A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low cortisol levels despite elevated adrenocorticotropin (ACTH). Mineralocorticoid secretion is classically normal. Clinical manifestations are secondary to low cortisol levels (recurrent hypoglycemia, chronic asthenia, failure to thrive, seizures) and high levels of ACTH (cutaneous-mucosal hyperpigmentation).

[Sentinel lymph node in pulmonary carcinoma. Molecular study after radioisotope detection].

Introduction: Metastatic lymph node affectation is the main prognostic factor in localized lung cancer. Pathological study of the obtained samples even after an adequate lymphadenectomy, present tumoral relapses of 40% of stage I patients after oncological curative surgery. In this paper we have studied micrometastasis in the sentinel lymph node by molecular methods in patients with stage I lung cancer.