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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.