scholarly journals A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Dev R. Sahni ◽  
Michael Wallace ◽  
Mansi Kanhere ◽  
Hind Al Saif ◽  
Natario Couser
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Anterior Segment ◽  
Clinical Manifestations ◽  
Morning Glory ◽  
Structural Abnormality ◽  
Partial Loss ◽  
Rare Presentation ◽  
Morning Glory Disc Anomaly ◽  
Chromosome Disorder

Turner syndrome is a common sex chromosome disorder affecting females. The disorder is caused by a partial loss, complete absence, or structural abnormality of one X chromosome. The clinical presentation is broad and ranges from the classic phenotype to minimal clinical manifestations. Ocular abnormalities associated with the syndrome are common. Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and ptosis. Posterior ocular segment anomalies involving the optic nerve and retina in Turner syndrome have been rarely reported. We report a rare presentation of an 11-year-old female with Turner syndrome and unilateral morning glory disc anomaly.

scholarly journals A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

2021 ◽  
Vol 10 (4) ◽  
pp. 177-179
Author(s):  
Hamid Reza Samimagham ◽  
Mitra Kazemi Jahromi
Keyword(s):  
Turner Syndrome ◽  
Rare Variant ◽  
Rare Variants ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Chromosome Anomaly ◽  
Primary Amenorrhea ◽  
Hypergonadotropic Hypogonadism ◽  
Case Presentation ◽  
Genetic Problem

Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner 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 Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Hanane Latrech ◽  
Houssein Madar ◽  
Ahmed Gaouzi
Keyword(s):  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Clinical Presentation ◽  
Sex Chromosome ◽  
De Novo ◽  
First Case ◽  
Chromosome Disorder ◽  
De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

scholarly journals Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

2019 ◽  
Vol 8 (11) ◽  
pp. 1483-1492
Author(s):  
Elin Kahlert ◽  
Martina Blaschke ◽  
Knut Brockmann ◽  
Clemens Freiberg ◽  
Onno E Janssen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Medical Management ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Adult Care ◽  
Multicenter Observational Study ◽  
Healthcare Data ◽  
Second Sex ◽  
Wide Range

Objective Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany. Design Retrospective multicenter observational study. Methods Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany. Results Mean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%). Conclusion In 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.

A rare case of unilateral morning glory disc anomaly in a patient with turner syndrome

2019 ◽  
Vol 11 (2) ◽  
pp. 59
Author(s):  
Abdi Rhizlane ◽  
Siham Chariba ◽  
Maadan Asmae ◽  
Sekhsoukh Rachid
Keyword(s):  
Turner Syndrome ◽  
Rare Case ◽  
Morning Glory ◽  
Morning Glory Disc Anomaly

scholarly journals Case Report: Fibroglial Retinal Tissue in Contractile Morning Glory Disc Anomaly

2021 ◽  
pp. 525-530
Author(s):  
Abel Ramirez-Estudillo ◽  
Karla Torres-Navarro ◽  
Sergio Rojas-Juárez ◽  
Ximena Ramirez-Galicia ◽  
Berenice Palafox-Cornejo ◽  
...  
Keyword(s):  
Structural Changes ◽  
Retinal Pigment ◽  
Anterior Segment ◽  
Posterior Pole ◽  
Retinal Pigment Epithelial Cells ◽  
Morning Glory ◽  
Retinal Tissue ◽  
Morning Glory Disc Anomaly ◽  
History Of ◽  
Pars Plana

The purpose of the present case is to describe a patient with tractional retinal detachment (RD) associated with contractile morning glory: a 17-year-old female, with a history of failed surgery for RD when she was 2 years old in her right eye (OD), nystagmus, and a limited visual acuity in the left eye (OS). The slit lamp examination showed phthisis bulbi in OD and the anterior segment was unremarkable in OS. Dilated fundus examination revealed a tractional RD in the posterior pole and peripapillary and preretinal fibrosis without evidence of intravitreal dispersion of retinal pigment epithelial cells. After surgery treatment, the RD resolved and the posterior segment showed a staphylomatous excavation around the optic disc anomaly with irregular contractions that folded the macular area. This were unrelated to light, breathing, or eye movements. Although morning glory disc anomaly is associated with RD, the early diagnosis can reverse structural changes. In this case, the rare association with contractile movements was found posterior to the pars plana vitrectomy after all the fibroglial epiretinal tissue was removed.

scholarly journals A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

2021 ◽  
Author(s):  
Marco Pavanello ◽  
Pietro Fiaschi ◽  
Andrea Accogli ◽  
Mariasavina Severino ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Surgical Management ◽  
Missense Variant ◽  
Morning Glory ◽  
Morning Glory Disc Anomaly ◽  
Long Term Follow Up ◽  
Indirect Revascularization ◽  
Peripapillary Retina

AbstractMorning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

scholarly journals Case of peripheral fibrovascular proliferative retinopathy associated with morning glory disc anomaly

2021 ◽  
Vol 22 ◽  
pp. 101029
Author(s):  
Tomoka Ishida ◽  
Ryuki Fukumoto ◽  
Yoshihiro Wakabayashi ◽  
Yuji Itoh ◽  
Makoto Inoue ◽  
...  
Keyword(s):  
Proliferative Retinopathy ◽  
Morning Glory ◽  
Morning Glory Disc Anomaly

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Sign in / Sign up

Export Citation Format

Share Document