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Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior.
Castañeyra-Perdomo A, Castañeyra-Ruiz L, González-Marrero I, Castañeyra-Ruiz A, Gonzalez-Toledo JM, Castañeyra-Ruiz M, Carmona-Calero EM. Castañeyra-Perdomo A, et al. Med Hypotheses. 2014 Jan;82(1):74-6. doi: 10.1016/j.mehy.2013.11.011. Epub 2013 Nov 16. Med Hypotheses. 2014. PMID: 24296236
Hypogonadism is characterized by the absence or reduced levels of gonadotropin-releasing hormone and anosmia due to olfactory bulb aplasia. KS treatment usually begins just before puberty, but brain sexual maturation occurs long before puberty normally at perinatal …
Hypogonadism is characterized by the absence or reduced levels of gonadotropin-releasing hormone and anosmia due to olfactory bulb …
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Legendre M, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27. Am J Med Genet C Semin Med Genet. 2017. PMID: 29178447
Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. ...Besides obtaining a detailed clinical description, …
Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of …
Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.
Sarfati J, Dodé C, Young J. Sarfati J, et al. Front Horm Res. 2010;39:121-132. doi: 10.1159/000312698. Epub 2010 Apr 8. Front Horm Res. 2010. PMID: 20389090 Review.
Prok2 and prokr2 gene knockout mice both have agenesis or hypoplasia of the olfactory bulbs, associated with hypogonadotropic hypogonadism linked to abnormal GnRH neuron migration. ...When only one allele is affected, penetrance of the two main clinical features of …
Prok2 and prokr2 gene knockout mice both have agenesis or hypoplasia of the olfactory bulbs, associated with hypogonadotropic hypogon …