Estudio preliminar sobre el tratamiento con hormona de crecimiento humana recombinante en el síndrome de Turner / Preliminary study on the recombinant human growth hormone treatment of Turner's syndrome

Introducción: los pacientes con síndrome de Turner presentan una monosomía parcial o total del gonosoma X, disgenesia gonadal, diversos rasgos físicos típicos, baja talla e infantilismo sexual. Objetivo: evaluar el efecto del tratamiento con hormona de crecimiento recombinante sobre la talla en las pacientes con el diagnóstico clínico y cromosómico de síndrome de Turner. Métodos: se realizó un estudio de tipo descriptivo y retrospectivo a pacientes con síndrome de Turner atendidas en consultas externas en el Departamento de Endocrinología Pediátrica del Instituto Nacional de Endocrinología, desde mayo de 2003 hasta mayo de 2004. La muestra estuvo constituida por 19 niñas. Se confeccionaron dos grupos, uno con aquellas pacientes que recibieron tratamiento con hormona de crecimiento recombinante (n= 9) a una dosis de 0,14 UI/kg/día, administrada vía subcutánea entre las 8:30 y 9:30 pm, que se conoció como grupo A. El segundo quedó conformado con las pacientes que no recibieron dicha hormona (n= 10), denominado grupo B. Los datos necesarios para la investigación fueron obtenidos de la revisión de las historias clínicas. Resultados: un incremento de la talla en el grupo A, que inició el estudio con una talla basal media de 131,7 ± 7,5 cm, para alcanzar una talla media, después de un año de tratamiento, de 137,9 ± 7,1 cm, con una velocidad de crecimiento media en ese año de 6,2 ± 2,3 cm/año. La comparación de ambos grupos después de un año de estudio mostró diferencias significativas en la talla media al año (p= 0,0071) y la velocidad de crecimiento media al año (p= 0,0032). Conclusiones: el tratamiento con hormona de crecimiento recombinante durante el primer año resultó efectivo, al acelerar significativamente la velocidad de crecimiento en las niñas con síndrome de Turner. La ganancia de peso corporal resultó adecuada durante el periodo de estudio, pues se logró mantener una valoración nutricional estable sin modificaciones en el canal percentilar. La inducción de la pubertad no cambió el pronóstico de la talla al final del estudio(AU)

Introduction: Turner's syndrome patients present with total or partial monosomy of X gonosome, general disgenesia, several typical physical traits, short height and sexual infantilism. Objective: to evaluate the effect of recombinant human growth hormone-based treatment on the height of patients clinically and chromosomally diagnosed as Turner's syndrome subjects. Methods: a retrospective and descriptive study was conducted in Turner's syndrome patients, who had been seen from May 2003 to May 2004 at the pediatric endocrinology department of the National Institute of Endocrinology. The sample was made up of 19 girls divided into 2 groups. Group A comprised patients who were treated with recombinant human growth hormone (n= 9) at a dose of 0.14 IU/kg/day subcutaneously administered from 8:30 to 9:30 pm. Group B included the patients who did not receive this treatment (n= 10). The required data for the research stemmed from the medical history check-ups. Results: increase of the Group A patients' height, whose mean basal height at the beginning of the study was just 131.7 ± 7.5 cm and after one year of treatment, they reached 137.9 ± 7.1 cm, at a rate of average growth of 6.2 ± 2.3 cm/year. The comparison of both groups after one year showed significant differences in mean height (p= 0.0071) and mean growth a year (p= 0.0032). Conclusions: the treatment of these patients with the recombinant growth hormone during the first year was effective, since it markedly accelerated the rate of growth in girls with Turner's syndrome. The body weight gain proved to be adequate in the study period, because it managed to keep steady nutritional assessment without changes in the percentile canal. Inducement to puberty did not alter the final height prognosis at the end of the study(AU)

Hypogonadism in a patient with two novel mutations of the luteinizing hormone ß-subunit gene expressed in a compound heterozygous form.

CONTEXT: LH gene mutations are rare; only four mutations have been described. The affected individuals are hypogonadal. PATIENT: We describe the clinical features of a 31-yr-old man who presented with delayed puberty and azoospermia and was found to have hypogonadism associated with an absence of circulating LH. MAIN OUTCOME MEASURES AND RESULTS: The patient had a 12-bp deletion in exon 2 in the LH ß-subunit gene and a mutation of the 5' splice site IVS2+1G→T in the same gene present in a compound heterozygous state. The first mutation predicts a deletion of four leucines of the hydrophobic core of the signal peptide. The second mutation disrupts the splicing of mRNA, generating a gross abnormality in the processing. The patient's heterozygous parents were clinically normal. The phenotype of a 16-yr-old sister of the proband, carrying the same mutations, was characterized by normal pubertal development and oligomenorrhea. CONCLUSION: This report unravels two novel mutations of the LH gene critical for synthesis and activity of the LH molecule. The insight gained from the study is that normal pubertal maturation in women can occur in a state of LH deficiency, whereas LH is essential for maturation of Leydig cells and thus steroidogenesis, puberty, and spermatogenesis in man. These mutations should be considered in girls and boys with selective deficiency of LH.

17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report.

The differential diagnosis of hypertension associated with hypokalemia in infancy and adolescence should necessarily include deficiency of the 17alpha-hydroxylase enzyme, a rare form of congenital adrenal hyperplasia (CAH). In addition to hypertension, the classic syndrome caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some population groups. This is a case report on two sisters followed up at the Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), who were both found to have the 46,XY genotype with homozygosis for W406R, exon 7 of the CYP17 gene (OMIM 202110). The condition was diagnosed only at puberty when hypergonadotropic hypogonadism resulted in sexual infantilism; however, arterial hypertension had been present since infancy and late diagnosis and lack of timely adequate treatment resulted in complications.