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- Title
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
- Authors
Reynaert, Nele; de Zegher, Francis; Francois, Inge; Devriendt, Koenraad; Beckers, Dominique; Casteels, Kristina
- Abstract
Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in >80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare. Methods and Results: We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the genophenotype of CHARGE syndrome. Conclusion: In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.
- Subjects
CHARGE syndrome; GENETIC disorders; CONGENITAL disorders; HYPOGONADISM; AMENORRHEA; HUMAN abnormalities
- Publication
Hormone Research in Paediatrics, 2016, Vol 85, Issue 4, p288
- ISSN
1663-2818
- Publication type
Case Study
- DOI
10.1159/000443308