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Objective: To study the impact of GH dose and age at GH start in girls with Turner syndrome (TS), aiming for normal height and age at pubertal onset (PO) and at adult height (AH). However, age at diagnosis will limit treatment possibilities. Methods: National multicenter investigator-initiated studies (TNR 87-052-01 and TNR 88-072) in girls with TS, age 3-16 years at GH start during year 1987-1998, with AH in 2003-2011. Of the 144 prepubertal girls with TS, 132 girls were followed to AH (intention to treat), while 43 girls reduced dose or stopped treatment prematurely, making n=89 for Per Protocol population. Age at GH start was 3-9 years (young; n=79) or 9-16 years (old; n=53). Treatment given were recombinant human (rh)GH (Genotropin® Kabi Peptide Hormones, Sweden) 33 or 67 µg/kg/day, oral ethinyl-estradiol (2/3) or transdermal 17ß-estradiol (1/3), and, after age 11 years, mostly oxandrolone. Gain in heightSDS, AHSDS, and age at PO and at AH were evaluated. Results: At GH start, heightSDS was -2.8 (versus non-TS girls) for all subgroups and mean age for young was 5.7 years and that of old was 11.6 years. There was a clear dose-response in both young and old TS girls; the mean difference was (95%CI) 0.66 (-0.91 to -0.26) and 0.57 (-1.0 to -0.13), respectively. The prepubertal gainSDS (1.3-2.1) was partly lost during puberty (-0.4 to -2.1). Age/heightSDS at PO ranged from 13 years/-0.42 for GH67young to 15.2 years/-1.47 for GH33old. At AH, GH67old group became tallest (17.2 years; 159.9 cm; -1.27 SDS; total gainSDS, 1.55) compared to GH67young group being least delayed (16.1 years; 157.1 cm; -1.73 SDS; total, 1.08). The shortest was the GH33young group (17.3 years; 153.7 cm: -2.28 SDS; total gainSDS, 0.53), and the most delayed was the GH33old group, (18.5 years; 156.5 cm; -1.82 SDS; total gainSDS, 0.98). Conclusion: For both young and old TS girls, there was a GH-dose growth response, and for the young, there was less delayed age at PO and at AH. All four groups reached an AH within normal range, despite partly losing the prepubertal gain during puberty. Depending on age at diagnosis, low age at start with higher GH dose resulted in greater prepubertal height gain, permitting estrogen to start earlier at normal age and attaining normal AH at normal age, favoring physiological treatment and possibly also bone health, hearing, uterine growth and fertility, psychosocial wellbeing during adolescence, and the transition to adulthood.
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Hormônio do Crescimento Humano , Síndrome de Turner , Feminino , Adolescente , Humanos , Adulto , Pré-Escolar , Criança , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento/uso terapêutico , Síndrome de Turner/tratamento farmacológico , Suécia/epidemiologia , Estatura , Puberdade/fisiologia , Estradiol/uso terapêuticoRESUMO
OBJECTIVES: To study, longitudinally, the development of apical root resorptions (ARRs) in Turner syndrome (TS) and to correlate these to the karyotype and orthodontic treatment. MATERIALS AND METHODS: Thirty girls with TS participated in the study, mean age 10.8 years (6.6-23.4) at the first registration (T1), and 14.3 years (9.2-25.2) at the second registration (T2). Forty girls without TS, orthodontically untreated, served as controls. ARR was diagnosed in panoramic radiographs, and root/crown ratios of the lower permanent first molar were measured at T1 and T2 with a mean follow-up period of 42 (11-89) months. RESULTS: During the follow-up period, ARR was seen in 40% of all TS patients and in 2.5% in the control group. The majority displayed ARR on the distal root of the mandibular first permanent molars (30%). ARR at T2 was seen in 56% of 45,X and isochromosome karyotype and 21% of every other TS karyotype patients. AAR was seen in 5 out of 12 TS patients with orthodontic treatment. No statistically significant differences in root/crown ratios between T1 and T2 were found. LIMITATIONS: The number of patients studied is limited, thus possible differences might be disguised for this reason. Spatial projection errors in panoramic radiograph recordings might have influenced measurement, resulting in an underestimation of ARR. CONCLUSIONS: There is a higher risk for ARR in girls with TS and probably the risk is therefore probably also higher during orthodontic treatment. Thus, if treated, frequent radiographic follow-ups should be taken during the treatment. PROTOCOL: The protocol was not published before trial commencement.
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Reabsorção da Raiz , Síndrome de Turner , Criança , Feminino , Humanos , Estudos Longitudinais , Coroa do Dente , Raiz Dentária , Síndrome de Turner/complicações , Síndrome de Turner/genética , Adolescente , Adulto Jovem , AdultoRESUMO
BACKGROUND: The prevalence of disabling hearing loss is increasing worldwide. However, previous studies on hearing loss prevalence have enrolled small populations or only provided estimates. AIM: To establish the prevalence of severe-to-profound hearing loss (STPHL) in the adult Swedish population and compare it with the cochlear implantation rate in Sweden. MATERIAL AND METHODS: We established a database containing over 15 million audiograms obtained from regions covering > 99% of the Swedish population by extracting audiogram data from the computer software application, Auditbase. We used this database to calculate the percentage of adult patients with bilateral hearing levels ≥ 70 dB. We collected data regarding cochlear implantations in Sweden from the National Board of Welfare and Health. RESULTS: The prevalence of STPHL in the adult Swedish population was 0.28%. There were regional variations in the prevalence and rate of cochlear implantation; however, there was no association between both parameters. CONCLUSIONS: This study presents an updated and reliable prevalence figure for STPHL in Sweden. SIGNIFICANCE: Patients with STPHL have extensive rehabilitation requirements; accordingly, it is important to determine the accurate prevalence of STPHL to inform the allocation of adequate resources.
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Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Percepção da Fala , Adulto , Surdez/cirurgia , Perda Auditiva/epidemiologia , Perda Auditiva/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Humanos , Prevalência , Suécia/epidemiologia , Resultado do TratamentoRESUMO
Hearing and balance deteriorate, and fracture incidence increases with age, especially in women. The aim of the present study was to investigate whether impaired hearing and body balance are stronger predictors of fractures than bone mass. Between 1995 and 1997, 80 women, aged 50 to 70 years, with primary osteoporosis, taking menopausal hormone therapy, mainly for menopausal symptoms, participated in a double-blind, randomized, placebo-controlled study of treatment with growth hormone versus placebo. All women received calcium 750 mg and vitamin D 400 U daily. They were then examined yearly until 2007 and followed up by registers until 2020. Hearing was assessed by audiometry. Body balance and fine motor function were tested according to the Bruininks-Oseretsky test. Bone properties were measured with DXA. Data on fractures were derived from the Gothenburg Hospital register. Over the 25-year follow-up, 50 women (63%) sustained 104 fractures, most often related to accidental falls. Thoracic and lumbar spine fractures were most common (36%). Other fractures occurred in the pelvis (14%), humerus (14%), hip (11%), and wrist (10%). Hearing impairment at baseline, measured as pure tone average-high (p = 0.007), pure tone average-mid (p = 0.003), and speech-recognition score (p = 0.025), was associated with a subsequent first fracture, as were worse body balance (p = 0.004), upper limb coordination (p = 0.044), and higher running-speed agility (p = 0.012). After adjustment for age and BMD, pure tone average-high (p = 0.036), pure tone average-mid (p = 0.028), and body balance (p = 0.039) were still significantly associated with incident fractures. Bone mineral content, BMD, and treatment at baseline were not associated with subsequent fracture. In conclusion, hearing and body balance at baseline exceeded initial BMD in predicting incident fractures in osteoporotic women regardless of treatment during 25-year follow-up. © 2021 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
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Caloric irrigation (CI) is the gold standard to investigate peripheral vestibular dysfunction. The video head impulse test (vHIT) is faster and more accessible and may be useful during acute vertigo stroke risk differentiation. Comparative studies between the two methods are needed. The objective of this study was to compare vestibular function data derived from caloric irrigation with that from vHIT. This study included 80 patients with acute onset vertigo who underwent caloric irrigation and vHIT. CI derived sum of slow phase velocities (SPVs) and unilateral weakness (UW) were compared with vHIT vestibulo-ocular reflex (VOR) gain and gain asymmetry (GA) using correlation analyses. Optimal cut offs for vHIT VOR gain and GA were calculated using Youden indexes. There was a strong positive correlation between the asymmetry measures UW and GA whereas the correlation between the sum of SPVs and VOR gain was weaker. The optimal cut offs to diagnose unilateral vestibular weakness were 0.80 for VOR gain and 28% for GA; with specificities for predicting normal caloric irrigation results of 55% and 93%, respectively. In one third of cases the results from caloric irrigation and vHIT dissociated. The results from vHIT correlated with those from CI, still neither test seem to have the accuracy to replace the other. GA appears as an attractive measure in acute vertigo as the high specificity can be used to identify those with a substantial probability of normal vestibular function in need of more comprehensive work-up for central causes. To diagnose vestibular dysfunction, CI remains gold standard.
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STUDY QUESTION: Do women with Turner karyotype have increased mortality and morbidity in the years after childbirth? SUMMARY ANSWER: No mortality occurred during pregnancy and follow-up in women with Turner karyotype, but a higher rate of circulatory and endocrine diseases and a high risk of aortic aneurysm were confirmed. WHAT IS KNOWN ALREADY: Pregnancies in women with Turner karyotype are high-risk pregnancies with an increased risk of maternal mortality from aortic dissection and morbidity from hypertensive disorders. STUDY DESIGN, SIZE, DURATION: A retrospective Swedish population-based registry study of 124 women with Turner karyotype born between 1957 and 1987 and who gave birth between 1973 and 2010. Women with Turner karyotype without childbirth (n = 378) were selected as controls. A second control group consisted of women from the Swedish Medical Birth Register (MBR) (n = 1230) matched for maternal age, number of children and year of birth of the first child. PARTICIPANTS/MATERIALS, SETTING AND METHODS: Women with Turner karyotype were identified in the Swedish Genetic Turner Register. Data were obtained by using the unique personal identification number with cross linkage to the Swedish MBR, the Cause of Death Register, the National Patient Register and the Swedish Cancer Register. Hazard ratio (HR) with 95% confidence interval (CI) was used in the analysis of morbidity. MAIN RESULTS AND THE ROLE OF CHANCE: No mortality occurred in women with Turner karyotype and childbirth. Diseases of the circulatory system occurred more often in women with Turner syndrome under the age of 40 years compared with the MBR control group (HR 4.59; 95% CI 2.75-7.66) but was similar at or above the age of 40 years. Morbidity from circulatory diseases was increased before pregnancy (HR 3.83; 95% CI 1.02-14.43) and during pregnancy or within 1 year after (HR 5.78; 95% CI 1.94-17.24), but was similar after 1 or more years after delivery (HR 1.91; 95% CI 0.74-4.96). Aortic aneurysm occurred in 11/502 (2.2%) women with Turner karyotype and in three women (2.4%) during pregnancy. The long-term follow-up showed that aortic dissection was a common cause of death in young women with Turner karyotype without childbirth. A thorough cardiac evaluation before pregnancy in women with Turner karyotype is of utmost importance. LIMITATIONS, REASONS FOR CAUTION: Although this was a population-based registry study performed over a period of more than 20 years, a much longer follow-up and larger series are needed to assess rare events. The study also lacks information on phenotype and mode of conception in women with Turner karyotype. Women who gave birth probably represent a selection of healthier women with Turner karyotype. WIDER IMPLICATIONS OF THE FINDINGS: The high risk of aortic aneurysm in young women with Turner karyotype is in agreement with the literature.
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Parto , Período Pós-Parto , Síndrome de Turner/complicações , Adulto , Aneurisma Aórtico/complicações , Feminino , Seguimentos , Humanos , Hipertensão/complicações , Gravidez , Complicações na Gravidez/genética , Estudos Retrospectivos , Medição de Risco , Síndrome de Turner/genéticaRESUMO
The aim of this project was to study the impact from Turner syndrome (TS) karyotype and age on dental arch morphology and palatal height and to compare the variables in TS with reference data from non-TS females with normal occlusion. Plaster casts from 76 females with TS (6-50 years) were analysed with respect to dentoalveolar arch dimensions and palatal height. The TS females were divided into the karyotype categories: i) 45,X ii) 45,X/46,XX iii) isochromosome, and iv) other. The 45,X/46,XX karyotype exhibited fewer statistically significant variables differing from the reference group compared with other karyotypes. TS females showed increased dentoalveolar depths, decreased maxillary but increased mandibular width, decreased posterior segments, and decreased mandibular circumference compared with the reference group. In opposition to previous reports, the palatal height did not differ compared with non-TS females. Age had an impact on nine of the variables. We conclude that the present dental arch deviations are reflecting the high frequency of malocclusions reported in TS and the subsequent need for orthodontic treatment, which might possibly be lower in the 45,X/46,XX karyotype. The palatal height did not differ from the reference group, but instead the narrow maxilla might contribute to an illusion of a higher palate. We therefore suggest using the nomination 'narrow palatal vault' instead of the commonly used term 'high palatal vault'.
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Arco Dental/anormalidades , Palato Duro/anormalidades , Síndrome de Turner/patologia , Adolescente , Adulto , Fatores Etários , Criança , Técnica de Fundição Odontológica , Oclusão Dentária , Feminino , Humanos , Isocromossomos/genética , Cariótipo , Má Oclusão/genética , Má Oclusão/patologia , Mandíbula/anormalidades , Maxila/anormalidades , Pessoa de Meia-Idade , Síndrome de Turner/genética , Adulto JovemRESUMO
The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger.
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Ossos Faciais/anormalidades , Síndrome de Turner/genética , Síndrome de Turner/patologia , Adolescente , Adulto , Cefalometria , Criança , Pré-Escolar , Feminino , Humanos , Isocromossomos , Cariótipo , Mandíbula/anormalidades , Maxila/anormalidades , Monossomia/patologia , Retrognatismo/patologia , Base do Crânio/anormalidades , Adulto JovemRESUMO
AIM: To present data on body size, lifestyle and health status in students in their final year in high schools in Gothenburg area, Sweden, with specific attention to origin and gender. METHODS: Weight, height and waist circumference were measured by standardized procedures. Self-administered questionnaires described dietary habits, sleep, physical activity, body image, country of origin and general health. RESULTS: Eighty-six percent of participants, (2600 girls, 2714 boys, mean age 18.6 years) were of Nordic origin, 86% reported no chronic health problems and 14%/19% of girls/boys were overweight or obese. Girls consumed more vegetables and fruits and fewer sweet drinks than boys, while breakfast consumption was most common in Nordic groups. Boys reported more positive answers than girls regarding body image. Nordic girls had more negative body image and higher morbidity compared with other groups. CONCLUSION: Within this generally healthy cohort, boys were more likely to be overweight/obese than girls, although paradoxically boys were more satisfied with their appearance. Nordic girls constitute a group with particularly high risk of reporting low body self-esteem and chronic morbidity. In the longer term, the current cross-sectional data on body size, lifestyle and health will provide important baseline information for future follow-up studies of health outcomes in later life.
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Tamanho Corporal , Estilo de Vida , População Urbana/estatística & dados numéricos , Adolescente , Estatura , Imagem Corporal , Peso Corporal , Exercício Físico , Comportamento Alimentar , Feminino , Nível de Saúde , Humanos , Masculino , Autoimagem , Sono , Suécia , Circunferência da Cintura , Adulto JovemRESUMO
BACKGROUND: Tinnitus occurs with or without prior noise exposure (noise-induced tinnitus (NIT) and spontaneous tinnitus (ST)), and is considered a symptom related to permanent hearing impairment (HI) or temporary hearing threshold shift (TTS). OBJECTIVE: To carry out a cross-sectional interview study on TTS, ST and NIT during a standard audiometric screening of 756 7-year-old children in Gothenburg. RESULTS: 41% out of 756 children reported either NIT or ST on several occasions, 17% reported recurrent TTS and 7% failed the audiometry screening. The probability of ST was 27% for children with no HI or TTS (OR=1.23 (95% CI 1.12 to 1.34)) but 63% (OR=1.16 (95% CI 1.02 to 1.33)) if exhibiting both HI and TTS. CONCLUSION: This study confirms an increased occurrence of spontaneous tinnitus in children with TTS or HI and in children with both TTS and HI, in particular, but also in children with normal hearing. Possibly, tinnitus in young children correlates with stress as in adolescents and adults.
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Perda Auditiva/epidemiologia , Zumbido/epidemiologia , Audiometria , Limiar Auditivo , Criança , Estudos Transversais , Feminino , Perda Auditiva/complicações , Humanos , Masculino , Ruído/efeitos adversos , Prevalência , Recidiva , Suécia/epidemiologia , Zumbido/etiologiaRESUMO
OBJECTIVES: To evaluate the influence of noise and stress on the probability of tinnitus in the general population. DESIGN: Questionnaire data were obtained from 12,166 subjects. RESULTS: Each year of age increased the odds ratio of tinnitus by about 3%. Men generally showed a higher risk for tinnitus compared with women. Exposure to noise and stress emerged important for the probability of tinnitus. However, for the transition from mild to severe tinnitus, stress turned out to be especially important. CONCLUSIONS: Stress management strategies should be included in hearing conservation programs, especially for individuals with mild tinnitus who report a high stress load.
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Inquéritos Epidemiológicos , Ruído/efeitos adversos , Estresse Psicológico/epidemiologia , Zumbido/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Saúde Pública , Sistema de Registros/estatística & dados numéricos , Fatores de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Inquéritos e Questionários , Suécia/epidemiologia , Adulto JovemRESUMO
CONTEXT: GH and/or oxandrolone are used to promote growth in Turner syndrome (TS). OBJECTIVE: The aim of this study was to compare quality of life (QoL) in TS women with controls and determine the impact of growth promoting therapy on QoL in TS women. DESIGN: This was a cross-sectional, case-control study. SETTING: The study was conducted at an outpatient clinic at Sahlgrenska University Hospital, Göteborg, Sweden. PATIENTS: PATIENTS included 111 TS women (age range 18-59 yr) and 111 randomly selected, age-matched women (25-54 yr) from the World Health Organization Monitoring Trends and Determinants for Cardiovascular Disease project (Göteborg, Sweden) served as controls. MAIN OUTCOME MEASURES: QoL was estimated by the Psychological General Well-Being scale (anxiety, depressed mood, positive well-being, self-control, general health and vitality) and the Nottingham Health Profile (physical mobility, pain, sleep, energy, social isolation, and emotional reactions). RESULTS: TS women reported more social isolation than controls (P < 0.001). After age adjustment, significantly less pain (<0.05) was reported attributable to GH treatment within TS. No significant difference in any other subscales used could be shown. In TS, QoL was negatively affected by higher current age and age at diagnosis and positively affected by better body balance, fine motor function, and higher bone mineral density. CONCLUSIONS: Social isolation was more commonly reported in the whole TS cohort than in the population. Except for less pain, no significant impact on QoL attributable to GH treatment could be found, despite the mean +5.1 cm final height.
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Hormônio do Crescimento Humano/uso terapêutico , Qualidade de Vida/psicologia , Síndrome de Turner/psicologia , Adolescente , Adulto , Fatores Etários , Antropometria , Estatura/efeitos dos fármacos , Densidade Óssea , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Pessoa de Meia-Idade , Destreza Motora , Razão de Chances , Inventário de Personalidade , Proteínas Recombinantes/uso terapêutico , Isolamento Social , Inquéritos e Questionários , Suécia , Síndrome de Turner/terapiaRESUMO
OBJECTIVE: Fractures are related to falling. Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures and has been considered as a syndrome of early ageing. The aim was to study whether fine motor function (FM) and body balance (BB) were impaired and related to genotype, fractures, metabolic variables and hearing. DESIGN: Cross-sectional study. PATIENTS: TS women, n = 75, mean age 30 years (range 16-59) and treated with oestrogen hormone replacement therapy (HRT) at the out-patient clinic, Sahlgrenska University Hospital, Göteborg, Sweden, and 31 healthy controls, mean age 37 years (range 24-63). MEASUREMENTS: Six FM and eight BB tests with open and closed eyes, respectively, were done. Bone mineral density was estimated with Dual energy X-ray Absorptiometry. Presence/absence of fractures was noted, blood samples were taken and audiometry was done in the TS women. RESULTS: TS women had poorer FM (27.4 +/- 6.0 vs. 32.8 +/- 2.2; P < 0.0001) and BB (28.0 +/- 8.1 vs. 34.7 +/- 2.4; P < 0.0001) than controls. FM was poorer in TS women with hearing aids compared to those without (P < 0.05). FM and BB were negatively correlated with age, waist : hip ratio and positively correlated with hearing, and bone mineral density, and BB was negatively correlated with physical activity in TS women. BB correlated negatively with age in controls. FM, BB and hearing function were poorer in 45,X, nonmosaics, than in 45,X/46,XX, mosaics. CONCLUSIONS: FM and BB were poorer in adult TS women on HRT than in controls. Higher age, hearing impairment, osteoporosis, abdominal obesity, a sedentary lifestyle and the TS per se were strong determinants, and mosaicism mitigated both fine motor function and BB in TS.
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Audição , Atividade Motora , Equilíbrio Postural , Síndrome de Turner/fisiopatologia , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Suécia , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/genética , Adulto JovemRESUMO
OBJECTIVE: To assess objective and subjective voice parameters among Turner syndrome (TS) women in relation to genotype, hearing, growth, and previous treatment with growth hormone (GH) and androgen given that lowering of speaking fundamental frequency (SFF) during treatment is regarded as a negative side effect. STUDY DESIGN: Cross-sectional, controlled for karyotype and age. METHODS: Voice function was studied objectively (SFF) and subjectively (questionnaire) in 117 women with TS. RESULTS: SFF did not differ between treated and nontreated participants or between patients with a spontaneous versus induced puberty. SFF was dependent on karyotype but not age. Subjective voice change was reported four times more often among treated compared with nontreated TS women (odds ratio [OR] = 4.4; 95% confidence interval [CI]: 0.9-20.10), whereas voice and articulation problems were reported three times more often among untreated compared with treated cases (OR = 2.9; 95% CI: 1.0-8.3). Voice symptoms were over-represented among patients having micrognathia (OR = 6.0; 95% CI: 1.6-22.3), hearing loss (OR = 8.6; 95% CI: 1.7-43.1), and monosomy (OR = 6.2; 95% CI: 0.8-36.2) but not among those with an arched palate. CONCLUSIONS: When given to TS girls, GH (33-66 microg/kg/d) and androgen (0.05 mg/kg/d) normalized SFF and reduced voice and articulation problems in adulthood. The TS phenotype includes important voice and speech problems, which in turn are associated with hearing problems, although genotypic, monosomic, and isochromosome patients have more voice problems and also more high-pitched voices than mosaic patients. Most TS women, despite their karyotype or age, exhibit a higher frequency of pitched voice than non-TS women.
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Androgênios/uso terapêutico , Hormônio do Crescimento/uso terapêutico , Fala/fisiologia , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Audição/fisiologia , Humanos , Cariotipagem , Pessoa de Meia-Idade , Mosaicismo , Inquéritos e Questionários , Síndrome de Turner/genética , Voz/fisiologiaRESUMO
It was recently implied that prenatal stress and fetal exposure to glucocorticoids may interfere with hearing ability and noise induced hearing loss in adulthood. In the present study pregnant Wistar rats were stressed during gestation by Chronic Mild Stress (CMS, a variable schedule of different stressors) or by dexamethasone (a synthetic glucocorticoid, i.e. a pharmacological stressor). At birth, but not at weaning, the dexamethasone offspring exhibited significantly decreased body weight compared to both control offspring and progeny from dams exposed to CMS during pregnancy. As adults, male offspring were exposed to 105 dB sound pressure level (SPL) wide band noise either continuously for eight hours or for two hours per day on three consecutive days. Oto-acoustic emissions and auditory brainstem responses were recorded before and after exposure to noise. Neither prenatal chronic stress nor prenatal dexamethasone exposure was associated with significantly enhanced noise induced hearing loss compared to controls, and these results were consistent in both subsets of animals. Our data do not support previous reports that prenatal exposure to mild stress nor to dexamethasone is detrimental to the hearing organ per se. However, hearing may be modulated by prenatal stressors under certain circumstances, of which the timing and degree are probably the most important.
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Dexametasona/efeitos adversos , Glucocorticoides/efeitos adversos , Perda Auditiva/etiologia , Ruído/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/etiologia , Estresse Fisiológico/complicações , Estimulação Acústica , Animais , Limiar Auditivo/fisiologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Testes Auditivos , Gravidez , Ratos , Ratos Wistar , Estatísticas não Paramétricas , Estresse Fisiológico/etiologiaRESUMO
OBJECTIVE: To study genotype-phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells. METHODS: One hundred and twenty-six TS women, mean age 31 years, were examined by three specialists, who reported stigmata independent of each other. Dual energy X-ray absorptiometry (DXA) was used to measure bone mineral density (BMD). The karyotype was blinded. Fluorescence in situ hybridization (FISH) was performed on buccal cells. A random population sample served as controls. RESULTS: Forty-four per cent exhibited a 45,X karyotype and 56% a second-cell line, while 27% of all had a 45,X/46,XX mosaicism. Five 45,X cases with a conventional karyotype were 45,X/46,XX mosaic according to FISH. At diagnosis, 45,X cases were younger (P < 0.05) and had more stigmata per person (P < 0.01) than the mosaics. TS with marker chromosome X or Y, iso or ring, did not differ from 45,X in this aspect. The mosaics had higher BMD and SHBG and lower total cholesterol and FSH than TS with 45,X and did not differ compared with controls in terms of body mass index (BMI), waist/hip ratio, BMD, blood pressure, cholesterol, triglycerides, SHBG, diabetes or osteoporosis. The number of stigmata correlated positively to BMI, waist/hip ratio, cholesterol and %45,X and inversely to height and %46,XX according to FISH. CONCLUSIONS: Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.
Assuntos
Doenças Cardiovasculares/genética , Mosaicismo , Síndrome de Turner/genética , Adulto , Índice de Massa Corporal , Densidade Óssea , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Colesterol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Genótipo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Monossomia , Fenótipo , Risco , Globulina de Ligação a Hormônio Sexual/análise , Síndrome de Turner/complicações , Relação Cintura-QuadrilRESUMO
In order to test the Thrifty Phenotype Hypothesis on hearing, data from two cross-sectional studies on hearing were re-evaluated. The data sets comprised 500 18-year-old conscripts, and 483 noise-exposed male employees. Sensorineural hearing loss (SNHL) was over-represented among conscripts with a short stature (odds ratio=2.2) or hearing loss in the family (odds ration=4.2), but not among noise-exposed conscripts (odds ratio=0.9-1.3). Among noise-exposed short employees, hypertension and age exhibited a negative impact on high frequency hearing thresholds, while among tall employees hypertension had no effect on hearing and the influence of age was less pronounced (p<0.01 for body height; p<0.02 for age, hypertension and the interaction between body height and hypertension; p<0.05 for the interaction between body height and age). This suggests that mechanisms linked to fetal programming and growth retardation and/or insulin-like growth factor 1 levels during fetal life, such as a delayed cell cycle during the time window when the cochlea develops, may cause SNHL in adulthood.
Assuntos
Estatura , Transtornos do Crescimento/etiologia , Perda Auditiva Neurossensorial/etiologia , Adolescente , Fatores Etários , Índice de Massa Corporal , Estudos Transversais , Genótipo , Transtornos do Crescimento/embriologia , Transtornos do Crescimento/epidemiologia , Perda Auditiva Provocada por Ruído/epidemiologia , Perda Auditiva Provocada por Ruído/etiologia , Perda Auditiva Provocada por Ruído/genética , Perda Auditiva Neurossensorial/embriologia , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Masculino , Razão de Chances , Fenótipo , Presbiacusia/etiologia , Presbiacusia/genética , Fatores de RiscoRESUMO
BACKGROUND: Several components of the metabolic syndrome coincide with those risk factors linked to sensorineural hearing loss (SNHL). According to the thrifty phenotype hypothesis, the metabolic syndrome can be caused by events during the fetal period. This study tests the thrifty phenotype hypothesis on hearing, using body size at birth and conscription as indirect markers for fetal programming and body mass index as an indicator for the metabolic syndrome. METHODS: Odds ratios were used to analyze birth data regarding body size from birth to conscription as risk factors for hearing loss in 245,092 conscripted Swedish men. FINDINGS: Compared with conscripts born short for gestational age with catch-up growth, those born short with absence of catch-up growth exhibited 134% higher risk of SNHL. Adult short stature was associated with a 50% increased risk. Compared with conscripts with average body mass index, overweight was associated with 30%, obesity with 99%, and overweight if born light for gestational age with 118% higher risk of SNHL. Conscripts born light for gestational age had a 41% increased risk, independent of the later growth pattern. CONCLUSION: The thrifty phenotype hypothesis also seems to be valid for SNHL, meaning that SNHL in adulthood may originate from events during fetal life. SNHL might be a new clinical feature of the metabolic syndrome.
Assuntos
Transtornos do Crescimento/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Obesidade/epidemiologia , Adolescente , Adulto , Estatura , Índice de Massa Corporal , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Síndrome Metabólica/epidemiologia , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Suécia/epidemiologiaRESUMO
During the last 30 years several hearing disability and handicap questionnaires have been designed and used for clinical purposes. The present study includes a review of the most frequently used scales. The aim of the present study was to evaluate the reliability and validity of the Hearing Disability and Handicap Scale (HDHS), which is a shortened and modified version of the Hearing Measurement Scale. Correlations between the Hearing Handicap and Support Scale, the Communication Strategy Scale from the Communication Profile of the Hearing Impaired, pure tone audiometry and speech recognition scores in noise were analysed. Data from 168 men with noise induced hearing loss of different degrees was obtained. Also a test-retest was conducted. The disability section of the HDHS seemed accurate but offered no improvement of prediction compared to previous scales. Even though the reliability of the handicap section was sufficient, its validity and clinical use is discussed and suggestions about improvements given. Since standardised scales are necessary if results are to be compared worldwide, guidelines regarding the clinical use and benefit of hearing disability and handicap scales are required.