Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.

Reynaert, Nele;de Zegher, Francis;Francois, Inge;Devriendt, Koenraad;Casteels, Kristina;et.al.
(2016) Hormone Research in Paediatrics : from developmental endocrinology to clinical research — Vol. 85, n° 4, p. 288-290 (2016)

Files

ReynaertNHormResPaediatr2016.pdf
  • Restricted Access
  • Adobe PDF
  • 204.8 KB
Request a copy

Details

Authors
  • Reynaert, Nele
    Author
  • de Zegher, Francis
    Author
  • Francois, Inge
    Author
  • Devriendt, Koenraad
    Author
  • Beckers, DominiqueUCLouvain
    Author
  • Casteels, Kristina
    Author
Show more
Abstract
(en) 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 geno-phenotype of CHARGE syndrome. CONCLUSION: In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.
Affiliations

Citations

  • APA
  • Chicago
  • FWB

Reynaert, N., de Zegher, F., Francois, I., Devriendt, K., Beckers, D., & Casteels, K. (2016). Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries. Hormone Research in Paediatrics : from developmental endocrinology to clinical research, 85(4), 288-290. https://doi.org/10.1159/000443308 (Original work published 2016)