[On the problem of female infertility: A search for genetic markers].

In every one case out often, the reason behind female infertility turns out to be an orphan disease called 'hypogonadotropic hypogonadism', the single symptom of which is the reduced level of gonadotropins and, as a consequence, amenorrhea in females. Most often, hypogonadotropic hypogonadism is caused by disorder in secretion of gonadoliberin, the product of gene GNRH1. However, the disease is heterogeneous one, so it may origin from either genetic or non-genetic causes. To study the genetic component of the disease pathogenesis, we conducted molecular-genetic analysis of 11 gene-candidates controlling synthesis and secretion of gonadoliberin as well as several gene-candidates functioning as neurodevelopmental and neuroendocrine regulators. In the study participated a group of patients afflicted by hypogonadotropic hypogonadism of an isolated form (n = 10), and a control group of healthy women (n = 20). All women were of reproductive age, with no detected mutations in gene-candidates that could cause any pathological effect. The data on gene-candidates expression in white blood cells are indicative of an increased expression of gene GNRH1 in the sampled patients as compared to the control group (p < 0.05). Other genes demonstrate heterogeneous expression both in the patients group and the control group. Thus, increased expression of gene GNRH1 in blood cells appears to be associated with the isolated form of hypogonadotropic hypogonadism and, in prospect, may be used as one of the disease markers.

[Drug treatment for acromegaly: results of long-term use of Sandostatin LAR].

То evaluate the effectiveness and safety of drug treatment for acromegaly, the authors conducted an open-labeled prospective study of the impact of treatment with long-acting octreotide Sandostatm LAR) on the content of growth hormone (GH) and IRF-1 and on the size of a pituitary tumor. The study covered 40 patients (28 females and 12 males) aged 21 to 65 years (median 45 years) who had active acromegaly; 4 (10%) patients were diagnosed as having pituitary microadenoma; 36 (90%) had pituitary macroadenoma. Twenty-four patients received no therapy; 16 patients had tumors after their ineffective removal. All the patients took Sandostatin LAR, 20 mg intramuscularly, once every 28 days. The mean duration of treatment was 8.25 months (range: 3 to 12 months). Clinical and hormonal parameters were estimated 3, 6, and 12 months of treatment. A treatment-induced decrease in GH and/or insulin-like growth factor 1 (ILGF-1) by at least 30% of their baseline values considered effective. The state of a tumor was evaluated by brain magnetic resonance imaging in 26 patients. Three month following Sandostatin LAR treatment, the median concentration of GH significantly decreased from 33.5 to 5.55 ng/ ml (p < 0.001) and later on it remained nearly at this level (5.1 ng/ml and 5.35 ng/ml after 6 and 12 months, respectively). The concentrations of ILGF -1 similarly changed: its median was 779 ng/ml at baseline, 390 (p < 0.001), 390, and 330 ng/ml after 3, 6, and 12 months, respectively. Following 12 months of treatment, there were reductions in GH levels in 52.2% of the patients (including a < 2.5-ng/ml reduction in 33.3% of the patients) in the concentration of ILGF-1 by more than 50% of the baseline values in 49.9% (including a complete ILGF-1 concentration normalization in 33.3%). Twelve months after treatment, there was a reduction in the size of a tumor in 38.4% of the patients (by an average of41.25±7.22% of the baseline volume) and its growth stabilization in 59.1%. The findings suggest that treatment with Sandostatin LAR in a dose of 20 mg Is an effective and safe treatment, leads to a significant reduction in the values of GH and IL GF-1 just 3 months after treatment, and controls hormonal secretion and tumor growth in most patients with acromegaly.

[The specific features of the course of acromegaly in old age and possibilities of somatulin treatment].

Acromegaly is a severe neuroendocrine disease caused by chronic excessive production of growth hormone. There are 50-70 cases of this disease per 1 million people. In the vast majority of cases, the cause of the disease is a pituitary adenoma from somatotrophic cells. With the advent in clinical practice of prolonged analogues of somatostatin, endocrinologists have new therapeutic options. In the article we present a clinical case of the patient with the diagnosis: acromegaly, active form; Endosuprasellar pituitary adenoma (somatotropinoma); Hypopituitarism (secondary adrenal insufficiency, secondary hypothyroidism); Chronic pyelonephritis in the acute phase; Hypertension of the II stage, ischemic heart disease, angina pectoris II functional class; Common atherosclerosis with a primary lesion of the aorta, coronary vessels and cerebral vessels.