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© Research
Publication : PloS one

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations

Team: Human Developmental Genetics
Member: Kenneth McElreavey
Scientific Fields
Diseases
Organisms
Applications
Technique

Published in PloS one - 27 Jun 2012

Galeotti C, Lahlou Z, Goullon D, Sarda-Thibault H, Cahen-Varsaux J, Bignon-Topalovic J, Bashamboo A, McElreavey K, Brauner R

Link to Pubmed [PMID] – 22761912

PLoS ONE 2012;7(6):e39828

Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis.

http://www.ncbi.nlm.nih.gov/pubmed/22761912