La importancia del sexo fetal en la ecografía morfológica: genitales ambiguos y disgenesia gonadal mixta / The importance of fetal sex in morphological ultrasound: ambiguous genitalia and mixed gonadal dysgenesis

La identificación del sexo fetal forma parte de la ecografía de segundo trimestre. En ocasiones se presentan anomalías genitales que no permiten definirlo adecuadamente, lo que se conoce como genitales ambiguos. La importancia de los mismos se debe a su asociación con desórdenes del desarrollo sexual, patologías más complejas y graves. En la mayoría de casos el diagnóstico y el manejo es postnatal, estando bien establecido. El diagnóstico prenatal, en cambio, es poco frecuente, limitado y menos conocido. Presentamos el caso de una gestante de 20 años con el hallazgo de genitales ambiguos en semana 29 y posteriormente se diagnosticó de disgenesia gonadal mixta (AU)

Fetal sex identification is a well-established part of the second trimester ultrasound. Sometimes there are genital abnormalities that prevent proper identification, called ambiguous genitalia. Its importance is based on its association with development sex disorders, a far more severe and complex diseases. In most of the cases, diagnosis and management are postnatal and well systematized. Prenatal diagnosis, however, is less frequent and more limited. We present the case of a 20 year old pregnant with a finding of ambiguous genitalia at 29 week and a diagnosis of mixed gonadal dysgenesis (AU)

Do women with premenopausal-onset rheumatoid arthritis have relative insufficiency or imbalance of adrenocortical steroids?

Adrenocortical steroids may influence susceptibility to rheumatoid arthritis (RA). Serum levels of adrenocortical steroids in female RA patients not previously treated with glucocorticoids were reviewed in this paper, as were controlled cohort studies of predisease (pre-RA) and control (CN) women. Serum dehydroepiandrosterone sulfate (DHEAS) levels were lower in most reports of premenopausal-onset RA patients not treated with glucocorticoids and in the baseline levels in one cohort study of pre-RA females compared with CN subjects. The pre-RA versus CN cohort difference was confirmed in an independent laboratory. Basal DHEAS and cortisol levels correlated oppositely in pre-RA versus CN women, suggesting relative adrenocortical androgenic insufficiency in case subjects. Clinical observations of lower androstenedione levels in premenopausal RA patients were also reported in pre-RA versus CN subjects who had lower DHEAS and cortisol values. In summary, a minority of premenopausal-onset RA females had decreased adrenocortical androgenic steroid levels and exhibited an adrenal androgen-to-cortisol steroid imbalance.

Adrenocortical insufficiency.

Adrenocortical insufficiency causes difficulty in diagnosis and morbidity out of proportion to its rarity, because of the non-specific, multi-system nature of the clinical features. Most of these are due to cortisol deficiency. Prominent features are well-known ones such as weight loss and asthenia, and hypoglycaemia. Less prominent in recent accounts are those due to failure of cellular sodium export and to vasopressin excess, which are frequent and clinically significant. For this reason, the clinical features of isolated ACTH deficiency, isolated glucocorticoid deficiency and Addison's disease overlap greatly. In addition, cortisol deficiency has secondary endocrine effects, e.g. glucocorticoid-reversible hypothyroidism, hyperprolactinaemia and hypercalcaemia. Further overlap between the various steroid insufficiency syndromes occurs because of the association of various organ-specific autoimmune endocrinopathies with Addison's disease. Over 80% of Addison's disease is of the autoimmune type, though almost any systemic destructive process can cause similar steroid insufficiency. Demonstration of adrenal insufficiency requires various combinations of tetracosactrin adrenal stimulation tests, and hypoglycaemia or equivalent tests, if the cause is ACTH deficiency but the correct test can only be chosen to suit a firm clinical diagnosis. The treatment of adrenocortical insufficiency is described.