Hiperplasia suprarrenal congénita: diagnóstico prenatal y tratamiento in útero / Congenital adrenal hyperplasia: prenatal diagnosis and treatment in utero

La hiperplasia suprarrenal congénita (HSG) puede ocasionar virilización de los genitales externos en casos de fetos se sexo femenino, con el consiguiente problema de resolución quirúrgica (clitoridectomía, neo-vagina) y trastornos neurosiquiátricos. El tratamiento con dexametasona a la madre con antecedentes de hijos portadores de la enfermedad puede evitar o disminuir los casos de virilización hasta en un 75 por ciento. Se describe el tratamiento y estudio de una paciente controlada en la maternidad del Hospital Dr. Sótero del Río, tratada con dexametasona desde las 8 1/2 semanas de gestación. Dado que cariograma en líquido amniótico realizado a las 16 semanas demuestra un feto de sexo femenino, se mantiene el tratamiento hasta el término, lográndose un recién nacido de sexo femenino sano, portador de HSG severa, sin virilización. Por el éxito del tratamiento, preconizamos el intento de diagnóstico prenatal y tratamiento de todo feto de sexo femenino, con antecedentes de hermanos portadores de HSG neonatal

Diagnóstico molecular de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa, variedad perdedora de sal, en población chilena / Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population

Twenty five patients with salt wasting congenital adrenal hyperplasia, that had 17-hydroxyprogesterone levels above 30 ng/ml, were studied. In all patients, a polymerase chain reaction (PCR) with selective primers was done with extracted genomic DNA, to amplify the active gene and specific primers for normal or mutated alleles of 50 chromosomes of the 25 patients. The higher frequency affected the ASIn2 in 26 percent of cases, followed by mutations Arg357Trp in 22 percent of cases and Gln319Stop in 12 percent and deletion in 12 percent. The frequent genotypes were homozygosity for ASIn2 (16 percent), homozygosity for Arg357Trp (12 percent) and the homozygote deletion of the gene in 12 percent. The most frequent mechanisms of genetic deficiency of 21-hydroxylase were the mutations ASIn2 Arg357Trp. This type of studies allows prenatal diagnosis and genetics counseling

Retardo puberal e hipogonadismo hipogonadotrófico: diagnóstico diferencial con la prueba de estimulación de prolactina con clorpromazina / Puberal delayed and hypogonadotrophic hypogonadism: differential diagnosis by prolactine stimulation with chlorpromazine test

We studied the changes in plasma levels of prolactin after an intramuscular injection of 0,33 mg/kg chlorpromazine and changes in plasma levels of LH and FSH after the injection of 100 µg iv GnRH in 16 patients with constitutional delayed puberty, 10 patients with hypogonadotrophic hypogonadism and 6 healthy controls. Prolactin response was significantly lower in patients with hypogonadotrophic hypogonadism compared to subjects with constitutional delayed and healthy controls ( prolactin 7.05ñ1.7, 28.9ñ2.7 and 22.0ñ3.4 ng/ml respectively). LH response to GnRH was also lower in patients with hypogonadotrophic hypogonadism, compared to the other groups ( LH 4.3ñ2.5, 13.4ñ5.4 and 17.2ñ4.8 mUI/ml respectively) however, there was a great overlapping of values. No differences between groups were observed in responses of FSH, testosterone and estrogens to GnRH. It is concluded that prolactin response to chlorpromazine is useful in the differential diagnosis of constitutional delayed puberty