Endocrine Abstracts

Water intake in central diabetes insipidus (CDI) usually falls in range of 3–20 l a day. Intake of more than 20 l is regarded as physiologically unnecessarily even in the absence of antidiuretic hormone. We describe a family with 8 members suffering from autosomal recessive form of CDI due to mutation C105Y (codon numeration is given for preprovasopressin) in AVP gene. In all family members disease had presented in neonatal period or early childhood. It is remarkable that...

A 53-year-old man with acromegaly was referred for neurosurgical treatment. At admission: GH 240 ME/l at all time points of glucose tolerance test, IGF1 – 415.1 ng/ml, brain MRI showed pituitary adenoma 34×32×27 mm extending suprasellar, deforming and displacing optic chiasm, parasellar to both cavernous sinuses and surrounding left internal carotid artery. Clinical blood tests revealed marked erythrocytosis – 6.1×1012, Hb – 200 g/l, HC...

We describe a clinical case of the patient with the syndrome of partial resistance to androgens. The patient, a man 25 years old, complained of a barren marriage. Lab and clinical findings included high gonadotropin and testosterone levels, hypogonadal appearance, coronal hypospadias, left-sided varicocele, oligoastenotheratozoospermia. The results of cytogenetic analysis showed a normal male karyotype (46, XY). Molecular genetic studies identified mutation in exon 1 of androg...