 216 females with idiopathic short stature, of which 72 females had never received chromosome analysis. Interestingly, the females who received chromosome analysis were significantly shorter with a greater mid-parental height deflection than those who had not received either microarray or karyotype. Of the 72 patients initially identified without chromosome analysis, 32 were successfully studied with aCGH. Of these, 2 new cases of Turner syndrome were identified and 1 new patient had a chromosome copy number variant associated with short stature. This study demonstrates the power of EHRs in capturing signs and symptoms of unrecognized diseases. As the completeness of EHRs becomes widespread, the strategy of recognizing overlooked healthcare needs by searching for signs in the EHR may be more frequently used. This strategy can also identify deviation from disease-specific guidelines and help to create systematic compliance with standards of care. In this study, one-third of females with idiopathic short stature did not receive the recommended (10 years ago) chromosome analysis in their initial evaluations. EHR-driven strategies could help compliance with disease-specific guidelines and serve as a focus for quality improvement. Article page 227▸ Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner SyndromeThe Journal of PediatricsVol. 216PreviewEarly diagnosis of Turner syndrome enhances care, but in routine practice, even within larger referral centers, diagnosis is delayed. Our study examines the utility of an electronic health record algorithm in identifying patients at high risk for Turner syndrome. Six percent of those identified had missed diagnoses of Turner syndrome. Full-Text PDF

Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France

BackgroundThe observed rate of termination of pregnancy (TOP) for Turner syndrome varies worldwide and even within countries. In this vignette study we quantified agreement among ten multidisciplinary prenatal diagnosis centers in Paris.MethodsWe submitted online three cases of Turner syndrome (increased nuchal translucency, normal ultrasound, aortic coarctation) to fetal medicine experts: one obstetrician, one pediatrician and one geneticist in each of the ten Parisian centers. Each case was presented in the form of a progressive clinical history with conditional links dependent upon responses. The background to each case was provided, along with the medical history of the parents and the counseling they got from medical staff. The experts indicated online whether or not they would accept the parents’ request for TOP. We assessed the percentage of agreement for acceptance or refusal of TOP. We also used a multilevel logistic regression model to evaluate differences among obstetrician-gynecologists, pediatricians and cytogeneticists.ResultsOverall agreement among the experts to accept or refuse TOP was, respectively, 25 and 28%. The percentage of disagreement was 47%. The percentage of agreement to accept TOP was 33, 8 and 33% for obstetrician-gynecologists, pediatricians and cytogeneticists, respectively. The respective percentages of agreement to refuse TOP were 19, 47 and 26%.ConclusionOur results show the lack of consensus with regard to decisions related to termination of pregnancy for Turner Syndrome. This lack of consensus in turn underscores the importance of multidisciplinary management of these pregnancies in specialized fetal medicine centers.

EP05.03: An atypical case of Turner syndrome

Turner syndrome is a genetic disease with a karyotype of 45, X or 46, XX/45, X (mosaicism). 1/2500 female live births are affected, although 15% of spontaneous miscarriages show an X monosomy and only 1% of fetuses will survive to term. Typical prenatal findings are nuchal cystic hygroma, nonimmune hydrops, and renal and cardiac abnormalities. However, neither sonography nor maternal serum screening can be considered diagnostic of Turner syndrome, and karyotype confirmation is mandatory. A 38-year-old III gravida II para presented for first trimester screening in 13 gestational weeks. The first child was born with biliar atresia and needed living liver donation at the age of 3 weeks. The 2nd child is healthy. This fetus presented with a nuchal fold of 3.3.mm, generalised edema and an early IUGR at a CRL of 55mm. The nasal bone was hypoplastic. The fetus showed hypertelorism, low set ears and a strawberry shaped head. The IT was not visible and a sacral spina bifida was detected. Besides an omphalocele, there was a congenital heart defect, suspicious for TOF with pericardial effusion, cardiomegaly, VSD, overriding aorta and suspected pulmonary stenosis. CVS was performed but probably contaminated by maternal cells. In the framework of scientific research postnatal molecular karyotyping could surprisingly confirm 45/X0 twice. In conclusion, as our case shows, Turner syndrome can present with a broad heterogenity of signs and symptoms. The wide range of prenatal features indicates that a number of different X-located genes are responsible for the complete phenotype. Nevertheless affected fetuses show a substantial number of early-onset signs that can be detected in the first trimester, i.e. cystic hygroma, fetal hydrops, cardiac defects and increased nuchal translucency and can be diagnosed in early pregnancy. The difference in the appearance of NT in each chromosomal defect may reflect the heterogeneity of causes, hence invasive diagnostics is mandatory. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

MON-249 Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome

BACKGROUND: Turner syndrome (TS) results from a complete or partial loss of the second X chromosome and affects 25-50 per 100,000 females. TS is common in females with unexplained short stature, but the diagnosis is often not made until late childhood (8-9 years) if classic features are not present or recognized in infancy. This results in delayed medical intervention and screening for comorbid conditions. The aim of our study was to determine if an electronic health record (EHR) notification model improves the timing and rate of detection of TS. METHODS/RESULTS: A search of the EHR was performed to identify a cohort of females with idiopathic short stature (ISS) who were seen in the endocrine clinic from 2012-2017. Selection criteria included a height ≤ -2 SD, BMI > 5%-ile, absence of chronic illness, and presence of mid-parental height (MPH) data, which yielded 216 patients. Given that a height deflection from MPH %-ile is one of the better predictors of TS1, we focused on those ≥ 1 SD below MPH %-ile. Of these 189 patients, 72 (38%) hadn’t received prior genetic testing. This group formed our study population and microarray analysis was performed on available samples to assess for undiagnosed TS or other chromosomal abnormalities. A total of 39 patient samples were prospectively recruited or obtained from an IRB approved biobank (including 5 TS controls). Microarray data was generated for 37 samples, as 2 had an insufficient quantity of DNA, and data was manually analyzed by a cytogeneticist. We identified two cases of undiagnosed TS (6%) and one with a different chromosomal abnormality (3%). One of these patients returned to endocrine clinic prior to microarray analysis and had a karyotype of 45,X/46,XY. The two other chromosomal abnormalities were picked up by microarray. One had mosaic monosomy X (45,X/46,XX). The other had a 2.7 Mb deletion from chromosome 1 (1q25.3->1q31.1) and a 2.1 Mb duplication from 22q11.21, which has been associated with short stature. CONCLUSIONS: The EHR algorithm was effective at identifying patients at risk for TS that merit genetic testing. Of the ISS females ≥ 1 SD below their MPH %-ile, 38% never had a karyotype done and on further investigation two new cases of TS (6%) and one other chromosomal abnormality (3%) were found. Although not all patients had DNA available for microarray analysis, if we assume that all other cases were negative, the rate of undiagnosed TS would still approach 3%. Extrapolating this data to a larger scale suggests that the diagnosis of TS may be delayed for many females with ISS, even after evaluation in endocrine clinics. We recommend the implementation of additional tools in the clinic workflow, such as EHR alerts based on specific growth parameters, to increase clinical suspicion and testing for TS. REFERENCES: 1. Grote, FK, et al (2008). Developing evidence-based guidelines for referral for short stature. Archives of Disease in Childhood,93(3), 212-217.

SAT-294 A Case of Turner Syndrome with Ambiguous Genitalia

Background: Turner syndrome is a common genetic condition caused by complete or partial absence of X chromosome. Often this condition is diagnosed prenatally. Neonates with this condition have variable presentations at birth, depending on the severity of genetic defect. Often these babies are born with cystic hygroma, facial dysmorphism, short stature and cardiac defects. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual patient with prenatal diagnosis of Turner syndrome, who presented with palpable gonads and ambiguous genitalia at birth. Clinical case: Full term baby born with dysmorphic features suggestive of Turner syndrome. Prenatal testing raised suspicion for genetic defects. Amniocentesis confirmed 45X karyotype. Baby was born with cystic hygroma, bicuspid aortic valve, and congenital hypothyroidism. External genetalia were ambiguous with almost complete fusion of the labia, prominent clitoromegaly, severe hypospadias and palpable right gonad. Pelvic ultrasound failed to show any Mullerian structures. These findings raised the suspicion for mosiasm. Microarray and Blood karyotype with 50 cell count again revealed 45X karyotype. FISH analysis was negative for SRY gene and exhibited one signal for X chromosome only. Due to rising Testosterone and elevated 17-hydroxyprogesterone and anti-müllerian hormone, further testing was done. FISH analysis on fibroblast cultures was positive for SRY gene and confirmed 3/200 cells with 46XY karyotype. Male gender was assigned after mutual agreement between neonatologist, urologist, endocrinologist and parents. Gonadal biopsy and surgical correction is pending at the moment. Conclusion: The clinical phenotype of Mixed gonadal dysgenesis MGD with 45X/46XY karyotype is broad, with varying degree of genital ambiguity. The degree of genital ambiguity is not correlated with the presence and proportion of mosaic clones in different tissues. Our patient presented with somatic features of Turner syndrome, consistent with the karyotype identified in the blood. Genital ambiguity and lack of Mullerian ducts prompted further workup confirming MGD. A small number of patients with karyotype 45X/46XY can present with ambiguous genitalia and somatic features of Turner syndrome. Our case stresses out the importance of screening for a Y chromosome in cell lines other than blood in all Turner Syndrome patients and in patients with genital ambiguity.

A unique case of Turner syndrome with spontaneous intracranial artery dissection (P2.3-065)

A unique case of Turner syndrome with spontaneous intracranial artery dissection (P2.3-065)

Detection of the SRY gene in patients with Turner Syndrome

BackgroundIf turner syndrome (TS) patients have a Y-containing cell line, they have an increased risk for gonadal tumors. TS patients are therefore screened for Y-chromosome and Y-specific sequences, such as SRY, DYZ1, DYZ3, DYS132, ZFY, TSPY, etc. In addition, since the dysgenetic gonad may include the stroma and granulosa/sertoli cells, which produce androgens, virilization can seen in girls with Y-chromosomal material. Prophylactic gonadectomy may therefore be required for optimal management in such patients. Our aim is to discuss our observations in the follow-up of TS patients. MethodsSRY was investigated in 71 out of 85 TS cases (aged 3 months-27 years) between 2005 and 2017. Fluorescent in situ hybridization (FISH) was used until 2014, after which SRY analysis was performed using the polymerase chain reaction (PCR) method. SRY analysis was performed a second time using PCR in 25 cases previously investigated with FISH. ResultsWe identified no positive cases. No pathological findings in terms of virilization, clitoromegaly, or posterior labial adhesions were also determined in our TS cases. Further studies were not required since no pathological findings also were detected at ultrasonography. ConclusionIf Y-chromosome material has not been detected by conventional cytogenetic methods in TS patients with masculine features, further techniques should be applied to prevent the risk of invasive tumors, such as multiple sequences beside the Y centromere. This approach will prevent overtreatment.

The Hormone of Growth and Hope. The Case of Turner Syndrome

The Hormone of Growth and Hope. The Case of Turner Syndrome