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Journal of Cardiovascular Development... Oct 2021Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian... (Review)
Review
Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.
PubMed: 34821691
DOI: 10.3390/jcdd8110138 -
Archives of Endocrinology and Metabolism Nov 2021To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
OBJECTIVE
To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
METHODS
FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data.
RESULTS
Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings.
CONCLUSION
FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.
Topics: Body Height; Chromosomes; Female; Humans; Mosaicism; Polymerase Chain Reaction; Turner Syndrome
PubMed: 34762780
DOI: 10.20945/2359-3997000000403 -
Cureus Jul 2021Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in...
Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. TS was diagnosed by the chromosomal analysis, which demonstrated a gene karyotype of 46.X,i(X)(q10){20}.
PubMed: 34513364
DOI: 10.7759/cureus.16733 -
Industrial Psychiatry Journal 2020Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include...
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed neck, and low set ears. About 10% of the subjects have auditory defects due to sensorineural hearing loss. The patient also has short stature, chest deformity (superior pectus carinatum and inferior pectus excavatum), widely spaced nipples, and delayed puberty. A rare psychiatric manifestation of somnambulism and somniloquy in a case of Noonan syndrome is reported.
PubMed: 34158723
DOI: 10.4103/ipj.ipj_84_19 -
Journal of Craniovertebral Junction &... 2021We present a report of two patients having the association of omovertebra, Sprengel's deformity of the shoulder and Klippel-Feil abnormality with craniovertebral...
We present a report of two patients having the association of omovertebra, Sprengel's deformity of the shoulder and Klippel-Feil abnormality with craniovertebral junctional instability. Our literature survey did not locate any report of such association. Significance of bone alterations is analyzed. Two young patients presented with neck pain, torticollis, webbed neck, and spastic quadriparesis. In both patients, the investigations revealed basilar invagination, Klippel-Feil abnormality and Sprengel's deformity of the shoulder. Apart from these relatively common associations, both the patients had omovertebral bone that extended from the transverse process of C5 vertebra to scapula. Following atlantoaxial stabilization surgery, the patients rapidly recovered from all symptoms. Musculoskeletal abnormalities at the craniovertebral junction that include Klippel-Feil abnormality, Sprengel's shoulder, and omovertebra are secondary alterations to primary atlantoaxial instability.
PubMed: 33850390
DOI: 10.4103/jcvjs.JCVJS_7_21 -
Cureus Nov 2020Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically,...
Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically, patients with Turner syndrome exhibit no intellectual disability, and a few cases of TS have been associated with epilepsy. Herein, we present a case of TS with intractable epilepsy. The patient presented with global developmental delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as several focal-onset seizures. She developed daily seizures, which were refractory to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital at the age of 13. Her peripheral white blood cells G-band and fluorescence in situ hybridization (FISH) method chromosome with cheek swab examinations revealed 45, X. Her peripheral white blood cell mosaic pattern may have disappeared over time or become indetectable. We treated her with clobazam, and then lamotrigine and valproic acid combination therapy, which resulted in a reduction in the frequency of seizures by approximately 50%. Epilepsy and intellectual disability in this case may be due to the mosaic deletion at Xq21.1. Further analysis of similar cases may provide valuable information for effective therapeutic strategies.
PubMed: 33304697
DOI: 10.7759/cureus.11364 -
Balkan Journal of Medical Genetics :... Jun 2020A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester...
A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.
PubMed: 32953417
DOI: 10.2478/bjmg-2020-0014 -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120 -
Molecular Genetics & Genomic Medicine Apr 2020Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and...
BACKGROUND
Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuropsychological and behavioral studies explored alteration of cognitive functioning and related domains, such as learning, memory, and attention. To our knowledge, however, data concerning the language profile in this disorder is scarce. The aim of the present study was to detect specific language functioning combining nonverbal intelligence quotient and language abilities and to pinpoint strengths and weaknesses in the language domains.
METHODS
The language profile of 37 Italian participants with molecularly confirmed diagnosis of Noonan Syndrome was evaluated using specific tools to assess vocabulary and grammar comprehension and production, as well as phonological development.
RESULTS
We observed that 78% of affected individuals exhibited language impairment. Within language domains, the strong area was lexical production and grammar production was the weak area. Almost half the participants manifested a similar trend of specific language impairment. Nonverbal intelligence quotient only correlated with grammar comprehension.
CONCLUSION
Our study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention.
Topics: Adolescent; Child; Child, Preschool; Comprehension; Female; Humans; Intelligence Tests; Language Development Disorders; Language Tests; Male; Noonan Syndrome; Protein Tyrosine Phosphatase, Non-Receptor Type 11
PubMed: 32059087
DOI: 10.1002/mgg3.1069 -
International Journal of Environmental... Oct 2019Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not...
Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.
Topics: Adolescent; Adult; Child; Female; Humans; Middle Aged; Touch; Touch Perception; Turner Syndrome; Young Adult
PubMed: 31614840
DOI: 10.3390/ijerph16203870