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...

MEN1 germline mutations are identified in 70% of the familial forms of MEN1 and about 10%of the sporadic cases. Little is known about clinical differences between MEN1 with and without identification of MEN1 germline mutation particularly in terms of PA characteristics.Aim: To compare the clinical features of PA in MEN1 cases with and without germline MEN1 mutation and sporadic cases of PA. Patients and methods: Data were obtained in...

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...

Case report: 24-year. old man presented with change in facial appearance and joint pain. His symptoms began at puberty with the thickening and folding of the skin on the forehead and scalp and thickening of his fingers. These changes progressed over the next 5 years with marked seborrhoea, hyperhidrosis and linear palmar–plantar keratosis. The lower legs and forearms are cylindrically thickened, hands and feet increased in size, the terminal phalanges of the fingers show ...