ABSTRACT
Los niños y hombres con el síndrome 47 XYY tienen dos cromosomas Y en vez de uno. Esto significa que tienen 47 cromoso- mas en lugar de 46. El cromosoma adicional se obtuvo durante la formación del esperma que se juntó con el óvulo al formar el feto o durante el desarrollo temprano del feto, justo después de la concepción. El cromo - soma extra no puede ser removido nunca. El síndrome 47 XYY ocurre al azar. (1). Algunos médicos genetistas cuestionan si el uso del término «síndrome¼ es apropiado para ésta anomalía, porque el fenotipo es normal. (2). Las personas 47 XYY , presentan un aspecto físico normal, y se caracterizan por una estatura alta, que se hace más evidente en la adolescencia. (1, 2, 3)...(AU)
Subject(s)
Humans , Male , Adolescent , Gigantism/complications , Human Growth Hormone/genetics , Sex Chromosome Aberrations , XYY Karyotype/diagnosisABSTRACT
Este trabalho mostra uma rara variação de tamanho e forma de um segundo pré-molar inferior esquerdo, expondo algumas considerações sobre tal ocorrência, bem como apresentando um caso clínico. Tal apresentação acontece com a intenção de mostrar o desenvolvimento do tratamento, mas sobretudo o ineditismo de tal ocorrênia
Subject(s)
Humans , Male , Child , Bicuspid/anatomy & histology , Bicuspid/growth & development , Gigantism/complications , Malocclusion/etiology , Tooth/anatomy & histology , Tooth/growth & developmentABSTRACT
50 patients with autonomous growth hormone excess (48 with adult acromegaly and 2 with gigantism) were studied between 1966 to 1986 (2.38 pts/year). Characteristic clinical presentation, an increase in growth hormone (GH) uninhibited by glucose, and/or hyperphosphemia and hyperhydroxiprolinuria were present in all patients. No cases of hypercalcemia were recorded. Phosphemia was increased in 55.8%, alkaline phosphatases in 61.7%, calciuria in 26.9% and hydroxyprolinuria in 74.2% of the patients. Basal GH was over 5 ng/ml (89.9 DS +/- 170.9) in 42 pts, and in 37 was not suppressed after glucose administration, 38% had an increased (paradoxical response) and 62% a flat response (less than 50% change of basal values). TRH test was performed in 14 patients, 8 presented an increase in GH titer. Hyperprolactinemia was seen in 4 of 12 patients in whom this hormone was measured. The size of the sella turcica was increased in 93%, and although the larger sellar size correlated to higher levels of GH, correlation was not significant. 20% of the pts had rheumatological disease, 14% goiter, 12% cardiac disease, 26.5% had diastolic hypertension and 4% renal lithiasis (hypercalciuric pts). 38% had hyperglycemia with a diabetic glucose tolerance test and 18% had non-diabetic abnormal glucose tolerance test.
Subject(s)
Acromegaly/blood , Gigantism/blood , Acromegaly/complications , Adolescent , Adult , Child , Female , Gigantism/complications , Growth Hormone/blood , Humans , Male , Middle AgedSubject(s)
Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Acromegaly/diagnosis , Gigantism/diagnosis , Acromegaly/complications , Acromegaly/metabolism , Gigantism/complications , Gigantism/metabolismABSTRACT
Children with Sotos syndrome have growth acceleration, macrocephaly, acromegaloid features and delay in neuropsychomotor development during infancy. Syndrome delineation and differential diagnosis are based on evaluation of phenotypic characteristics and evolutive history of the patients. Seven patients with this syndrome are reported, and the relative occurrence of the phenotypic characteristics present in 198 reported cases are reviewed. Motor difficulties present in those patients during early infancy are responsible for the poor performance on IQ tests. Oriented stimulation should be encouraged in order to help the affected children to overcome their initial difficulties and to achieve normal scholarity and life performance.
Subject(s)
Brain Diseases/complications , Gigantism/complications , Psychomotor Disorders/etiology , Adult , Body Height , Child , Child, Preschool , Female , Humans , Infant , Male , Phenotype , Psychomotor Disorders/physiopathology , Psychomotor Performance , SyndromeABSTRACT
Se estudió 618 bebés macrosómicos de una población de 8,880 recién nacidos vivos (6.9%). Para los propósitos de nuestro análisis se consideró 500 casos, encontrándose la asociación de ciertos factores maternos y fetales con macrosomía, como paridad y edad (43%), edad gestacional de 39 semanas o más (90%), diabetes materna (1.9%) sexo masculino (65%). La aplicación del vacuum extractor fue el doble con respecto a la población general (4.6%: 2.1%). La morbilidad del macrosómico fue el doble de la del recién nacido de peso normal (28%: 14%). La incidencia de asfixia, aspiración de meconio y trauma al nacimiento se incrementó en relación al peso. La tasa de mortalidad neonatal en los macrosómicos fue de 8%, la causa de muerte relacionada en especial al tamaño fetal. Para mejorar el pronóstico del infante macrosómico, se debe establecer un manejo combinado pediátrico-obstétrico orientado a identificar la población en riesgo y la detección antenatal de la macrosomía, en un intento de disminuir la morbilidad asociada al evento del parto
Subject(s)
Infant, Newborn , Humans , Male , Female , Infant Mortality , Gigantism/epidemiology , Peru , Gigantism/complicationsABSTRACT
The diagnosis of Beckwith-Wiedemann syndrome may be missed because of variable or incomplete clinical expression. Recognition of such patients is important, however, because they have the potential for development of neoplasia. It seems likely that BWS and the congenital asymmetry-abdominal malignancy syndrome are at either end of the same spectrum, and that intermediate forms are the connecting links.