ABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Body Height , Growth Hormone/deficiency , Growth Disorders/diagnosis , Growth Disorders/etiology , Anthropometry , Chile , Dwarfism/etiology , Retrospective Studies , Insulin-Like Growth Factor I/analysis , Growth Hormone/analysis , Growth Hormone/genetics , Mutation , Body Weight , /analysis , Growth Disorders/geneticsABSTRACT
Objetivo: Evaluar los resultados de ICSI realizadas con espermatozoides frescos y congelados obtenidos desde biopsias testiculares en pacientes azoospermicos desde junio 2003 a julio 2005 en el Hospital Clínico de la Universidad de Chile. Pacientes y Método: Catorce pacientes portadores de azoospermia fueron sometidos a biopsia testiculares con fines diagnósticos y terapéuticos. Las biopsias de 11 pacientes fueron realizadas el día previo a la aspiración folicular femenina y en 3 casos se utilizaron espermatozoides móviles criopreservados meses antes del procedimiento ICSI. Se cuantifico el número de pacientes en los que rescataron espermatozoides; y las tasas de fecundación y embarazo en los grupos de espermatozoides frescos y criopreservados. Resultados: En los 14 pacientes evaluados se recuperaron espermatozoides. En 3 casos se utilizaron espermatozoides congelados obtenidos de biopsias previas, y en 11 casos espermatozoides frescos para ICSI. Se obtuvieron 6 embarazos en el grupo de espermatozoides frescos y dos embarazos en el grupo de espermatozoides congelados. La tasa de fecundación en ambos grupos fue similar, 64,3 por ciento y 60,7 por ciento respectivamente. Conclusión: Nuestro trabajo demuestra que es posible obtener tasas de fecundación y embarazo semejantes con el uso de espermatozoides frescos y congelados obtenidos a partir de biopsias testiculares en pacientes azoospermicos. Recomendamos la criopreservación de espermatozoides testiculares cada vez que se realice una biopsia testicular y se encuentren espermatozoides, puesto que esto permitirá su uso posterior sin tener que someter al paciente a nuevas cirugías.
Objective: To report eight pregnancies obtained by intracitoplasmic sperm injection (ICSI) using fresh and frozen spermatozoa obtained by testicular sperm extraction (TESE) from 14 azoospermic patients. Patients and Methods: Fourteen azoospermic patients underwent TESE for ICSI. Eleven TESE were made the day previous the oocyte retrieval and three were made the previous months in association with sperm cryopreservation. We evaluated the fertilization and pregnancy rate in both groups: fresh and frozen spermatozoa. Results: Fertilization rate in both groups of patients was similar 64.3 percent and 60.7 percent respectively. Six pregnancies were obtained in patients with fresh spermatozoa and two in the frozen spermatozoa group. Conclusions: We demonstrate that is possible to obtain similar fertilization and pregnancy rates using fresh and frozen spermatozoa from TESE. To decrease the number of testicular biopsies and aborted ICSI cycles we recommend spermatozoa cryopreservation every time a diagnosis testicular biopsy is made in patients with azoospermia.