title: Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
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.
  
  
  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 geno-phenotype of CHARGE syndrome.
  
  
  CONCLUSIONS
  In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.
authors.affiliation: Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Nele
authors.initials: N
authors.lastname: Reynaert
authors.forename: Francis
authors.initials: F
authors.lastname: de Zegher
authors.forename: Inge
authors.initials: I
authors.lastname: Francois
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.forename: Dominique
authors.initials: D
authors.lastname: Beckers
authors.forename: Kristina
authors.initials: K
authors.lastname: Casteels
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D058747:CHARGE Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D010053:Ovary / Q000254:growth & development / Q000473:pathology; D010641:Phenotype; D017384:Sequence Deletion; D014599:Uterus / Q000254:growth & development / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human