Síndrome de Turner: del nacimiento a la edad adulta

Orbañanos, Isabel Ríos; Desojo, Amaia Vela; Martínez-Indart, Lorea; Bolado, Gema Grau; Estévez, Amaya Rodríguez; Echevarría, Itxaso Rica

doi:10.1016/j.endonu.2015.06.010

Cited by 14 publications

(4 citation statements)

References 25 publications

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“…Since early diagnosis of DSD is considered important ( 7 , 25 , 26 ), the efficacy of the diagnostic procedures of most frequent patient groups merits evaluation. The mean age at diagnosis of TS patients in our series was 4.7 years, a result similar to the findings reported from the United States and Spain ( 26 , 27 ). A quarter of our TS patients was diagnosed prenatally, based on the voluntary, combined first trimester screening (a nuchal translucency scan and maternal serum screening followed by a prenatal chromosome test, if necessary).…”

Section: Discussionsupporting

confidence: 91%

“…A quarter of our TS patients was diagnosed prenatally, based on the voluntary, combined first trimester screening (a nuchal translucency scan and maternal serum screening followed by a prenatal chromosome test, if necessary). After birth, the most frequent symptom guiding to diagnosis was short stature (41%), the leading clinical cue also in other studies ( 26 , 27 ). The diagnosis of KS patients in our series was even further delayed, and the diagnosis was typically suspected during childhood due to developmental problems, and during adolescence due to small testicular size.…”

Section: Discussionsupporting

confidence: 58%

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Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Kohva

Miettinen

Taskinen

et al. 2018

Endocrine Connections

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BackgroundWe describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.MethodsDSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts.ResultsAmong the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001).ConclusionsOur results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients’ adulthood semen quality and (iii) next-generation sequencing methods are not fully employed in the diagnostics of DSD patients.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 58%

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Kohva

Miettinen

Taskinen

et al. 2018

Endocrine Connections

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“…In the current work, the values for ulna valgus were 57.9% and 78% for ogival palate, contributing to the perception of the great variability observed in the literature, which may be associated with factors such as underdiagnosis and a greater tendency to refer patients with more dysmorphisms. Despite this wide variation, the majority of studies report the presence of the same characteristics in the population studied with TS (20)(21)(22)(23).…”

Section: Discussionmentioning

confidence: 99%

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

Soares¹,

Lago²,

Toralles³

et al. 2021

Archives of Endocrinology and Metabolism

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Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and 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. Conclusions: 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.

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“…Individuals with TS exhibit a set of phenotypic features, including short stature and gonadal dysgenesis. Other clinical conditions, such as osteoporosis, dyslipidemia, obesity and congenital malformations are also observed (Ostberg et al , 2005; Carvalho et al , 2010; Bispo et al , 2013; Ríos Orbañanos et al , 2015).…”

Section: Introductionmentioning

confidence: 99%

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

Santos

Bispo²,

Barros

et al. 2018

Genet. Mol. Biol.

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Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In addition, an association between the CTLA-4 G/G genotype and obesity was detected in TS patients (p=0.02, OR=6.04). Regarding, the -550(H/L) polymorphism in the MBL2 promoter, the frequency of the H/L genotype was significantly higher in the TS group than healthy controls (p=0.01, OR=1.96). The H/H genotype indicated a protective effect in TS patients (p=0.01, OR=0.23). No differences were observed in the distribution of -221(X/Y), MBL2 exon 1 variants, and PTPN22 +1858G/A in any assessed groups. CTLA-4 variants are potentially involved in obesity in this cohort of TS patients from northeastern Brazil.

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Síndrome de Turner: del nacimiento a la edad adulta

Cited by 14 publications

References 25 publications

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

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