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.

Embarazos producto de inyección intracitoplasmática de espermatozoides testiculares frescos y congelados obtenidos de biopsia testicular / Pregnancies obtained by intracitoplasmatic sperm injection from fresh and frozen specimens retrieved with testicular biopsy

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.

Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.

Steroid 21-hydroxylase deficiency (21OHD) compromises about 95% of all cases of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 19 Chilean patients (12 females and 7 males) with the simple virilizing (SV) form of 21OHD and compared them with other SV-populations. Using allele-specific polymerase chain reaction, we identified lesions in 28 chromosomes out of 38 tested (73.7%). The most frequent finding was the mutation I173N=12/38 (31.6%) similar as described in Caucasian, Asian and other Hispanic populations, where this mutation represents around 20-40% of the genetic defects in the CYP21B gene. The mutation V282L=4/38 (10.5%) and deletion (Del) or large gene conversion (LGC)=3/38 (7.9%) were also frequently detected. Only 2 alleles carried the mutation I2 splice (5.3%), this frequency is lower than that reported in Caucasian or in Mexican populations. We did not find alleles with the mutations R357W, Cluster E6, P31L and P454S in these patients. The complete genotype was determined in 11/19 patients (58%) and one allele in 6/19 patients (31.6%). In summary, about 30% of the Chilean population with SV 21OHD presented the missense mutation I173N as described in other populations. The frequency of the other lesions showed differences even between populations with similar genetic background.

Estrogen levels in girls with premature thelarche compared with normal prepubertal girls as determined by an ultrasensitive recombinant cell bioassay.

OBJECTIVE: Estradiol levels in girls with premature thelarche have not previously been well defined because of the lack of adequate sensitivity of previously available estradiol assays. The ultrasensitive recombinant cell bioassay for estradiol has made the study of estradiol levels in premature thelarche possible. We hypothesized that girls with premature thelarche have higher estradiol levels than normal prepubertal girls. STUDY DESIGN: We used an ultrasensitive recombinant cell bioassay to study estradiol levels in 20 girls with premature thelarche and 15 normal prepubertal girls less than 3 years of age. The 2 groups were compared by Student t test. RESULTS: Estradiol levels were significantly greater in the girls with premature thelarche (8.4 4. 5 pmol/L estradiol equivalents) than in the normal prepubertal girls (3.3 3.5 pmol/L estradiol equivalents; P <.01). The estradiol level was not significantly correlated with age, height, weight, body mass index, age at onset of thelarche, or the presence or absence of ovarian cysts. CONCLUSION: Girls with premature thelarche have significantly higher estradiol levels than normal prepubertal girls. This is consistent with the hypothesis that the mechanism of premature thelarche involves increased estradiol levels rather than increased sensitivity of breast tissue to normal estradiol levels.

[Polycystic ovary syndrome: relationship of insulin tissular sensitivity, LH secretion and ovarian morphophysiologic changes]. / Síndrome de ovario poliquístico: relación entre sensibilidad tisular a la insulina, secreción de LH y cambios morfofuncionales ováricos.

BACKGROUND: Insulin resistance to LH hypersecretion are recognized features of polycystic ovary syndrome. Previous studies have suggested that both defects are independent from each other. AIM: To examine the relationship between insulin sensitivity and LH secretion in women with polycystic ovary syndrome. PATIENTS AND METHODS: Eighteen women with clinical and biochemical evidence of hyperandrogenism, normal oral glucose tolerance test and polycystic ovaries on ultrasonography, were studied. Insulin sensitivity was assessed using the insulin tolerance test. LH secretion was studied integrating LH values of blood samples taken every 10 minutes for 6 h. Testosterone, testosterone index, SHBG and IGFBP-1 were measured in three selected samples and ovarian volume was assessed by ultrasound. RESULTS: Insulin sensitivity ranged from 0.06 to 0.75 and the area under the curve for LH, from 532 to 8.517 IU/L/6 h. No correlation was found between these two parameters and between each parameter and ovarian volume or androgen concentration. Positive correlations were observed between insulin sensitivity and SHBG concentrations (r = 0.612 p < 0.01) and IGFBP-1 concentrations (r = 0.588 p < 0.001). When compared to patients body mass index of less than 30 kg/m2, patients with body mass index over 30 kg/m2 had significantly lower insulin sensitivity and higher LH levels. In the latter a positive correlation between insulin sensitivity and the area under the curve for LH was observed (r = 0.683 p < 0.02). CONCLUSIONS: Obese polycystic ovary syndrome patients exhibited an inverse correlation between insulin resistance and LH hypersecretion, suggesting a relationship between both defects.

[Ovarian cancer and dermatomyositis. A clinical case]. / Cáncer ovárico y dermatomiositis. Caso clínico.

Dermatomyositis (DM) is associated to malignant neoplasia in up to one third of the cases. Not considering breast neoplasia, ovarian cancer is the malignancy most frequently associated with DM in women. This study shows the evolution and outcome of a case of this association managed in our unit. The principal features of similar cases reported in the literature are summarized.

[Goiter and chronic lymphocytic thyroiditis]. / Bocio y tiroiditis linfocitaria crónica.

Sixty patients with goiter, aged 3 to 16 years, 58 girls, were studied for evidence of chronic lymphocytic thyroiditis (CLT). Thirty eight patients, 63%, presented two or more diagnostic elements of TLC, according to Fisher's criteria, with a high frequency of thyroid function involvement (47.4% had hypothyroidism and 18.4% had hyperthyroidism). The rest of the patients with diffuse goiter (37%) did not meet Fisher's criteria, they were mostly euthyroid (95%) and they were designated "non thyroiditis goiter". All patients with probable CLT had positive antimicrosomal antibodies at relatively high titer (greater than 1 x 600 in 71% of the cases) and 32% of them had both antimicrosomal and antithyroglobulin antibodies. In the "non thyroiditis goiter" group we found 28% of children with positive antimicrosomal antibodies at low titers (1 x 100 and 1 x 400, respectively). In a control group of 28 children of similar ages, without endocrine diseases neither familiar history of thyroid diseases only 3 (11%) cases showed positive antimicrosomal antibodies, always at low serum titers.