A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad014
Abstract: Isolated hypogonadotropic hypogonadism (IHH) is a rare disease with hypogonadism and infertility caused by the defects in embryonic migration of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, hypothalamic GnRH secretion or GnRH signal transduction. PROKR2 gene, encoding… read more here.
Keywords: prokr2 mutations; isolated hypogonadotropic; hypogonadotropic hypogonadism; prokr2 ... See more keywords
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sign Up to like & getrecommendations! Published in 2022 at "Endocrine journal"
DOI: 10.1507/endocrj.ej21-0779
Abstract: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) deficiency and sexual immaturity. CHH may accompany an abnormal sense of smell (Kallmann syndrome, KS) or no such manifestation (normosmic-CHH). This unusual… read more here.
Keywords: biallelic prokr2; prokr2; chh; prokr2 variants ... See more keywords
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1132787
Abstract: Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration.… read more here.
Keywords: genotypic landscape; prokr2; phenotypic genotypic; prokr2 neuroendocrine ... See more keywords