Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.

X-linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function.

[Chronic distress syndrome in patients with Graves' disease].

Purpose: Cross-sectional study to evaluate the psychological distress of patients with Graves' disease 5 years after diagnosis.

Patients And Methods: 45 female patients being treated for Graves' disease in a specialized endocrinological practice in Wuppertal, Germany, were asked to fill in the Symptom Checklist-90-R (SCL-90-R) and the Hospital Anxiety and Depression Scale (HADS). All patients were in a euthyroid state for at least 6 months.

Ganglioglioma of the neurohypophysis with secretion of vasopressin.

A patient with a ganglioglioma of the neurohypophysis developed the syndrome of inappropriate antidiuretic hormone secretion (SIADH). We present the case and describe its microscopic and ultrastructural features. Malignant neoplasms were thought to be the main cause of ectopic production of vasopressin.