RESUMEN
The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-Silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 7/genética , Trastornos del Crecimiento/genética , Anomalías Múltiples/clasificación , Adulto , Manchas Café con Leche/genética , Trastornos de los Cromosomas , Hipoplasia del Esmalte Dental/genética , Facies , Femenino , Dedos/anomalías , Impresión Genómica , Trastornos del Crecimiento/clasificación , Cabeza/anomalías , Humanos , Recién Nacido , Discapacidades para el Aprendizaje/genética , Masculino , Fenotipo , Síndrome , Anomalías Dentarias/genéticaRESUMEN
We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.
Asunto(s)
Anomalías Múltiples/genética , Contractura , Discapacidad Intelectual/genética , Pulgar/anomalías , Cromosoma X , Adolescente , Niño , Femenino , Humanos , Masculino , LinajeRESUMEN
A 3-month-old female infant feminized by an ovarian stromal tumor is presented. Clinicopathologic aspects of such tumors occurring in infancy are discussed. In addition, the evaluation of hypothalamic-pituitary function preoperatively and postoperatively are presented. In the preoperative, high-steroid environment, both basal and stimulated secretion of follicle-stimulating hormone (FSH) was suppressed. Secretion of luteinizing hormone (LH) was normal. Following surgical castration, stimulated secretion of both gonadotropins clearly increased. These findings suggest an active but less sensitive negative feedback mechanism for FSH than for LH during infancy, i.e., high concentrations of gonadal steroids are necessary to maximally suppress FSH secretion while normal steroid concentrations appear to maximally suppress LH secretion. Developmental changes in hypothalamic-pituitary sensitivity to negative feedback controls are discussed in light of these findings.
Asunto(s)
Sistema Hipotálamo-Hipofisario/fisiopatología , Neoplasias Ováricas/fisiopatología , Femenino , Hormona Folículo Estimulante/metabolismo , Hormonas Esteroides Gonadales/sangre , Humanos , Sistema Hipotálamo-Hipofisario/metabolismo , Histerectomía , Lactante , Recién Nacido , Hormona Luteinizante/metabolismo , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Pruebas de Función Hipofisaria , Pubertad PrecozAsunto(s)
Hiperplasia Suprarrenal Congénita , Hiperfunción de las Glándulas Suprarrenales/genética , Tamización de Portadores Genéticos , Esteroide Hidroxilasas/deficiencia , Hiperfunción de las Glándulas Suprarrenales/sangre , Hiperfunción de las Glándulas Suprarrenales/etiología , Hormona Adrenocorticotrópica , Homocigoto , Humanos , Hidroxiprogesteronas/sangre , Progesterona/sangreRESUMEN
A 12-year-old with galactorrhea is presented. He was in early puberty, had gynecomastia, and was markedly obese. Roentgenograms of the skull showed an asymmetrically enlarged sella trucica, but pneumoencephalography did not indicate suprasellar extension of the pituitary tumor. Preoperative studies of anterior pituitary function were normal except for persistent hyperprolactinemia. By transsphenoidal approach, a microadenoma of the pituitary was removed. Lactation ceased within a week, and four months postoperatively the patient had normal anterior pituitary function studies. A review of the literature indicates that galactorrhea in males is very rare. The most frequently documented cause, excluding drug ingestion, is a pituitary tumor.
Asunto(s)
Adenoma Cromófobo/complicaciones , Galactorrea/etiología , Trastornos de la Lactancia/etiología , Neoplasias Hipofisarias/complicaciones , Adenoma Cromófobo/diagnóstico , Niño , Femenino , Galactorrea/diagnóstico , Ginecomastia/complicaciones , Humanos , Masculino , Obesidad/complicaciones , Neoplasias Hipofisarias/diagnóstico , EmbarazoRESUMEN
A total of 130 patients with uncomplicated short stature (4 to 17 years of age) were treated with oxandrolone, 0.25 mg/kg/day, for up to four years. Oxandrolone therapy resulted in a two-fold increase in mean growth velocity in the first six months of therapy and was an effective growth stimulant for the full four-year period. There was no overall adverse effect of oxandrolone on post-treatment mean growth velocity or on skeletal maturation relative to height gain. There were 37 patients with greater increase in height age than bone age and 22 patients with greater increase in bone age than height age. Assessment of the contribution of oxandrolone therapy to the latter group is difficult because of inadequate methodology and the wide variation in individual growth patterns. Taken in their entirety, the data suggest that oxandrolone is useful in the prolonged treatment of uncomplicated short stature and is not associated with undesirable acceleration of skeletal maturation.
Asunto(s)
Trastornos del Crecimiento/tratamiento farmacológico , Oxandrolona/uso terapéutico , Adolescente , Determinación de la Edad por el Esqueleto , Factores de Edad , Estatura/efectos de los fármacos , Niño , Preescolar , Cronología como Asunto , Femenino , Humanos , Masculino , Oxandrolona/farmacología , Factores de TiempoRESUMEN
Luteinizing hormone-releasing hormone (100 mug iv) produced a response of LH, FSH, testosterone, and estradiol in children with premature pubarche that was not different from that among normal prepubertal children. Hence, this study provides no evidence that hypothalamic-pituitary-gonadal maturation occurs with the onset of premature sexual hair.
