Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

Georgopoulos, Neoklis A.; Koika, Vasiliki; Varnavas, Petros; Efthymiadou, Alexandra; Marioli, Dimitra; Mantagos, Stefanos; Chrysis, Dionysios

doi:10.1038/aja.2008.24

Cited by 4 publications

(1 citation statement)

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“…We have previously reported the prepubertal diagnosis of KS in a male patient with URA, who carried a mutation in the gene of anosmin 1- ANOS1 , previously known as kallmann-1 ( KALI ) 3 , whereas other non-reproductive IGD features have been utilized for an early KS diagnosis 4 . With this letter we would like to share our experience in examining the role of URA as an early prepubertal marker for IGD.…”

Section: Dear Editormentioning

confidence: 99%

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome

et al. 2018

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Isolated GnRH Deficiency (IGD) that is either displayed as Kallmann Syndrome (KS) or normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is a rare Mendelian disorder with wide clinical and genetic variability. Apart from the arrest of pubertal development, IGD is also characterized by a variety of non- reproductive features including unilateral renal agenesis (URA), midline defects, dental & ocular defects and many more. In this analysis we explored the role of unilateral renal agenesis, as a screening tool for detection of genetic changes associated with IGD. We performed detailed genetic screening with Sanger sequencing in 14 genes associated with Isolated GnRH Deficiency as well as screening of intragenic deletions in the gene of anosmin 1-ANOS1 with MLPA. No genetic variation was detected, suggestive of an alternative genetic cause for URA in these normosmic patients, highlighting the necessity of further genetic screening.

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Section: Dear Editormentioning

confidence: 99%