Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY / Mixed gonadal dysgenesis, a case of Turner syndrome in mosaicism 45,X/47,XYY

Resumen ANTECEDENTES: Alrededor de 45% de los pacientes con síndrome de Turner tienen línea monosómica 45,X. La existencia del cromosoma Y en mosaicos corresponde a 2-5% de los casos. La severidad del fenotipo se relaciona con el porcentaje y distribución de las células normales, inclusive se estima que 90% de las presentaciones en mosaico podrían no llegar a tener diagnóstico. OBJETIVO: Reportar un caso atípico de una adulta joven con síndrome de Turner en mosaico 45,X/47,XYY. CASO CLÍNICO: Paciente de 27 años de edad, que acudió a consulta al Hospital Universitario de Santander, Colombia, debido al antecedente de amenorrea primaria, apariencia femenina normal, talla y peso promedio para la población colombiana, mamas Tanner 3 y genitales externos Tanner 5. La resonancia magnética nuclear reportó: hipoplasia uterina y ovarios atróficos. El cariotipo de alta resolución diagnóstica fue de síndrome Turner en mosaico 45,X[60%]/47,XYY [40%]. CONCLUSIÓN: En mujeres con amenorrea primaria y talla baja debe sospecharse el síndrome de Turner. En virtud de la variedad fenotípica, las condiciones en mosaico pueden retrasar el diagnóstico hasta la adultez. Incluso 90% de los mosaicos pueden no diagnosticarse.

Abstract BACKGROUND: Approximately 45% of patients with Turner syndrome have monosomic line 45, X. The existence of the Y chromosome in mosaics corresponds to 2 to 5% of the cases, the severity of the phenotype is related to the percentage and distribution of normal cells, it is even estimated that 90% of mosaic presentations may not have diagnosis. OBJECTIVE: To present an atypical case of a young adult with Turner syndrome in mosaic 45,X / 47,XYY CLINICAL CASE: A 27-year-old woman visits the University Hospital of Santander for a history of primary amenorrhea, normal female appearance, average height and weight for Colombian population, Tanner 3 breasts and external genitalia Tanner 5. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. High-resolution karyotype diagnoses Turner mosaic syndrome 45,X [60%] / 47,XYY [40%]. CONCLUSION: Turner's syndrome should be suspected in women with primary amenorrhea and low stature, however, mosaic conditions may delay their diagnosis until adulthood due to their phenotypic variety, up to 90% of the mosaics can reach no have diagnosis.

Manejo quirúrgico del pie cavo anterior en pacientes con Charcot-Marie-Tooth; evolución a 5 años / Surgical management of anterior cavus foot in Charcot-Marie-Tooth patients. Five-year follow-up

La neuropatía hereditaria motora y sensitiva presenta deformidad en los pies, como varo, cavo y dedos en garra. La enfermedad de Charcot-Marie-Tooth tiene descrita diversas técnicas quirúrgicas. Objetivo: Evaluar el resultado clínico y funcional de la osteotomía basal en "V" de los metatarsianos centrales con elevación del primer metatarsiano, osteotomía dorsal más osteotomía de cierre y elevación del quinto metatarsiano en los pacientes de Charcot-Marie-Tooth en un período de cinco años. Material y métodos: Es un estudio prospectivo, aleatorio, longitudinal, observacional y descriptivo en un período comprendido de cinco años. El total de pacientes que cumplieron los criterios de inclusión fueron 24, 16 del sexo masculino y 8 del sexo femenino. Con un total de 34 pies, a siete se les realizó el procedimiento quirúrgico en el pie derecho, a siete en el pie izquierdo y a 10 de manera bilateral, quedando un total de 34 pies tratados. Resultados: Se encontró un coeficiente de correlación de Pearson de -0.1 y una T de 1.71. Con ello se observó una diferencia estadística significativa entre las variables con lo que a los seis meses encontramos que el tratamiento quirúrgico tiene beneficios representativos. Conclusiones: El estudio realizado mostró un valor estadístico significativo tanto en la función, dolor y alineación en pacientes que se sometieron al tratamiento quirúrgico, comparado con el grado previo al evento quirúrgico, por lo que se recomienda continuar con esta técnica en todos los pacientes que sean portadores de pie cavo anterior.

Hereditary sensorimotor neuropathy involves foot deformities such as varus and cavus foot and claw toes. Several surgical techniques have been described to treat Charcot-Marie-Tooth disease. Objective: To assess the clinical and functional result of "V" basal osteotomy of the central metatarsals with elevation of the first metatarsal, dorsal osteotomy plus closing osteotomy, and elevation of the fifth metatarsal in Charcot-Marie-Tooth patients during a five-year period. Material and methods: Prospective, randomized, longitudinal, observational and descriptive study conducted during a five-year period. Twenty-four patients met the inclusion criteria: 16 males and 8 females. Seven underwent the surgical procedure in the right foot, seven in the left, and 10 in both feet, for a total of 34 feet treated. Results: The Pearson correlation coefficient was -0.1 and T = 1.71. A statistically significant difference was seen between the variables, which meant that, in the six-month follow-up, surgical treatment had representative benefits. Conclusions: The study found a statistically significant value for function, pain and alignment in patients who underwent surgical treatment, compared with their status prior to surgery. It is therefore recommended to continue using this technique in all patients presenting with anterior cavus foot.

Oocyte structure and ultrastructure in the Mexican silverside fish Chirostoma humboldtianum (Atheriniforme: Atherinopsidae)

The structural and ultrastructural features of gonads from endemic Mexican fish have received scarce attention. This study describes the histological and ultrastructural characteristics of oocyte from Chirostoma humboldtianum. The ovary is asynchronic, and as such, most phases of oocyte development are found in the same ovary. The complete process of oogenesis was divided in five stages: oogonium and folliculogenesis, primary growth, cortical alveoli and lipid inclusions, vitellogenesis, and maturation. The presence of big filaments, which appear at the end of primary growth, induces some common follicular adaptation. During primary growth, abundant ribosomes, the rough endoplasmic reticulum, and mitochondria are grouped in the cytoplasm. At the end of this stage, the Z1 layer of the chorion is developed, while microvilli start to be evident. In the cortical alveoli and lipid droplets phase, intense PAS positive vesicles, some of them containing nucleoid material, are observed in the peripheral cytoplasm and the lipid droplets take a more central position. In vitellogenesis, the proteic yolk accumulates in a centripetal way while the chorion is completely formed. During maturation, the germinal vesicle migrates to the animal pole, meiosis is restored, and there is nuclear breakdown. The oocyte increases its size and holds some oil droplets and a big fluid mass of yolk. On the outside, filaments completely surround the oocyte. Rev. Biol. Trop. 56 (3): 1371-1380. Epub 2008 September 30.