ABSTRACT
Resumen ANTECEDENTES El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos. CASO CLÍNICO Paciente de 8 años de edad, que al examen físico no evidenció ninguna característica fenotípica propia del síndrome de Turner, excepto talla baja, 1.28 cm (por debajo del percentil 3). La laparoscopia exploradora mostró al útero hipoplásico, trompas rudimentarias, cintillas ováricas hipoplásicas delgadas y anillos inguinales normales sin evidencia de hernias, no se detectó tejido testicular. El resultado de la citogenética convencional en sangre periférica fue de: 46,XY; bandeo "C" 46,XY; FISH 45,X[230]/46,XY[117]/46,X,dic.Y[64]. La dactiloscopia con aumento de verticilos coincidió con el aumento del número de crestas mayor al reportado como normal (127 ± 0.8), en quiroscopia ángulo ATD (92°), número de crestas a-b (86) y el porcentaje de t (24.3%). CONCLUSIÓN Se discute uno de los pocos casos reportados en la bibliografía de síndrome de Turner con tres líneas celulares diferentes, resultantes de un evento no disfuncional poscigótico y estructural cromosómico, así como el análisis de la dactiloscopia y quiroscopia y los aspectos genéticos, medio ambientales y bioquímicos de los dermatoglifos, coincidentes con los del síndrome clásico.
Abstract BACKGROUND Usually, cytogenetic analysis of Turner´s syndrome is presented as a single monosomic X cell line. Are rare the reported cases in which there are multiple cell lines and even less frequent descriptions of structural chromosomal aberrations of the Y-chromosome. Additionally, the cases reported to date do not include finger/palm process analysis. We present an infrequent case of a Turner syndrome with three different cell lines including a structural aberration of the Y-chromosome and to correlate with finger process and palm process analysis. CLINICAL CASE A 8-year-old female patient who did not show any Turnerian syndrome phenotypic characteristics except low height, 1.28 cm (under 3th percentile). Exploratory laparoscopy shows hypoplastic uterus, with rudimentary tubes, thin hypoplastic ovaries and normal inguinal rings without evidence of hernias. No testicular tissue was detected. Conventional cytogenetic findings in peripheral blood are: 46, XY; "C" banding 46, XY; FISH 45, X [230] / 46, XY [117] /46,X,dic.Y [64]. Finger process with increase of whorls was observed, coinciding with the increase in the number of ridges higher than that reported as normal (127 ± 0.8) and in the palm process the atd angle (92º), number of a-b crests (86) and the percentage of t (24.3%). CONCLUSION We discuss one of the few cases reported in the scientific literature of Turner syndrome with three different cell lines results from a non-dysfunctional post-zygotic etiology and its chromosomic structure; as well as the results of genetic, environmental and biochemical aspects of the finger/palm process and their correlation with the classical syndrome.
ABSTRACT
Objective To study the clinical characteristics of thyroid carcinoma in young females,in order to improve the diagnosis and treatment of this disease.Methods The clinical data of 74 consecutive young female patients with thyroid carcinoma treated in our hospital in the recent ten years were analysed.In most of the cases,there was no firm texture or fixation of the thyroid nodules to surrounding structures on physical examination before operation.Ultrasonography was performed in all patients and multiple thyroid nodules were found in 61 cases(82.43%).Thyroid scintiscans were performed in 43 cases,and thyroid nodules were found in 41 cases.The cold,cool and warm nodules were found in 14,18 and 9 cases,respectively,by scintiscans.Fine needle aspiration biopsy(FNAB) was performed in 11 cases,and in 2 cases were negative,1 case showed abnormal cell,3 cases were suspicious of carcinoma,and 5 cases were confirmed papillary carcinoma.Results Papillary carcinoma was found in 70 cases,follicular carcinoma in 3 cases and medullary carcinoma in 1 case by histological examination,and benign disease was also accompanied in most cases.Lymph node metastases was found in 28 cases(37.84%),and the rate of metastases was significantly different than that of older female patients(16.46%) at the same time.There were 2 cases who died 3 years after operation because of metastases.Conclusions The lymph node metastases were prevalent in young female patients with thyroid carcinoma.The texture and mobility of the nodules cannot be used to differentiate benign from malignant nodules.We should carefully analyze every nodule found on ultrasonography.For the solid nodules with diameter larger than 1.0cm,we suggest operation;for the non-solid nodules with diameter larger than 2.0cm,we prefer scintiscans and FNAB for diagnosis.
ABSTRACT
Two cases of cavernous hemangioma of the cauda equina are presented. Cavernous hemangioma of the cauda equina is rare vascular malformation. This is the fifth and sixth case of cavernous hemangioma of the cauda equina in the literature. These cases are female patients. MRI is more sensitive method than spinal myelography and CT in diagnosis of cavernous hemangioma of the cauda equina. Total removal was possible without immediate post-operative complication.