ABSTRACT
BACKGROUND: Congenital hypothyroidism is one of the most frequent endocrine diseases of the newborn and requires an early diagnosis to avoid its deleterious effects on neurological and intellectual functions. AIM: To evaluate thyroid scintigraphy (TS) findings in newborns with congenital hypothyroidism (CH), detected in the national program of newborn screening, which is working in Chile since 1992. MATERIAL AND METHODS: TS findings of 189 newborns with CH (68% female) were analyzed. Tc99m pertechnetate TS was performed at 19 +/- 11 days of life. The gland was classified as eutopic, ectopic or absence of contrast (AC). Eutopic glands were classified by visual and quantitative criteria as: normal, goiter and decreased contrast (DC). TS results were compared by gender and hormonal levels. RESULTS: Forty seven percent of newborns had ectopy, 29.1% eutopy and 24.3% AC. Eutopic gland predominated in males (44.2% vs 22.7%) and ectopy was more frequent in girls (53.1% vs 32.8%, p < 0.05). Newborns with AC had the most severe hormonal alterations, without gender differences. Newborns with normal TS had less hormonal alterations than those with goiter. CONCLUSIONS: TS allows an etiological classification of CH. Thyroid dysgenesis is the most frequent cause, most of which correspond to ectopy, especially in girls. Eutopic glands are present in one third of newborns with CH. Goiter predominates, especially in males.
Subject(s)
Congenital Hypothyroidism , Hypothyroidism/diagnostic imaging , Radiopharmaceuticals , Sodium Pertechnetate Tc 99m , Thyroid Gland/diagnostic imaging , Chile , Female , Humans , Infant, Newborn , Male , Neonatal Screening , Radionuclide ImagingABSTRACT
Cultures of skin fibroblasts show variation of androgen binding with culture conditions; binding variations are usually avoided by using confluent cultures. In this work, we analysed the effect of cell density and mitogenic agents on the level of androgen receptor (AR) of cultured human skin fibroblasts. Results demonstrated that in cultures of human skin fibroblasts, cellular binding of dihydrotestosterone was higher in cells grown at low than at high cell density. The reduction in binding resulted from a decrease in the number of high affinity receptors and not from a change in receptor affinity. Immunocytochemistry for AR showed greater staining intensity in cells grown at low than at high cell density. Additionally, immunoblot analysis demonstrated more AR protein in low cell density cultures. On the other hand, it was observed that cells grown at low cell density showed diminished androgen binding capacity after 24 h of treatment with insulin-like growth factor (IGF-l), basic fibroblast growth factor (bFGF), epidermal growth factor (EGF), or granulocyte-colony stimulating factor (G-CSF); this effect of growth factors was not observed in cells grown at high cell density. In conclusion, we found that cell density of cultures and mitogenic agents can regulate AR binding activity in human fibroblasts. While we do not yet know how changes in cell density affect the amount of AR, we conclude that the mechanism could be mediated by activation of the tyrosine kinase pathway, as the effect was reproduced by mitogens.
Subject(s)
Receptors, Androgen/physiology , Skin/cytology , Cell Cycle , Cells, Cultured , Fibroblasts/cytology , Fibroblasts/metabolism , Humans , Immunohistochemistry , Male , Receptors, Androgen/metabolism , Skin/metabolismABSTRACT
Se analiza una casuística de 27 casos de hiperplasia suprarrenal virilizante reunidos entre 1963 y 1986, de los cuales 23 son de sexo femenino y 4 masculinos. El 63% fueron diagnosticados dentro del primer mes de vida y el 22% después del primer año. La principal causa de consulta fue la de sexo ambiguo siendo también frecuente la hipertrofia del clítoris. Los principales exámenes de laboratorio fueron, 17 cetoesteroides y pregnantriol urinarios; 17 hidroxiprogesterona y electrólitos plasmáticos. El tratamiento actual consiste en cortisol 20 a 30 mg por metro cuadrado y por día en 3 dosis más 9 alfa-fluor-hidrocortisona 0,05 a 0,15 mg diario. En casos de descompensación con desequilibrio electrolítico hay que reponer sodio y administrar Doca (1 a 2 mg intramuscular cada 12 horas) e hidrocortisona (50 a 100 mg endovenoso). La letalidad del grupo estudiado fue de 33% destacando las infecciones entre las causas de muerte más frecuentes
Subject(s)
Infant, Newborn , Infant , Child, Preschool , Child , Humans , Male , Female , History, 20th Century , Adrenal Hyperplasia, Congenital/diagnosis , Desoxycorticosterone/therapeutic use , Drug Therapy, Combination , Fludrocortisone/therapeutic use , Adrenal Hyperplasia, Congenital/drug therapy , Hydrocortisone/therapeutic useABSTRACT
Se estudiaron 48 casos de telarquia prematura cuyas edades de consulta fluctuaron entre 1 mes y 8 años. Se realizó historia clínica, examen antropométrico, evaluación de grado de desarrollo mamario (según Tanner) y exámenes de Laboratorio:Rx. de cráneo E.O., EEG., fondo de ojo, 17 ks, 170H, y GT en orina 24 hrs., Colpocitograma, FSH, LH y PRL plasmática por RIA. Las pacientes fueron observadas por períodos de 3 meses a 6 años 6 meses, con un promedio de 2 años 6 meses. Se encontró relación entre desarrollo mamario y la presencia de estrogenismo vaginal en más del 50% de los casos. La aceleración de la edad ósea fué un hallasgo pocofrecuente. Las concentraciones de FSH y LH plasmáticas estaban en la mayoría de los casos dentro del rango normal. No se observaron modificiones significativas de la velocidad de crecimiento ni progresión de la telarquia prematura a pubertad precoz
