Abstract
Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients. Because of the phenotypic heterogeneity, genetic diagnosis become increasingly valuable to distinguish KS from other disorders including normosmic congenital hypogonadotropic hypogonadism, constitutional delay of growth and puberty, CHARGE syndrome, and functional hypogonadotropic hypogonadism. Application of next-generation sequencing has promoted the discovery of novel pathogenic genes in KS pedigrees. Prenatal diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. However, pregnant women may suffer from physical and psychological distress when fetuses are diagnosed with congenital defects. Preimplantation genetic testing (PGT) is a prospective approach during the in vitro fertilization process that helps to interrupt transmission of hereditary diseases to offspring at an early stage. Thus, genetic testing and counseling are recommended to KS patients with family histories, prenatal diagnosis and PGT are considered to be useful options.
Highlights
Kallmann syndrome (KS) is a hereditary disease characterized by congenital hypogonadotropic hypogonadism (CHH) and hyposmia or anosmia
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a common disease with genetic and clinical heterogeneity, and KS is the main component of IGD
This review summarizes the advances in KS, especially its genetic diagnosis, and genetic interruption of KS in clinical settings
Summary
Kallmann syndrome (KS) is a hereditary disease characterized by congenital hypogonadotropic hypogonadism (CHH) and hyposmia or anosmia. Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a common disease with genetic and clinical heterogeneity, and KS is the main component of IGD. Diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. With the deepening of related research, advances have been made in explorations of molecular genetics in KS, especially after the invention of generation sequencing (NGS). The emergence of preimplantation genetic testing (PGT) has provided families affected by hereditary disorders (including KS) with an optional approach to have healthy offspring. This review summarizes the advances in KS, especially its genetic diagnosis, and genetic interruption of KS in clinical settings
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.