Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-019-01604-9
Abstract: To present the first case proposing the use of preimplantation genetic testing for monogeneic disorders for Kallmann syndrome, providing comprehensive care in the genomic era of precision medicine. Gonadotropin therapy was used for spermatogenesis, followed… read more here.
Keywords: kallmann syndrome; mutation; kallmann; cross generational ... See more keywords
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Hormones"
DOI: 10.1007/s42000-018-0061-1
Abstract: Dear Editor, Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare Mendelian disorder characterized by genetic and phenotypic heterogeneity. Apart from failure of sexual maturation and pubertal development (i.e., the normosmic form of idiopathic hypogonadotropic… read more here.
Keywords: kallmann; renal agenesis; kallmann syndrome; unilateral renal ... See more keywords
Genetic spectrum of Kallmann syndrome: Single‐center experience and systematic review
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DOI: 10.1111/cen.14822
Abstract: To study phenotype‐genotype data of Asian−Indian Kallmann syndrome (KS) from our center and systematically review the studies analyzing multiple congenital hypogonadotropic hypogonadism (CHH) genes in KS cohorts using next‐generation sequencing. read more here.
Keywords: genetic spectrum; center; spectrum kallmann; kallmann syndrome ... See more keywords