Otological and hearing characteristics in children with Turner syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the otological and hearing characteristics in children with Turner syndrome (TS), to determine risk factors of hearing loss, and to discuss algorithms for future surveillance. Methods: The clinical data of otolaryngology in children with TS from January 2018 to April 2020 were reviewed retrospectively. A total of 46 female children with TS, aged from 5 to 18 years were enrolled. Karyotypes included 17 cases (37.0%) of monosomy, 16 cases (34.7%) of mosaicism, and 13 cases (28.3%) of abnormal X chromosome structures. The otoscopic characteristics, audiological performance, and otologic diagnoses were evaluated. Multivariate logistic regression and Mann-Whitney U test were used for statistical analysis. Results: The most common otologic comorbidity was otitis media with effusion (OME), including 20 cases (43.5%) with 33 ears (35.9%). 14 cases (30.4%) were diagnosed with hearing loss. The regression analysis revealed that the age (OR=1.345, 95%CI: 1.072-1.760) and comorbidity of OME (OR=9.460, 95%CI: 2.065-60.350) were risk factors associated with hearing loss. In TS with OME, when compared with the mean air conduction threshold, the hearing loss of the group with pars flaccida retractions was significantly higher ((24.3±13.8) dB HL vs. (14.4±4.2) dB HL, U=59.500, P=0.008) than that of the group with none retractions. Conclusion: OME and hearing loss are common in children with TS. As age increases or suffers from OME, the risk of hearing loss increases.

Síndrome de Turner: nuestra experiencia en la creación del Registro Institucional y de la Unidad Interdisciplinaria en el Hospital Italiano de Buenos Aires: un primer paso para el mejor seguimiento / Turner syndrome: our experience in the creation of the Registry Institutional and Interdisciplinary Unit at the Italian Hospital of Buenos Aires: a first step to the best follow-up

El síndrome de Turner (ST) resulta de la ausencia completa o parcial del segundo cromosoma sexual en fenotipos femeninos. Tiene una incidencia de 1:2000- 2500 nacidas vivas. Recién en la última década se ha puesto atención a la salud de las adultas con ST. La mortalidad es 3 veces superior respecto de la población general debido al riesgo de disección aórtica por anomalías cardiovasculares estructurales y aterosclerosis vinculada a hipertensión arterial, diabetes, dislipidemia y obesidad. También presentan elevada prevalencia de enfermedades autoinmunitarias. Objetivo: evaluar la calidad del seguimiento clínico de pacientes adultas con ST, comparando los controles de salud preconformación y posconformación del Registro y de la Unidad Interdisciplinaria. En el año 2017 fuimos convocados para integrar el Programa de Enfermedades Raras del Hospital Italiano de Buenos Aires. A partir de la creación del Registro Institucional y del equipo multidisciplinario obtuvimos mejoría significativa en los controles por las especialidades de cardiología, endocrinología y otorrinolaringología, en los controles bioquímicos del metabolismo lipídico, hidrocarbonado, hepatograma, TSH y anticuerpos para celiaquía e imágenes cardiovasculares y densitometría ósea. En conclusión, el seguimiento sistematizado e institucional, mediante el Registro y la creación de la Unidad Interdisciplinaria de Síndrome de Turner, permitió encontrar las falencias del sistema de atención y optimizar el seguimiento de esta población. (AU)

Turner syndrome (TS) results from the complete or partial absence of the second sex chromosome in female phenotypes. It has an incidence of 1: 2000-2500 girls born alive. Only in the last decade has been paid attention to the health of adults women with TS. Mortality is 3 times higher than in the general population due to the risk of aortic dissection cause to structural cardiovascular anomalies and atherosclerosis related to hypertension, diabetes, dyslipidemia and obesity. They also have a high prevalence of autoimmune diseases. Until nowadays in Argentina do not exist a national registry of this disease that complies with the international follow-up recommendations for these patients. We proposed to develop the institutional register at 2014 and a multidisciplinary team was created to care and follow up girls and women with TS during 2015. It was indexed to Italian Hospital of Buenos Aires' Rare Diseases Program since 2017. After the creation of the institutional registry and the multidisciplinary team we obtained a significant improvement in cardiology, endocrinology and otorhinolaryngology schedule visits, in lipids and hydrocarbon metabolism, liver, thyroid and celiac diseases biochemical controls and in the performance of cardiovascular MNR and bone densitometry. In conclusion, the systematized and institutional follow-up, through the registry and the creation of the Interdisciplinary Unit of Turner Syndrome, allowed us to find the flaws of the care system and to optimize the follow up of this population. (AU)

Body composition in Egyptian Turner syndrome girls.

OBJECTIVE: This cross-sectional study was undertaken to construct the new body fat % curve and provide body composition reference data for adolescent girls with Turner syndrome (TS). They diagnosed cytogenetically by blood karyotyping and not treated with growth hormone (GH). MATERIALS AND METHODS: The study included 70 TS girls from age 13 years to age 17 years. Body composition was measured by bioelectrical impedance. Smoothed centile charts were derived by using the least mean square (LMS) method. RESULTS: The new body fat curves reflect the increase of body fat mass (FM) from age 13 years to age 17 years. Body FM % of Egyptian TS girls was lower when compared with age-matched American untreated TS girls. CONCLUSION: This study presents the new body fat curves and reference values of body composition for untreated Egyptian TS adolescent girls. The present charts can be used for direct assessment of body FM % for Egyptian TS girls and evaluation for cases on GH treatment or other growth promoting therapy.

El síndrome de turner en la edad adulta / Turner syndrome in adulthood

El síndrome de Turner (ST) es la anomalía cromosómica más frecuente en mujeres, con una prevalencia de hasta 1/2500 nacidas vivas. El ST es el resultado de la pérdida o anormalidad del segundo cromosoma sexual en, al menos, una línea celular. Estas anomalías estructurales pueden presentarse en estado puro, entre las cuales la monosomía completa 45X0 es la más frecuente...

Bone age is the best predictor of growth response to recombinant human growth hormone in Turner’s syndrome.

BACKGROUND AND OBJECTIVES: Recombinant human growth hormone (rhGH) is approved for use in children with Turner’s syndrome (TS) in most industrialized countries and is recommended in the recently issued guidelines. We determined the growth responses of girls who are treated with rhGH for TS, with an aim to identify the predictors of growth response. MATERIALS AND METHODS: Fifty-six prepubertal girls with TS, documented by peripheral blood karyotype, were enrolled. All the patients received biosynthetic growth hormone therapy with a standard dose of 30 IU/m2/week. The calculated dose per week was divided for 6 days and given subcutaneously at night. RESULTS: This study showed that rhGH therapy provides satisfactory auxological results. Bone age delay is to be considered as a predictive factor which may negatively influence the effect of rhGH therapy on final height. The growth velocity in the preceding year is the most important predictor of rhGH therapy response. CONCLUSION: These observations help us to guide rhGH prescription, to reduce the risks and costs.

Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex.

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.

Epidemiological, endocrine and metabolic features in Turner syndrome

A síndrome de Turner, decorrente de anomalias dos cromossomos sexuais, é uma das doenças genéticas mais comuns, ocorrendo em cerca de 50:100.000 recém-nascidas. A síndrome de Turner está geralmente associada à baixa estatura, disgenesia gonadal e, portanto, níveis insuficientes de esteróides sexuais femininos, e esterilidade. Vários outros sinais e sintomas são observados mais freqüentemente em portadoras dessa síndrome. Há aumento da morbidade e da mortalidade. A performance intelectual costuma estar dentro da normalidade. Estudos recentes têm trazido novas informações quanto a seus aspectos epidemiológicos, cardiológicos, endócrinos e metabólicos. O tratamento com hGH na infância e na adolescência permite um ganho considerável na estatura final. A puberdade precisa ser induzida na maioria dos casos, e a terapia de reposição de hormônios sexuais femininos (TRH) persiste durante toda a vida adulta. As doses adequadas para TRH ainda não estão bem estabelecidas; do mesmo modo, seus benefícios e/ou desvantagens ainda não foram cuidadosamente avaliados. Uma vez que o risco de doenças cardiovasculares e endócrinas é claramente elevado, o cuidado adequado na vida adulta é enfatizado. Em síntese, a síndrome de Turner é uma afecção associada a diversas anomalias congênitas e adquiridas que são revisadas neste artigo.

Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile. Período 1990-2001 / Prevalence of chromosomal aberrations at birth in the Clinical Hospital of Universidad de Chile, 1990-2001

BACKGROUND: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. AIM: To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS AND METHODS: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. RESULTS: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3 per cent). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1 per cent died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. CONCLUSIONS: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.

Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases

A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases.

Síndrome de Turner: estado actual / Turner's syndrome: update

An up to date discusion concerning the Turner's syndrome is done in the present article

Human cytogenetical case report of Turner's syndrome. Report-I.

A case of typical Turner's syndrome with short stature, broad chest with widely spaced nipple, prominent carrying angle, short metacarpels and absence of secondary sex characters is reported. The cytological observation showed sex chromatin negative and 45, XO chromosomal constitution.