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Hypogonadism and CHARGE association
P G Wheeler1, C A Quigley, A Sadeghi-Nejad
1Division of Genetics, Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children at New England Medical Center, Boston, Massachusetts, USA. pwheeler@lifespan.org
American Journal of Medical Genetics
|September 20, 2000
Summary
CHARGE association often involves genital hypoplasia. This study links hypogonadotropic hypogonadism to genital and pubertal issues in both males and females with CHARGE syndrome.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- CHARGE association is a complex genetic disorder with variable features.
- Genital hypoplasia is a recognized, though often overlooked, feature, primarily noted in males.
Observation:
- Nine individuals with CHARGE association presented with hypogonadotropic hypogonadism.
- This was evidenced by hypogenitalism and low levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone).
Findings:
- Central hypogonadism is proposed as the cause of genital hypoplasia in males with CHARGE association.
- It also explains the lack of secondary sexual development in both sexes.
Implications:
- Early diagnosis of hypogonadotropic hypogonadism in CHARGE syndrome is crucial.
- Measuring LH and FSH in infancy or adolescence can facilitate early detection and treatment, mitigating psychosocial and medical issues.
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