CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development

Pinto, Graziella; Abadie, Véronique; Mesnage, Robin; Blustajn, J.; Cabrol, Sylvie; Amiel, Jeanne; Hertz-Pannier, Lucie; Bertrand, Anne-Marie; Lyonnet, Stanislas; Rappaport, Rebecca; Netchine, Irène

doi:10.1210/jc.2004-2474

Cited by 131 publications

(142 citation statements)

References 38 publications

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“…New diagnostic criteria have been proposed in the past few years (see reference 41 ). Moreover, it has been reported that most if not all CHARGE patients have both olfactory bulb aplasia or hypoplasia and HH, 42,43 that is, the two KS defining features. Consequently, previously reported KS cases associated with congenital heart disease 44 or choanal atresia 45 could in fact represent unrecognised mild CHARGE cases.…”

Section: Differential Diagnosis: Normosmic Idiopathic Hh and Charge Smentioning

confidence: 99%

Kallmann syndrome

2008

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The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states. These two genes are likely to be involved both in monogenic recessive and digenic/oligogenic KS transmission modes. Notably, mutations in any of the above-mentioned KS genes have been found in less than 30% of the KS patients, which indicates that other genes involved in the disease remain to be discovered.

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Section: Differential Diagnosis: Normosmic Idiopathic Hh and Charge Smentioning

confidence: 99%

Kallmann syndrome

2008

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“…The guidelines we present here for cranial imaging in patients with CHARGE syndrome are based on previously published neuro‐radiologic recommendations (Asakura et al, 2008; Bergman, Janssen, et al, 2011b; Fujita et al, 2009; Gregory et al, 2013; Pinto et al, 2005; Vesseur, Free, et al, 2016a) in addition to current insights in detectable neuro‐radiologic abnormalities and anatomic variants in patients with CHARGE syndrome (see Table 3). …”

Section: Overview Of Guidelines and Recommendations From Literaturementioning

confidence: 99%

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Geus

Free

Verbist

et al. 2017

American J of Med Genetics Pt C

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“CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri‐anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.

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“…Olfactory deficits are commonly accompanied by hypoplasia or aplasia of the olfactory bulbs in the brain [55,[60][61][62]. It was discovered, through electrophysiological and behavioral assays, that Chd7 heterozygous mice display complete anosmia, lack of odor discrimination, and olfactory bulb hypoplasia [61,63].…”

Section: Chd Proteins In Human Diseasementioning

confidence: 99%