Open AccessClinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in <i>GNRHR</i> genes
Author(s) -
Nina Makretskaya,
М. В. Герасимова,
Evgeny Vasilyev,
N. V. Zubkova,
Natalia Kalinchenko,
А. А. Колодкина,
В. М. Петров,
T.V. Pogoda,
Alexandra V. Panova,
Elena Frolova,
А. В. Поляков,
Анатолий Николаевич Тюльпаков
Publication year - 2021
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl12746
Subject(s) - gnrhr , hypogonadotropic hypogonadism , anosmia , kallmann syndrome , gene , genetics , biology , population , medicine , endocrinology , gonadotropin releasing hormone , hormone , luteinizing hormone , disease , environmental health , covid-19 , infectious disease (medical specialty)
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.