CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development
1Pediatric Endocrinology Unit, Necker-Enfants Malades Hospital, Paris, France.
The Journal of Clinical Endocrinology and Metabolism
|July 21, 2005
Summary
CHARGE syndrome is associated with hypogonadotropic hypogonadism and olfactory bulb abnormalities, similar to Kallmann syndrome. These findings may help refine CHARGE syndrome diagnosis.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- CHARGE syndrome is a complex genetic disorder characterized by multiple congenital malformations, including genital hypoplasia and growth retardation.
- Key features include coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss.
Purpose of the Study:
- To investigate gonadotropic axis function in children with CHARGE syndrome.
- To assess growth parameters and identify potential endocrine deficiencies in CHARGE syndrome patients.
Main Methods:
- A retrospective study was conducted on 32 children diagnosed with CHARGE syndrome.
- Hormonal assessments (LH, GnRH stimulation, testosterone) and physical measurements (height, BMI) were analyzed.
- Olfactory function and brain imaging (MRI) were evaluated.
Main Results:
- 19 of 20 boys exhibited signs of hypogonadotropic hypogonadism (micropenis, cryptorchidism).
- Seven of nine prepubertal boys had very low testosterone levels; LH response to GnRH was variable.
- None of the 7 girls over 12 years had started puberty; 5 showed no GnRH response. All patients had olfactory deficits and abnormal olfactory bulbs.
- Mean height at 5 years was -2 SD; GH deficiency was rare.
Conclusions:
- CHARGE syndrome shares key features with Kallmann syndrome, specifically hypogonadotropic hypogonadism and olfactory system defects.
- Abnormalities in forebrain and olfactory bulb development may represent a significant diagnostic criterion for CHARGE syndrome.
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