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

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner 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 presentation A 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. Conclusion The 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.

scholarly journals Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Paola E. Leone ◽  
Verónica Yumiceba ◽  
Ariana Jijón-Vergara ◽  
Andy Pérez-Villa ◽  
Isaac Armendáriz-Castillo ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Genomic Analysis ◽  
Common Finding ◽  
Mild Intellectual Disability ◽  
First Case ◽  
Conventional Cytogenetics

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

scholarly journals Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

2021 ◽  
Vol 10 (21) ◽  
pp. 5076
Author(s):  
Jakub Kasprzyk ◽  
Marcin Włodarczyk ◽  
Aleksandra Sobolewska-Włodarczyk ◽  
Katarzyna Wieczorek-Szukała ◽  
Renata Stawerska ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Growth Hormone Therapy ◽  
Marker Chromosome ◽  
Height Velocity ◽  
First Year ◽  
Rhgh Therapy ◽  
Different Types ◽  
Second Year

Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X monosomy (n = 35), isochromosome (n = 11), marker chromosome (n = 5), or X-mosaicism (n = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the therapy. In the second year, HV deteriorated significantly in X-monosomy and isochromosome in comparison to the remaining two groups (p = 0.0007). After 3 years of therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with marker chromosome and X-mosaicism (p = 0.0072). X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. The results of the study indicate that the effects of rhGH therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.

Cognitive and Behavioral Manifestations in Turner Syndrome

2010 ◽  
Author(s):  
Aysenil Belger ◽  
Sarah J. Hart
Keyword(s):  
Turner Syndrome ◽  
Health Care Providers ◽  
X Chromosome ◽  
Behavioral Problems ◽  
Structural Changes ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Expression Of Genes ◽  
Recessive Genes

Turner Syndrome (TS) is a common genetic disorder that affects approximately 1 in 1,900 live female births. Like other sex chromosome abnormalities (SCAs), TS has high morbidity due to associated congenital abnormalities, neurodevelopmental disturbances, neurocognitive deficits, and social-behavioral problems. Many individuals with TS are not diagnosed. Those who are identified may be subject to inadequate care, bias, and discrimination because of a poor understanding of the condition among families, health care providers, and educators, especially regarding developmental profiles and outcomes. Turner syndrome results from an abnormal or missing second sex (i.e., X) chromosome, and by definition, affects only females. There is tremendous variability in the clinical presentations of individuals with TS that is likely due to the variable nature of the genetic abnormality. Approximately 50% of girls with TS have a 45X karyotype (Savendahl and Davenport 2000; Soriano-Guillen et al. 2005; Sybert and McCauley 2004), with the remainder having either a structural abnormality or mosaicism involving the X chromosome. Structural changes of the X chromosome include deletions, breakage of both arms to form a ring chromosome, or breakage and exchange in the X centromere region to form an isochromosome. Common mosaic patterns include 45,X/46,XX, 45,X/46,X,i(X), and 45, X/46,XY (Table 19.1). Correlations of clinical phenotype with cytogenetic data are further complicated by the wide range of structural abnormalities, as well as by mosaicism, differences in X-inactivation patterns, and the presence of abnormal recessive genes (Ogata and Matsuo 1995). Girls with 45X karyotype tend to be most severely affected, and there is less variability within this group than in the population as a whole. Many of the clinical manifestations of TS can be understood in the context of reduced expression of genes on the X chromosome (Neely 1994; Zinn and Ross 1998; Zinn et al. 1998). In normal females, one X chromosome is inactivated; however, the process is not complete. Genes on the X-chromosome that are not inactivated, so-called pseudoautosomal genes, are present in a cluster near the tip of the short arm and scattered elsewhere.

scholarly journals A Rare Variant of Turner Syndrome With Isodicentric X Chromosome Resulting in Trisomy: A Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A695-A696
Author(s):  
Jacqueline T Chan ◽  
Ma Cristine C Cabanas
Keyword(s):  
Short Stature ◽  
Cell Line ◽  
Turner Syndrome ◽  
Cell Lines ◽  
X Chromosome ◽  
Tissue Transglutaminase ◽  
Genetic Disorder ◽  
Delayed Puberty ◽  
Thyroid Peroxidase ◽  
Abnormal Cell

Abstract Introduction: Turner syndrome is a genetic disorder caused by the loss of an X-chromosome affecting approximately 1 in every 2,500 females. A constitutional karyotype of 45, X accounts for nearly 50% of patients, while mosaicism and other chromosomal structural abnormalities such as deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported. Isodicentric X chromosomes are formed presumably by end-to-end fusion of chromatids after a break, with subsequent loss of an acentric fragment. These chromosomes in general have phenotypes characteristic of the resultant X deletions. We present a case of a 14-year-old female diagnosed with Turner syndrome and with 2 abnormal cell lines. Case Presentation: This is a case of a 14-year-old female referred to pediatric endocrinology for concerns of short stature and delayed puberty. She denied any food intolerance, bloating and diarrhea. She is otherwise healthy with unremarkable past medical history. Her weight was normal at 15th percentile. Her height was 137cm or 0.01 percentile with a Z score of –3.6. Work up revealed hypothyroidism with TSH 16.3 mcIU/mL (0.4-4.7 mcIU/mL), positive thyroid peroxidase antibody >900 IU/ml and thyroglobulin antibody 14 IU/mL (< 1.8IUm/mL) and celiac disease (tissue transglutaminase IgA > 100 U/mL) both without associated symptoms. Estradiol level was undetectable, and LH and FSH were 9.89 mIU/ml and 52.69 mIU/ml respectively. The rest of her labs including growth factors were normal. Bone age was normal at 13 years for chronological age of 14 years old. Chromosomal microarray revealed 2 abnormal cell lines: one with monosomy X, the other with a normal X chromosome and an isodicentric X chromosome involving the Xp11.22-q28 region resulting in trisomy of the latter cell line. Levothyroxine was started. Plan is to start growth hormone therapy and initiate puberty after. Patient referred to necessary subspecialties for hearing evaluation as well as cardiac evaluation Conclusion Turner syndrome usually presents as females with short stature, gonadal dysgenesis and 45,X cell line that is either singly or in combination with another mosaic cell line. Our patient presented with short stature and absence of puberty. Initial investigation revealed hypothyroidism and highly positive celiac antibodies, but unable to attribute her short stature to both diagnoses given the lack of other symptoms. This case emphasizes the importance of checking the karyotype in females presenting with short stature and more importantly delayed puberty as part of the diagnostic algorithm. In addition, checking thyroid and celiac panel are also imperative as treatment of these are treatable etiologies of short stature.

scholarly journals X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

2016 ◽  
Vol 174 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Elodie Fiot ◽  
Delphine Zenaty ◽  
Priscilla Boizeau ◽  
Jeremy Haigneré ◽  
Sophie Dos Santos ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Multiple Testing ◽  
Adult Height ◽  
Gene Dosage ◽  
Postnatal Growth ◽  
Target Height ◽  
Anthropometric Parameters ◽  
Gh Treatment ◽  
Chromosome Gene

ObjectiveShort stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment.DesignWe conducted a national observational multicenter study.MethodsBirth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%).ResultsBirth weight, length (P<0.0001), and head circumference (P<0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3–11.8) years and after adjustment for age and correction for multiple testing (P<0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0–21.8) years and with additional adjustment for dose and duration of GH treatment (P=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome.ConclusionThese data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy.

scholarly journals Dental anomalies of a child with incontinentia pigmenti: Case report

2021 ◽  
Vol 10 (9) ◽  
pp. e50310917482
Author(s):  
Wanessa Fernandes Matias Regis ◽  
Beatriz Gonçalves Neves ◽  
Ramille Araújo Lima ◽  
Francisco Ruliglésio Rocha ◽  
Lidiany Karla Azevedo Rodrigues
Keyword(s):  
Case Report ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Incontinentia Pigmenti ◽  
Dental Anomalies ◽  
Tooth Abnormalities ◽  
Keywords Child

Incontinentia Pigmenti is a rare multi-system dominant genetic disorder caused by a mutation of the IKBKG/NEMO gene, localized on the X-chromosome, locus Xq28, characterized by dermatological, ocular, neurological, and dental alterations. This case report shows Incontinentia Pigmenti dental findings and emphasizes the importance of the dentist's knowledge about these anomalies so that the patient can be regularly monitored throughout the development of the dentition. Keywords: Child, Incontinentia Pigmenti, Tooth Abnormalities.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

Odontoid cervical gout causing atlantoaxial instability: case report

2019 ◽  
Vol 30 (4) ◽  
pp. 541-544
Author(s):  
Justin Slavin ◽  
Marcello DiStasio ◽  
Paul F. Dellaripa ◽  
Michael Groff
Keyword(s):  
Rheumatoid Arthritis ◽  
Spinal Cord ◽  
Case Report ◽  
Physical Examination ◽  
Odontoid Process ◽  
Signs And Symptoms ◽  
Cord Compression ◽  
Atlantoaxial Instability ◽  
Posterior Stabilization ◽  
Rotatory Subluxation

The authors present a case report of a patient discovered to have a rotatory subluxation of the C1–2 joint and a large retroodontoid pannus with an enhancing lesion in the odontoid process eventually proving to be caused by gout. This patient represented a diagnostic conundrum as she had known prior diagnoses of not only gout but also sarcoidosis and possible rheumatoid arthritis, and was in the demographic range where concern for an oncological process cannot fully be ruled out. Because she presented with signs and symptoms of atlantoaxial instability, she required posterior stabilization to reduce the rotatory subluxation and to stabilize the C1–2 instability. However, despite the presence of a large retroodontoid pannus, she had no evidence of spinal cord compression on physical examination or imaging and did not require an anterior procedure to decompress the pannus. To confirm the diagnosis but avoid additional procedures and morbidity, the authors proceeded with the fusion as well as a posterior biopsy to the retroodontoid pannus and confirmed a diagnosis of gout.

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