RESUMEN
The urinary steroid profile has been used in clinical endocrinology for the early detection of enzyme deficiencies. In the field of doping, its evaluation in urine samples is used to diagnose the abuse of substances prohibited in sport. This profile is influenced by sex, age, exercise, diet, and ethnicity, among others; laboratories own reference ranges might compensate for ethnic differences among population and inter-laboratory biases. This paper shows the reference ranges obtained in the Antidoping Laboratory of Havana for the following steroid profile parameters: ten androgens (testosterone, epitestosterone, androsterone, etiocholanolone, 5α-androstan-3α,17ß-diol, 5ß-androstan-3α,17ß-diol, dehydroepiandrosterone, epiandrosterone, 11ß-hydroxyandrosterone and 11ß-hydroxyetiocholanolone), three estrogens (estradiol, estriol and estrone), two pregnanes (pregnanediol and pregnanetriol) and two corticosteroids (cortisol and tetrahydrocortisol). The urine samples (male: n = 2454 and female: n = 1181) and data obtained are representative of population from Latin-American countries like Cuba, Venezuela, Mexico, Dominican Republic, Guatemala and Chile. Urine samples were prepared by solid-phase extraction followed by enzymatic hydrolysis and liquid-liquid extraction with an organic solvent in basic conditions. Trimethylsilyl derivatives were analyzed by gas chromatography coupled to mass spectrometry. Reference ranges were established for each sex, allowing the determination of abnormal profiles as a first diagnostic tool for the detection of the abuse of androgenic anabolic steroids. The comparison with the Caucasian population confirms that the urinary steroid profile is influenced by ethnicity.
Asunto(s)
Cromatografía de Gases y Espectrometría de Masas/métodos , Esteroides/orina , Detección de Abuso de Sustancias/métodos , Corticoesteroides/orina , Andrógenos/orina , Doping en los Deportes , Estrógenos/orina , Femenino , Cromatografía de Gases y Espectrometría de Masas/normas , Hispánicos o Latinos , Humanos , América Latina , Masculino , Pregnanodiol/orina , Pregnanotriol/orina , Valores de Referencia , Sensibilidad y Especificidad , Detección de Abuso de Sustancias/normasAsunto(s)
Calicreínas/orina , Adolescente , Corticoesteroides/orina , Adulto , Aldosterona/orina , Humanos , Potasio/orina , Sodio/orina , Factores de TiempoRESUMEN
A 14 4/12-year-old white girl, evaluated for progressive virilization and clitormegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.
Asunto(s)
Trastornos del Desarrollo Sexual , Adolescente , Corticoesteroides/sangre , Corticoesteroides/orina , Determinación de la Edad por el Esqueleto , Mapeo Cromosómico , Cromosomas Humanos 21-22 e Y , Clítoris/anomalías , Trastornos del Desarrollo Sexual/terapia , Estrógenos Conjugados (USP)/uso terapéutico , Femenino , Genitales Femeninos/ultraestructura , Gonadotropinas/sangre , Humanos , Histerectomía , Cariotipificación , Células Intersticiales del Testículo , Masculino , Conductos Paramesonéfricos/anatomía & histología , Fenotipo , Cromatina Sexual/análisis , Análisis para Determinación del Sexo , Testículo/anomalías , Testículo/ultraestructura , Testosterona/sangreRESUMEN
Normal infants exhibited circadian rhythmicity of plasma F concentration. Infants from 2.1 to 3.2 months of age had CSR significantly higher than those of older infants. THF/THE urinary excretion ratios increased with age. The 17OHCS excretion was higher in the younger infants. Urinary excretions of free corticoids and cortisol were similar in all age groups. In marasmus, plasma F concentrations in the morning and evening were significantly elevated. Normal diurnal variation returned following therapy. CSR and 17OHCS excretions were not different from age controls, but were significantly lower than size controls, THF/THE ratios, urinary excretion of free corticoids and cortisol were normal. In marasmic kwashiorkor, plasma F concentrations were significantly elevated in the morning and evening. There was a suggestive decrease with therapy. CSR was low before and after treatment. THF/THE ratios, urinary 17OHCS excretion, and urinary free corticoids and cortisol were not significantly different from infants matched for size or patients with marasmus.