ABSTRACT
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH). Clinically, there are variants of CHH with hypo-/anosmia (Kalman syndrome) and normosmic hypogonadotropic hypogonadism. Given a growing list of gene mutations accounting for CHH, the application of next generation sequencing (NGS) comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. Biallelic mutations in GNRHR gene lead to the development of hypogonadotropic hypogonadism with normosmia. In this paper, we describe 16 patients with proven GnRH resistance and estimate the frequency of pathogenic variants in the GNRHR gene in the Russian population.
Subject(s)
Hypogonadism , Kallmann Syndrome , Gonadotropin-Releasing Hormone/genetics , Humans , Hypogonadism/diagnosis , Molecular Biology , Mutation , Receptors, LHRH/geneticsABSTRACT
Examinations of the hemostasis system parameters in patients with scleroderma, psoriatic arthritis, malignant lymphoma of the skin have revealed a significant elevation of fibrinogen concentration, acceleration of blood clotting time, increased prothrombin consumption in all the patients. Elevation of the prothrombin index was detected in the patients with scleroderma and psoriatic arthritis. A direct relationship between the disease severity, size of the involvement of the skin integument, inflammation activity in the joints, and severity of hemostasis impairment has been revealed.
Subject(s)
Hemostasis , Skin Diseases/blood , Adolescent , Adult , Arthritis, Psoriatic/blood , Female , Humans , Lymphoma/blood , Male , Middle Aged , Scleroderma, Localized/blood , Scleroderma, Systemic/blood , Skin Neoplasms/bloodSubject(s)
Blood Coagulation , Scleroderma, Localized/blood , Scleroderma, Systemic/blood , Adolescent , Adult , Female , Humans , Male , Middle AgedSubject(s)
Arthritis/diagnosis , Psoriasis/diagnosis , Adolescent , Adult , Aged , Arthritis/immunology , Arthrography , Female , Humans , Immunity, Innate , Male , Middle Aged , Psoriasis/immunologySubject(s)
Haemophilus influenzae/pathogenicity , Lung Diseases/etiology , Adult , Antigens, Bacterial/adverse effects , Bronchiectasis/etiology , Bronchitis/etiology , Child , Cross Reactions , Haemophilus Infections/etiology , Haemophilus influenzae/immunology , Humans , Lung/immunology , Pneumonia/etiologyABSTRACT
In sera of patients with acute leucosis the authors have determined antibodies to alpha-toxin, streptolysin-O, the complement, lysosyme. B-lysins and C-reactive protein. It was found that the indices of immune reactivity in patients with acute leucosis are dependent on a morphological variant of the disease, the duration of the conducted therapy and presence of complications. The most high immunity indices in patients with acute leucosis were observed in a primary active stage of the disease and during the period of remission. Considerable reduction of the immunity was noted in the terminal stage of the disease.
