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Mosaicismo Turner 45XO/XY. Diagnóstico diferencial con disgenesia gonadal mixta
Bufalino,Gesualdo; Fabrega,Ramona; González,Clamores; Romero,Grecia;
Revista de Obstetricia y Ginecología de Venezuela , 2007,
Abstract: we report the case of a 14 years and 4 months old patient, referred to our out clinic consultation foramenorrhea, short stature and turner stigmas at physical examination. peripheral blood and gonadal karyotype, as well as endocrinological profile and histopathological assessment of gonads were fundamental for establishing the differential diagnosis of mixed gonadal dysgenesis. hormonal replacement therapy with equine conjugated estrogens was indicated with a good clinical evolution.
Mosaicismo Turner 45XO/XY. Diagnóstico diferencial con disgenesia gonadal mixta
Gesualdo Bufalino,Ramona Fabrega,Clamores González,Grecia Romero
Revista de Obstetricia y Ginecología de Venezuela , 2007,
Abstract: Se presenta el caso de una paciente de 14 a os y 8 meses, referida a la consulta por presentar amenorrea, talla baja y estigmas turnerianos al examen físico. El cariotipo realizado en sangre periférica y gónadas, así como el perfil endocrinológico y el resultado histopatológico de las gónadas fueron fundamentales para establecer el diagnóstico diferencial con disgenesia gonadal mixta. Se indicó terapia de reemplazo hormonal con estrógenos equinos conjugados presentando buena evolución clínica. We report the case of a 14 years and 4 months old patient, referred to our out clinic consultation foramenorrhea, short stature and Turner stigmas at physical examination. Peripheral blood and gonadal karyotype, as well as endocrinological profile and histopathological assessment of gonads were fundamental for establishing the differential diagnosis of mixed gonadal dysgenesis. Hormonal replacement therapy with equine conjugated estrogens was indicated with a good clinical evolution.
Síndrome de Turner: Crecimiento y descripción clínica en 83 ni as chilenas Spontaneous growth of 83 Chilean girls with Turner's syndrome  [cached]
Rossana Román,María Eliana Vallejos,Mónica Mu?oz,Ruth Schneider
Revista médica de Chile , 2002,
Abstract: Background: Short stature is the main feature of patients with Turner's syndrome. There is limited information regarding the spontaneous growth of these patients in Chile. Aim: To develop a specific growth chart for Chilean patients with Turner's syndrome. Material and methods: We retrospectively analyzed 668 height measurements from 85 Chilean girls, born after 1968, with 45XO karyotype (minimum 15%), and without an Y chromosome fragment. Patients with hormonal therapy, such as growth hormone or estrogen, except thyroid hormone replacement, were excluded. Results: The karyotypes were 60% 45XO, 25% 45XO, 46XX, and 15% other complex mosaics. The birth length was 46.8 ± 2.1 cm. The final height of our patients was 138,20 ± 7,0 cm. Conclusions: The final height achieved by our patients, is similar to Argentinian and Japanese patients, but is below the mean stature reported for Scandinavian and Northamerican patients who achieve a mean adult height of approximately 147 and 142 cm respectively. The birth length is also lower than that reported in those studies (Rev Méd Chile 2002; 130: 977-84).
Síndrome de Turner: Crecimiento y descripción clínica en 83 ni?as chilenas
Román,Rossana; Vallejos,María Eliana; Mu?oz,Mónica; Schneider,Ruth; Youlton,Ronald; Henriquez,Cecilia; Cassorla,Fernando;
Revista médica de Chile , 2002, DOI: 10.4067/S0034-98872002000900003
Abstract: background: short stature is the main feature of patients with turner's syndrome. there is limited information regarding the spontaneous growth of these patients in chile. aim: to develop a specific growth chart for chilean patients with turner's syndrome. material and methods: we retrospectively analyzed 668 height measurements from 85 chilean girls, born after 1968, with 45xo karyotype (minimum 15%), and without an y chromosome fragment. patients with hormonal therapy, such as growth hormone or estrogen, except thyroid hormone replacement, were excluded. results: the karyotypes were 60% 45xo, 25% 45xo, 46xx, and 15% other complex mosaics. the birth length was 46.8 ± 2.1 cm. the final height of our patients was 138,20 ± 7,0 cm. conclusions: the final height achieved by our patients, is similar to argentinian and japanese patients, but is below the mean stature reported for scandinavian and northamerican patients who achieve a mean adult height of approximately 147 and 142 cm respectively. the birth length is also lower than that reported in those studies (rev méd chile 2002; 130: 977-84).
Turner’s Syndrome in Adulthood and Cytogenetics  [PDF]
F Hossain,K N Nahar,S Mahmoud,F A Islam,N Begum,P Akhter
Nepal Journal of Obstetrics and Gynaecology , 2014, DOI: 10.3126/njog.v9i2.11744
Abstract: Aims: Turner’s syndrome is a chronic disease of chromosomal aberration. The purpose of the study was to find out the accurate identification of cell line, which is critical for cytogenetic studies, genetic counseling, phenotypic studies carried out with few reconstructive procedures to plan future sexual and reproductive life. Methods: This study design was a prospective hospital based clinical study. In this study, ninety six patients were studied with secondary sex characters with relevant ultrasonogram findings and hormonal assay who underwent karyotyping in Bangabandhu Sheikh Mujib Medical University, Dhaka for a study period of ten years from October 1997 to October 2007. Results: Among 96 patients, 62.5 % of the patients were from 15-18 years. Four girls who were less than 15 years came with Turner’s and testicular stigmata. Twenty women aged more than 26 years presented with coital problems. ?Around 72.9% had no secondary sexual character, 20.83% had normal female type of secondary sex character, and 6.25% had virilizing type of secondary sexual character. Karyotyping of the cases revealed 72.9% (n = 70) had 45XO pattern, which belong to the Turner's stigmata and correlated well with the hormone profile. Whereas, 20.83% (n = 20) had 46XX pattern and 6.25% (n = 6) had 46XY pattern with testicular feminization syndrome with inguinal testis. Conclusions: About 60% of cases were in the 15-18 years age group. Most of the patients presented with no secondary sexual characteristics. 45XO chromosomal pattern was the most common presenting in 72.9% cases. ? DOI: http://dx.doi.org/10.3126/njog.v9i2.11744 ?
SíNDROME DE TURNER CON MOSAICISMO 45X/46XY: REPORTE DE CASO
Wilmar Saldarriaga Gil,Fernando ávila Sánchez,Carolina Isaza de Lourido
Revista Chilena de Obstetricia y Ginecología , 2011,
Abstract: El síndrome de Turner tiene una prevalencia de 1 en 1800 a 5000 recién nacidos vivos femeninos y se caracteriza por la ausencia total o parcial del segundo cromosoma X. Actualmente se reconoce gran variedad en la presentación citogenética, siendo la más común la monosomia del X (45,X) y entre las menos frecuentes los mosaicismos que incluyen fragmentos o la totalidad del cromosoma Y. La presencia de este cromosoma confiere características fenotípicas de androgenización y obliga a la realización de estudios de extensión en las pacientes. Se reporta un caso de síndrome de Turner con mosaicismo 45,X/46,XY, se revisa la literatura y se propone un protocolo de estudio complementario y manejo de las pacientes con este síndrome. Turner syndrome has an estimated prevalence of 1 in 1800 to 5000 female births and is characterized by total or partial absence of the second chromosome X. It's now recognized that there is variation in the cyto-genetic presentaron of the syndrome, being the most common monosomy X (45, X) and among the least frequent it's found mosaicism including fragments or the entire Y chromosome. The presence of Y chromosome confers phenotypic characteristics of androgenization and requires extensión studies in patients. We report a case of Turner syndrome with mosaic 45,X/46,XY karyotype found by G-banding and aditionally, we propose a protocol for further studies and management of patients with this syndrome.
SíNDROME DE TURNER CON MOSAICISMO 45X/46XY: REPORTE DE CASO
Saldarriaga Gil,Wilmar; ávila Sánchez,Fernando; Isaza de Lourido,Carolina;
Revista chilena de obstetricia y ginecología , 2011, DOI: 10.4067/S0717-75262011000100010
Abstract: turner syndrome has an estimated prevalence of 1 in 1800 to 5000 female births and is characterized by total or partial absence of the second chromosome x. it's now recognized that there is variation in the cyto-genetic presentaron of the syndrome, being the most common monosomy x (45, x) and among the least frequent it's found mosaicism including fragments or the entire y chromosome. the presence of y chromosome confers phenotypic characteristics of androgenization and requires extensión studies in patients. we report a case of turner syndrome with mosaic 45,x/46,xy karyotype found by g-banding and aditionally, we propose a protocol for further studies and management of patients with this syndrome.
Turner Syndrome  [cached]
Ramachandran Sudarshan,G. Sree Vijayabala,KS Prem Kumar
Arsiv Kaynak Tarama Dergisi , 2012,
Abstract: Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000): 246-252]
Turner Syndrome
Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma
JK Science : Journal of Medical Education & Research , 2006,
Abstract: Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part) ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.
Amenorrea secundaria-mosaicismo 45,X/46,XX fertilidad y reinicio de funcion menstrual
Jesús A Osuna C
Revista Venezolana de Endocrinología y Metabolismo , 2003,
Abstract: Objetivo: Presentación de una paciente de 17 a os de edad, con un mosaicismo 45,X/46,XX que consultó por amenorrea secundaria, con posterior normalización del ciclo menstrual y fertilidad. Metodos: Historia clínica, estudios endocrinos, laparoscopia, biopsia de ovarios y estudio citogenético. Resultados: La paciente inició cambios puberales espontáneos a la edad de 11 a os y menarca a los 13 a os, seguida de ciclos regulares de 28 días, hasta el momento de su consulta por amenorrea secundaria de 10 meses de evolución. En el exámen físico se constató una talla de 1,48 m., peso corporal de 40 Kg, normal desarrollo de sus caractéres sexuales secundarios y ausencia de alteraciones somáticas particulares. La citología vaginal mostró predominio de células intermedias y ausencia de células superficiales. El estudio hormonal reveló una concentración sérica de LH y FSH en límites altos de la normalidad, estradiol bajo y valores normales de TSH, T4 libre, prolactina y cortisol. La prueba de estimulación con GnRH reveló una respuesta exagerada de ambas gonadotrofinas. El estudio citogenético reveló un mosaicismo 45,X/46,XX. Prueba progestacional: ausencia de sangrado por deprivación postratamienbto con medroxiprogesterona: 10 mg/día/7 días. negativa. Durante 34 meses presentó sangramientos inducidos con ciclos combinados de estrógenos + progesterona, después de lo cual presentó menstruaciones espontáneas hasta lograr embarazo a los 22 a os de edad. A las 38 semanas de embarazo se realizó cesárea electiva de la cual se obtuvo un varón normal. Retorno menstrual a los 4 meses posparto con continuidad de ciclos regulares hasta su edad actual de 29 a os. Conclusiones: El presente caso ilustra el amplio espectro clínico del mosaicismo 45,X/46,XX, en una paciente con diferentes grados de su función ovárica, la cual inició con una menarca normal, seguida de insuficiencia ovárica con amenorrea secundaria hipergonadotrópica y posterior reinicio de ciclos menstruales regulares y subsiguiente fertilidad. Objective: To present a 17-year-old patient with 10-months-secondary amenorrhea, and a 45,X /46,XX mosaicism, who subsequently normalized her menstrual cycles and had spontaneous pregnancy. Methods: Data from the clinical history; endocrinological studies, laparoscopy and ovarian biopsy, and cytogenetic analysis are presented. Results: This patient presented spontaneous pubertal changes at the age of 11 years, and her menarche at 13 years of age, with regular menses every 28 days, and then she developed secondary amenorrhea of 10 months duration at 17 years of age. On physical
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