Endocrinological Characteristics of 25 Japanese Patients with CHARGE          Syndrome

Shoji, Yasuko; Ida, Shinobu; Etani, Yuri; Yamada, Hiroyuki; Kayatani, Futoshi; Suzuki, Yasuhiro; Kosaki, Kenjiro; Okamoto, Nobuhiko

doi:10.1297/cpe.23.45

Cited by 19 publications

(27 citation statements)

References 12 publications

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“…These growth defects in individuals with CHARGE often become evident in the postnatal period and their etiology is often multifactorial, including feeding difficulties, poor nutrition, gastro-esophageal reflux, renal dysfunction, cardiac dysfunction and rarely, Growth Hormone (GH) deficiency (Zentner, Layman, et al 2010). In reports where GH axis was specifically examined in individuals with CHARGE, ~9% exhibited suboptimal GH levels requiring treatment and these subjects respond favorably to exogenous GH replacement (Shoji et al 2014; Asakura et al 2008; Pinto et al 2005; Dorr et al 2015; Esposito et al 2014). Rarely, individuals with CHARGE show evidence of combined pituitary hormone deficiency (combination of GH, LH/FSH, TSH, ACTH) and such cases can demonstrate radiological evidence of anterior pituitary hypoplasia (Pinto et al 2005) or ectopic posterior pituitary (Gregory et al 2013) suggesting that rare subsets of patients with CHARGE may manifest structural pituitary abnormalities that result in combined pituitary hormone dysfunction.…”

Section: Endocrine Abnormalities In Charge Syndromementioning

confidence: 99%

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Balasubramanian

Crowley

2017

American J of Med Genetics Pt C

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Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ~60–80% of cases) and represent the letter “G” in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels). In addition to the gonadal endocrine abnormalities, in a small minority of individuals with CHARGE, additional endocrine defects including growth hormone deficiency, multiple pituitary hormone deficits and primary hypothyroidism may also be seen. CHD7 mutations disrupt the targeting of olfactory axons and the migration of GnRH-synthesizing neurons during embryonic development, resulting in congenital idiopathic hypogonadotropic hypogonadism (IHH) and anosmia (or hyposmia), two features that define human Kallmann syndrome. Since Kallmann syndrome is as one of its constituent phenotypes in individuals with CHARGE, recent studies have investigated the role of CHD7 mutations in individuals with IHH and established that deleterious missense mutations in CHD7 are associated with Kallmann syndrome as well as normosmic form of IHH. These missense mutations affect the ATPase and nucleosome remodeling activities of the CHD7 protein. These observations suggest that CHD7 protein function is critical for the ontogeny of GnRH neurons and neuroendocrine regulation of GnRH secretion.

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Section: Endocrine Abnormalities In Charge Syndromementioning

confidence: 99%

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Balasubramanian

Crowley

2017

American J of Med Genetics Pt C

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“…GH deficiency has been documented in children with CHARGE syndrome (5)(6)(7)(8)(11)(12)(13)(14)(15). Pinto and cols.…”

Section: Discussionmentioning

confidence: 99%

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

Costa

Coutinho

Silva

et al. 2020

Archives of Endocrinology and Metabolism

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SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.

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“…For hypothyroidism, prevalences between 0 and 16% were reported. (Asakura et al, ; Dörr et al, ; Legendre et al, ; Pinto et al, ; Shoji et al, ). In addition to reduced prepubertal growth, 75% of girls and 82% of boys with CS have gonadotropin deficiency and do not achieve spontaneous puberty (Bergman, Bocca, Hoefsloot, Meiners, & van Ravenswaaij‐Arts, ).…”

Section: Introductionmentioning

confidence: 99%

“…Within the first 3 months after birth, their growth rate decreases and patients with CS begin to show significantly lower weight and height than a reference population (Asakura et al, ; Blake, Kirk, & Ur, ; Dörr, Madeja, & Junghans, ; Legendre et al, ; Pinto et al, ). Some studies report catch‐up growth in the subsequent years of life, but height remains significantly below average in both boys and girls with CS (Blake et al, ; Dörr et al, ; Pinto et al, ; Shoji et al, ). The exact cause of this growth retardation remains unclear.…”

Section: Introductionmentioning

confidence: 99%

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

Penders

Dijk

Bocca

et al. 2019

American J of Med Genetics Pt A

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Background Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge of body proportions in CS may contribute to a better characterization of this syndrome. This knowledge is important when considering starting growth‐stimulating therapy. Methods For this cross‐sectional study, we selected 32 children with CS and a CHD7 mutation at the Dutch CHARGE Family Day in 2016 or 2017 and the International CHARGE conference in Orlando, Florida, in 2017. We used photogrammetric anthropometry—a measurement method based on digital photographs—to determine various body proportions. We compared these to measurements in 21 normally proportioned children with growth hormone deficiency, using independent‐samples t test, Mann–Whitney U test, or chi‐square test as appropriate. Results Children with CS appear to have a shorter trunk in proportion to their height, head length, and arm length. Children with CS also had smaller feet proportional to tibia length compared to controls. The change of body proportions with age was similar in children with CS and controls. Conclusion Body proportions in children with CS are significantly different from those of normally proportioned controls, but a similar change of body proportions with age was noted for both groups.

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Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome

Cited by 19 publications

References 12 publications

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

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