Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.
An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAX1 mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.
Kaiserman
K B
KB
Department of Pediatrics, UCLA Children's Hospital 90095-1752, USA.
Nakamoto
J M
JM
Geffner
M E
ME
McCabe
E R
ER
D000293:Adolescent; D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D016368:Frameshift Mutation; D006066:Gonads / Q000502:physiology; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000503:physiopathology; D007030:Hypothalamo-Hypophyseal System / Q000502:physiology; D007231:Infant, Newborn; D008297:Male; D011627:Puberty / Q000235:genetics / Q000502:physiology*; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors