ABSTRACT
Introducción: La hiperplasia suprarrenal congénita se caracteriza por la alteración en la biosíntesis de los corticoides suprarrenales, conllevando presentaciones clínicas variables que van desde formas leves hasta formas potencialmente mortales. Es la enfermedad endocrinológica más común, tiene una incidencia de 1/10.000 casos por año, el abordaje diagnóstico incluye cariotipo, electrolitos, niveles de 17-hidroxiprogesterona, testosterona, progesterona, ecografía pélvica en niñas y la confirmación se realiza con estudio molecular, el tratamiento se basa principalmente en la suplencia hormonal deficiente. Caso clínico: Paciente masculino con antecedente de hospitalización en su etapa neonatal por cuadro de deshidratación, fallo en el medro, hiponatremia, hiperkalemia y macropene, reporte de 17-OH progesterona de más de 2000 ng /dl considerándose hiperplasia suprarrenal congénita, iniciando tratamiento con hidrocortisona y fludrocortisona. Ingreso a los 8 años 6 meses con acné, acantosis nigricans, testículos aumentados de tamaño, macropene y edad ósea adelantada, se hizo la confirmación con estudio molecular que reportó variantes en 655G del intrón 2 (variante que afecta el procesamiento del RNA mensajero) en su alelo materno, y la doble mutación Val281Leu+360 insT (variante de inserción que produce un desplazamiento de la fase de lectura) localizada en el exón 7, en su alelo paterno. Conclusión: a pesar de que es una enfermedad de baja frecuencia puede generar una gran morbimortalidad en cualquier etapa de la vida por eso la importancia de tener sensibilidad sobre la enfermedad para sospecharla y así mejorar la calidad y pronóstico de los pacientes que la padecen. (provisto por Infomedic International)
Introduction: Congenital adrenal hyperplasia is characterized by altered adrenal corticosteroid biosynthesis, leading to variable clinical presentations ranging from mild to life-threatening forms. It is the most common endocrinological disease, with an incidence of 1/10,000 cases per year, the diagnostic approach includes karyotype, electrolytes, levels of 17-hydroxyprogesterone, testosterone, progesterone, pelvic ultrasound in girls and confirmation is performed with molecular study, treatment is based mainly on deficient hormone replacement. Clinical case: Male patient with a history of hospitalization in his neonatal stage due to dehydration, failure in the medro, hyponatremia, hyperkalemia and macropenis, report of 17-OH progesterone of more than 2000 ng / dl being considered congenital adrenal hyperplasia, initiating treatment with hydrocortisone and fludrocortisone. Admission at 8 years 6 months with acne, acanthosis nigricans, enlarged testicles, macropenis and advanced bone age, confirmation was made with molecular study that reported variants in 655G of intron 2 (variant that affects the processing of messenger RNA) in his maternal allele, and the double mutation Val281Leu+360 insT (insertion variant that produces a displacement of the reading phase) located in exon 7, in his paternal allele. Conclusion: although it is a low frequency disease, it can generate a great morbimortality at any stage of life, that is why it is important to be aware of the disease in order to suspect it and thus improve the quality and prognosis of the patients who suffer from it. (provided by Infomedic International)
ABSTRACT
INTRODUCTION: The finding of biological markers of specific language impairment would facilitate their detection and early intervention. In this sense, the 2D:4D finger ratio is considered an indirect indicator of prenatal exposure to testosterone. Previous studies have related it to linguistic competence and aggressive behaviour, and could be a candidate for a biological marker of language impairment. The aim was to compare the value of the 2D:4D ratio in children with Specific Language Impairment (SLI) with those of children with typical language development, as well as to establish to what extent this biological index correlates with the behaviour (linguistic, cognitive, social,...) in both groups. SUBJECTS AND METHODS: 2D:4D ratio, language, cognition and social behaviour were compared in a group of children with SLI (n=15), with a group of children without language difficulties (n=16) of the same age (between 5-8 years), gender (male), and socio-cultural level. RESULTS: Children with SLI showed significantly higher values of 2D:4D ratio of the right hand, and a negative correlation between this ratio and their linguistic competence. Although the children with SLI showed impaired adaptive abilities, but not more aggressive behaviour, these measurements did not correlate with the 2D:4D index. Nevertheless, social behaviour correlated with language and cognition competence. CONCLUSIONS: A higher value of the biological 2D:4D ration (lower intrauterine exposure to testosterone) seems to be associated with language difficulties in boys with SLI, but not with their behavioural difficulties. Their behavioural difficulties seem to be a consequence of their linguistic difficulties and their level of cognition.
Subject(s)
Fingers/anatomy & histology , Language Development Disorders/diagnosis , Prenatal Exposure Delayed Effects/diagnosis , Testosterone/administration & dosage , Adolescent , Biomarkers/metabolism , Case-Control Studies , Child , Child, Preschool , Cognition/physiology , Female , Humans , Language Development Disorders/etiology , Male , Pregnancy , Social BehaviorABSTRACT
En esta revisión se examinan reportes empíricos y teóricos que indagan sobre las causas de la homosexualidad masculina. Con base en ellos se establece que la homosexualidad masculina difiere de la femenina en algunos aspectos. Adicionalmente, se muestra evidencia suficiente para considerar la homosexualidad masculina como una condición biológica: existen diferencias cerebrales entre hombres gais y hombres heterosexuales, factores genéticos y prenatales asociados con la homosexualidad, diferencias cognitivas y comportamentales, modelos animales para estudiar la homosexualidad; por último, no se ha encontrado evidencia de factores psicosociales asociados con la condición de homosexualidad en los hombres.
In this paper, empirical and theoretical reports which question the causes ofmale homosexuality are examined. According to these reports, male homosexuality differs from female homosexuality in some respects. Additionally, evidence favouring the consideration of male homosexuality as a biological condition is shown: there are brain differences between gay men and heterosexual men, there are genetic and perinatal factors associated to malehomosexuality, there are cognitive and behavioral differences between gayand heterosexual men, there are animal models for studying homosexuality;finally, there are negative findings concerning the psychosocial factorsassociated to male homosexuality.
