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
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Annales d'endocrinologie"
DOI: 10.1016/j.ando.2016.12.003
Abstract: OBJECTIVE The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS Magnetic resonance… read more here.
Keywords: bulb magnetic; reconsidering olfactory; kallmann syndrome; magnetic resonance ... See more keywords
Genetic spectrum of Kallmann syndrome: Single‐center experience and systematic review
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Endocrinology"
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
Anosmia with hypogonadism: but NOT Kallmann syndrome
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DOI: 10.1136/bcr-2017-220045
Abstract: A girl aged 16 years presented with primary amenorrhoea and absent secondary sexual characteristics. She had arhinia at birth and had undergone reconstruction twice in her childhood. Family history was unremarkable. On examination, she had… read more here.
Keywords: kallmann syndrome; hypogonadism kallmann; anosmia hypogonadism;
Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Endocrinology"
DOI: 10.1155/2022/2504660
Abstract: Background Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to the defective migration of gonadotropin-releasing hormone (GnRH) neurons. However, this disorder is clinically heterogeneous and the… read more here.
Keywords: functional characterization; novel variant; family; identification functional ... See more keywords
WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
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DOI: 10.15252/embr.201744632
Abstract: WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood. Here, we report that… read more here.
Keywords: hedgehog signalling; kallmann syndrome; ciliopathy; wdr11 ... See more keywords
Dynamic spectral signatures of mirror movements in the sensorimotor functional connectivity network of patients with Kallmann syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.971809
Abstract: In Kallmann syndrome (KS), the peculiar phenomenon of bimanual synkinesis or mirror movement (MM) has been associated with a spectral shift, from lower to higher frequencies, of the resting-state fMRI signal of the large-scale sensorimotor… read more here.
Keywords: connectivity; state; dynamic spectral; spectral power ... See more keywords
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome
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DOI: 10.3390/genes12060868
Abstract: Kallmann syndrome (KS) is a combination of isolated hypogonadotropic hypogonadism (IHH) with olfactory dysfunction, representing a heterogeneous disorder with a broad phenotypic spectrum. The genetic background of KS has not yet been fully established. This… read more here.
Keywords: kallmann syndrome; variability; gnrh neuron; migration ... See more keywords
A Sprouty4 Mutation Identified in Kallmann Syndrome Increases the Inhibitory Potency of the Protein towards FGF and Connected Processes
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DOI: 10.3390/ijms22042145
Abstract: Kallmann syndrome is the result of innate genetic defects in the fibroblast growth factor (FGF) regulated signaling network causing diminished signal transduction. One of the rare mutations associated with the syndrome alters the Sprouty (Spry)4… read more here.
Keywords: protein; kallmann syndrome; spry4 protein; sprouty4 mutation ... See more keywords