Absent or delayed adrenarche in Pit-1/POU1F1 deficiency.
Mutations of the PIT1/POU1F1 gene are responsible for a rare variant of anterior hypopituitarism, including deficiency of growth hormone, prolactin and thyrotropin. In 8 ethnically diverse POU1F1-deficient patients (4 different mutations) with normal circulating levels of cortisol and adrenocorticotropic hormone, and with spontaneous onset and progression of puberty, we observed an absence or delay of adrenarche (median circulating dehydroepiandrosterone-sulfate -6.2 SD); in each of the 4 postmenarcheal females, pubarche (i.e. appearance of pubic hair) was also absent or delayed. The absence/delay of adrenarche in POU1F1-deficient patients and the absence/delay of pubarche in POU1F1-deficient females suggest that a POU1F1-dependent factor contributes to the normal development of adrenarche and female pubarche.
Taha
Doris
D
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Jeddah, Saudi Arabia. dtaha@kfshrc.edu.sa
Mullis
Primus E
PE
Ibáñez
Lourdes
L
de Zegher
Francis
F
D000293:Adolescent; D050499:Adrenarche / Q000502:physiology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D002648:Child; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007018:Hypopituitarism / Q000209:etiology / Q000503:physiopathology; D008297:Male; D009154:Mutation; D011627:Puberty; D050817:Transcription Factor Pit-1 / Q000172:deficiency*
C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D019314:Dehydroepiandrosterone Sulfate; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone