Deficiencia somatotrófica en niños: características clínicas y bioquímicas según la etiología en 75 casos / Somatotrophic deficiency in children: report of 75 cases

Somatotrophic deficiency (SDMT) can be due to a deficiency of growth hormone releasing hormone(GHRH), growth hormone (GH) or insulin like growth factor I (IGF-I). Although its clinical features have been thoroughly described, the diagnosis is still controversial. Now there is an effective treatment with GH or IGF-I for these patients. AIM: To analyze the main clinical, etiological and laboratory characteristics of 75 SD patients (44 males), aged 9.4 + 4.5 years, with severe growth retardation. The diagnosis was confirmed by the lack of response to two GH stimulation tests (Clonidine, Glugagon or Insulin) and low levels of IGF-I or insulin-like growth factor binding protein- 3 (IGFBP-3). RESULTS: In 34 patients (46 percent), the cause of DSMT was considered idiopathic (DSMT-I), in 31 (41 percent) there was an organic cause (DSMT-O), most commonly caused by malformations or pituitary tumors and in 10 (13 percent), it was genetic (DSMT-G) (three patients with Laron's Syndrome, five with mutations of GH gene and 2 with probable mutations of Prop-1 and Pit-1 genes). IGF-1 levels, were significantly lower in DSMT-O and DSMT-G thanin DSMT-I (21.2 +/- 46.1, 23.4 +/-30.3 ng/mL and 50.2 +/- 48.3 ng/mL, respectively). The lowest height score corresponded to DSMT-G, compared to DSMT-O and DSMT (­5.7 +/- 0.9, -4.0 +/- 1.6 and ­4.3 +/- 1.2 DS, respectively) CONCLUSIONS: The high percentage of organic and genetic etiologies in our patients can be due to the systematic search of these diseases. DSMT-G (Laron, mutations in GH and Pit-1 genes) had the most severe growth retardation.

Chromatographic, immunochemical and electrophoretic studies of human uterotrophic placental factor (hUTPF)

The human uterotrophic placental factor (hUTPF) is a protein obtained from human term placentae and acts on uterine growth, mammary gland, and blastocyst development and implantation. In the present work, we further define some molecular characteristics of hUTPF using chromatographic, electrophoretic and immunochemical methods. It is concluded that in human term placenta a high molecular weight hUTPF is present, bound to albumin and immunoglobulins, which could represent a storage or transport form of this factor. hUTPF presents several molecular forms, one of them of 270 kDa and others of approximately 90 kDa and 27 kDa

Bocio y tiroiditis linfocitaria crónica / Goiter and chronic lymphocitic thyroiditis

Se estudiaron 60 pacientes con bocio, de 3 a 16 años de edad, 58 eran mujeres, 38 (63%) de los cuales presentaba dos o más elementos sugerentes de tiroiditis linfocitaria crónica (TLC) (criterio de Fisher) destacando en ellos el compromiso de la función tiroidea 18/38 (47,4%) con hipotiroidismo y 7/38 (18,4%) con hipertiroidismo. Los demás pacientes con bocio difuso, que no cumplían los criterios de Fisher, fueron denominados "bocio no tiroiditis" (37%) y eran eutiroideos en proporción de 95%. En todos los pacientes con probable TLC se detectaron anticuerpos antimicrosomales en títulos relativamente altos. Sólo 32% tenían simultáneamente anticuerpos antimicrosomales y antitiroglobulinas positivos. Entre los 22 pacientes con "bocios no tiroiditis", 6 (28%) tenían anticuerpos antimicrosomales positivos, en títulos bajos (1 x 100 y 1 x 40, respectivamente). En un grupo control de 28 niños de edades similares a los propósitos, sin enfermedades endocrinas ni antecedentes familiares de afecciones tiroideas, sólo 3 (11%) presentaron anticuerpos positivos, en títulos bajos

Tratamiento con 1,25 dihidroxicolecalciferol (DHCC) en ninos con diferentes formas de raquitismo resistente. / Treatment with 1,25-dihydroxycholecalciferol (DHCC) in children with different types of resistant rickets

Se estudio la respuesta al tratamiento con 1,25 DHCC en distintas formas de raquitismo resistente. En 8 pacientes con hipofosfemia simple hubo buena respuesta clinica, reparacion radiologica parcial, disminucion de fosfatasas alcalinas y persistencia de hipofosfemia. En el raquitismo hipocalcemico y en un paciente con insuficiencia renal cronica hubo buena respuesta clinica,radiologica y bioquimica