Síndrome de Turner: crecimiento y descripción clínica en 83 niñas chilenas / Spontaneous growth of 83 chilean girls with Turnerïs syndrome

Background: Short stature is the main feature of patients with Turner's syndrome. There is limited information regarding the spontaneous growth of these patients in Chile. Aim: To develop a specific growth chart for Chilean patients with Turner's syndrome. Material and methods: We retrospectively analyzed 668 height measurements from 85 Chilean girls, born after 1968, with 45XO karyotype (minimum 15 percent), and without an Y chromosome fragment. Patients with hormonal therapy, such as growth hormone or estrogen, except thyroid hormone replacement, were excluded. Results: The karyotypes were 60 percent 45XO, 25 percent 45XO, 46XX, and 15 percent other complex mosaics. The birth length was 46.8 ñ 2.1 cm. The final height of our patients was 138,20 ñ 7,0 cm. Conclusions: The final height achieved by our patients, is similar to Argentinian and Japanese patients, but is below the mean stature reported for Scandinavian and Northamerican patients who achieve a mean adult height of approximately 147 and 142 cm respectively. The birth length is also lower than that reported in those studies

Estudio clínico molecular de pacientes chilenas con síndrome de McCune-Albright / Clinical and molecular study of Chilean patients with McCune-Albright Syndrome

Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70 per cent of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells

Hirsutismo en niñas adolescentes: estudio clínico y de laboratorio / Hirsutism in adolescent girls

Se estudiaron prospectivamente 14 niñas con hirsutismo, entre los 12,5 y 16 años de edad, normotensas, de peso corporal normal, sin tumores, afecciones ováricas primarias o hiperplasia suprarrenal clásica. El hirsutismo se calificó según Ferriman. Se hicieron determinaciones basales de 17 ketosteroides, 17 hidroxicorticoides, pregnanetriol y dehidroespiandrosterona en orina de 24 horas, así como de LH, FSH, testosterona, cortisol (F), 17-hidroxiprogesterona (17-OHP), dehidroepiandrosterona-sulfato (DHEA-S) en plasma, mediciones de las tres últimas 60 min después de inyectar por vía endovenosa 0,25 mg de corticotrofina de acción rápida y ultrasonografía ovárica. De acuerdo al cuadro clínico y de laboratorio dos de las pacientes eran probables portadoras heterozigotas del gen de deficiencia de 21 hidroxilasa, nueve sin trastornos menstruales tenían DHEA-S basal elevada (promedio 8.289, márgenes 4.750 a 14.800 ng/ml) como único hallazgo de laboratorio y su hirsutismo era, por lo tanto, de etiología probablemente suprarrenal, estando aún en estudio para el diagnóstico definitivo. Finalmente, las otras tres pacientes tienen hirsutismo idiopático. Las dos niñas probablemente portadoras heterozigotas del gen de deficiencia de la 21-OH y cinco de las que tenían la DHEA-S elevada, fueron tratadas con dexametasona, con normalización de la DHEA-S, mejoría del aspecto ecográfico ovárico y del hirsutismo