Quimerismo hemático en gemelos dicigóticos concebidos por fertilización in vitro / Blood cell chimerism in dizygotic twins conceived by in vitro fertilization

Presentamos 2 gemelos (niño y niña) concebidos tras fertilización in vitro (FIV). A los 8 años se efectuó cariotipo en sangre a la niña por clitoromegalia. Se detectaron 2 líneas diferentes: 46, XX (53%) y 46, XY (47%). Los estudios de FISH confirmaron la presencia del gen SRY en las células 46, XY. El cariotipo en sangre en el niño mostró, asimismo, 2 líneas diferentes: 46, XY (58%) y 46, XX (42%) con SRY presente en las células 46, XY.El análisis de microsatélites de ADN sanguíneo reveló contribución tetraalélica de algunos loci autosómicos con proporción similar de alelos maternos y paternos, y dosis cromosómica X/Y sugerente de proporción idéntica de células sanguíneas nucleoladas quiméricas. La realización de FISH con sondas X/Y en mucosa bucal evidenció que todas las células de la niña eran 46, XX y, 46, XY, las del niño. El cariotipo gonadal fue 46, XX sin presencia de SRY. El quimerismo 46, XX/46, XY estaba limitado a las células hemáticas (AU)

We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46, XX (53%) and 46, XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46, XY cells. Karyotyping of the male showed two different lines: 46, XY (58%) and 46, XX (42%). SRY gene was present in 46, XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomalloci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46, XX and those from the male 46, XY. The gonadal karyotype in the female was 46, XX without SRY. Hence, we report 46, XX/46, XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients (AU)

Hiperostosis cortical neonatal (enfermedad de Caffey) / Neonatal cortical hyperostosis (Caffey disease)

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[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization]. / Quimerismo hemático en gemelos dicigóticos concebidos por fertilización in vitro.

We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46,XX (53%) and 46,XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46,XY cells. Karyotyping of the male showed two different lines: 46,XY (58%) and 46,XX (42%). SRY gene was present in 46,XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46,XX and those from the male 46,XY. The gonadal karyotype in the female was 46,XX without SRY. Hence, we report 46,XX/46,XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients.

Talla baja idiopática. Revisión y puesta al día / Idiopathic short stature. A literature review and update

Con la denominación de talla baja idiopática (TBI) se agrupan una serie de entidades clínicas de etiología desconocida que tienen en común un retraso crónico de crecimiento con talla inferior a −2 desviaciones estándar (DE), con preservación de la armonía entre los segmentos corporales y en las que, en su evolución espontánea, las expectativas de talla adulta son inferiores a −2 DE. Es un diagnóstico de exclusión que exige una evaluación clínica, bioquímica, hormonal y molecular minuciosa con el objetivo de descartar cualquier etiología conocida del retraso de crecimiento, especialmente el retraso constitucional del crecimiento y desarrollo (RCCD). La TBI es un diagnóstico frecuente entre los pacientes que consultan por retraso de crecimiento, existiendo lagunas y controversias sobre su abordaje diagnóstico y terapéutico. Este documento de consenso recoge información actualizada sobre la definición, diagnóstico y tratamiento de la TBI, y aporta datos y recomendaciones que no han sido contemplados en documentos anteriores (AU)

Idiopathic short stature (ISS) refers to all clinical conditions involving an alteration of growth (height <−2 SD) of unknown cause, with preservation of proportionality among body segments, with the expectation of adult height < −2 SDS, and in which a diagnosis of constitutional delay of growth and development has been previously ruled out. ISS is an exclusion diagnostic which requires clinical, biochemical, hormonal and molecular studies in order to rule out all known causes of growth retardation and short stature.ISS is a frequent diagnosis among children with short stature. Despite its frequency, there is still controversy on the best diagnostic and therapeutic approach when treating patients with ISS. This consensus document contains updated information on the definition, diagnosis and treatment of ISS, and provides new data and recommendations that have not been addressed in previous documents (AU)

[Idiopathic short stature. A literature review and update]. / Talla baja idiopática. Revisión y puesta al día.

Idiopathic short stature (ISS) refers to all clinical conditions involving an alteration of growth (height<-2 SD) of unknown cause, with preservation of proportionality among body segments, with the expectation of adult height < -2 SDS, and in which a diagnosis of constitutional delay of growth and development has been previously ruled out. ISS is an exclusion diagnostic which requires clinical, biochemical, hormonal and molecular studies in order to rule out all known causes of growth retardation and short stature. ISS is a frequent diagnosis among children with short stature. Despite its frequency, there is still controversy on the best diagnostic and therapeutic approach when treating patients with ISS. This consensus document contains updated information on the definition, diagnosis and treatment of ISS, and provides new data and recommendations that have not been addressed in previous documents.

Diagnostic value of serological markers for celiac disease in diabetic children and adolescents.

OBJECTIVE: To determine the accuracy of antigliadin and antiendomysium antibodies for the diagnosis of celiac disease in diabetic children and adolescents with and without digestive symptoms. STUDY DESIGN: 177 children and adolescents with IDDM aged 15.4 +/- 5.4 years (mean +/- SD). Antigliadin (ELISA) and antiendomysium (IFI) antibodies were measured in 177 and 35 patients, respectively. RESULTS: Seven of 177 patients (3.9%; 95% confidence interval: 1.1-6.7) had celiac disease. The specificities of antiendomysium antibodies test (83%), IgA-antigliadin antibodies test (80%) and IgG-antigliadin antibodies test (90%) and the positive predictive values of these antibodies (55-75%) were lower than those obtained with the combined determination of these antibodies (100%). Negative antibodies and normal mucosa in one determination did not rule out the development of celiac disease later. CONCLUSIONS: The combined determination of antigliadin and antiendomysium antibodies is the test of choice in screening for celiac disease in diabetic patients. The yearly investigation of these antibodies is a reliable method for detecting silent celiac disease in this population.

Growth hormone therapy with three dosage regimens in children with idiopathic short stature. European Study Group Participating Investigators.

OBJECTIVE: In children with idiopathic short stature (ISS) we studied the growth-promoting effect at 4 years of recombinant human growth hormone (rhGH) therapy in three dose regimens and evaluated whether increasing the dosage after the first year could prevent a decline in height velocity (HV). DESIGN: Included were 223 patients who were treated with subcutaneous administrations of rhGH 6 days per week. They were randomized to three groups: 3 IU/m2 body surface/day, 4.5 IU/m2/day, and 3 IU/m2/day during the first year and 4.5 IU/m2/day thereafter, corresponding with dosages of 0.2 and 0.3 mg/kg body weight/week, respectively. Growth was compared with a standard of 229 untreated children with ISS [ISS standard]. RESULTS: During the first year of treatment HV almost doubled and was higher with 4.5 IU/m2 than with 3 IU/m2. In the second year HV no longer differed among the groups, but increasing the dosage slowed the rate of the fall of HV. During 4 years of therapy the height SD score for age increased by a mean (SD) of 2.5 (1.0) [ISS standards], or 1.2 (0.7) (British standards), bone age increased by 4.8 (1.3) years, and predicted adult height SD score increased by 1.5 (0.7). After 4 years the results of the group with 4.5 IU/m2 were slightly better than those of the other groups. When dropouts were included in the analysis (assuming a stable height SD score after discontinuation of rhGH therapy), height gain was still significant. CONCLUSIONS: During 4 years of rhGH therapy, growth and final height prognosis improved, slightly more with 4.5 IU/m2 than with 3 IU/m2 or 3 to 4.5 IU/m2. However, bone age advanced on average 4.8 years during this period; therefore, any effect on final height will probably be modest.

Male gonadal function after chemotherapy in survivors of childhood malignancy.

Investigations of adult patients have shown that chemotherapy causes gonadal damage, but much less information is available about the impact of chemotherapy on gonadal function in children with malignant disease. At one time, being prepubertal during therapy was thought to confer some protection against chemotherapy induced gonadal damage. However, recent studies have indicated otherwise. We designed this study to assess gonadal function in 15 postpubertal males who had received polychemotherapy for a malignant disease during childhood and we compared them with 13 control adults males. The mean age of the patients at the time of the study was 18.2 +/- 3.6 years (range 13.8-29.0), and when given chemotherapy treatment was 10.2 +/- 3.0 years (range 6-16). At that time 12 were prepubertal and at the time of the study all were Tanner V. The mean interval from the completion of treatment until the study was 6.42 years (range 2.0-16.5). All patients had received polychemotherapy. We evaluated testicular size, sperm counts, LH and FSH after GnRH test, and testosterone levels. Puberty had progressed normally in all patients. We found no significant differences in testosterone and basal LH levels between patients and controls. However, we detected an appreciable difference in peak LH levels (P < 0.05) and in basal and peak FSH levels (P < 0.001). Seven patients had exaggerated LH response to GnRH, indicating dysfunction of the Leydig cells. The results of semen analyses were: 8 patients had azoospermia, 3 oligospermia, and 1 patient had a normal semen analysis. All patients with semen abnormalities presented a basal and peak FSH higher than the mean +2 SD of the control group. In summary, we found no evidence of gonadal protection in prepubertal patients. We found a high incidence of germinal cell damage, whereas Leydig cell abnormalities were found less often. An endocrine study of patients that have received chemotherapy is warranted.

[Turner's syndrome (author's transl)]. / Síndrome de Turner. Revisión a proposito de 20 casos.

Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.

[Diabetes insipidus in infancy. II. Study of eleven cases (author's transl)]. / Diabetes insípida en la infancia. II. Casuística

Eleven cases of diabetes insipidus are revised and distributed in the following four groups: I. Idiopathic diabetes insipidus, three. II. Secondary diabetes insipidus, four. III. Nephrogenic diabetes insipidus, two. IV. Psychogenic diabetes insipidus, two. In all these cases, clinical parameters, general analysis, hydric metabolism (static and dinamic), are studied. The precocious beginning of psychogenic diabetes insipidus, and some conclusions, on a difficult case of hard diagnosis are emphasized.

[Diabetes insipidus in infancy. I. Review (author's transl)]. / Diabetes insípida en la infancia. I. Revisión

Diabetes insipidus and its' treatment, are revised. New pathogenic concepts stressing the roll of osmoreceptors in its' etiological causes are explained. In the diagnosis, great importance is given to recently sistematized proof by Miller-Moses. This allows, to evaluate the grade of deficiency in vasopressin as well as new therapeutic possibilities, using differents drugs other from the classical "oily" solution of vasopressin.