1. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.
- Author
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Kaiserman KB, Nakamoto JM, Geffner ME, and McCabe ER
- Subjects
- Adolescent, Adrenal Insufficiency congenital, Adrenal Insufficiency physiopathology, DAX-1 Orphan Nuclear Receptor, DNA-Binding Proteins genetics, Frameshift Mutation, Gonads physiology, Humans, Hypogonadism physiopathology, Hypothalamo-Hypophyseal System physiology, Infant, Newborn, Male, Puberty genetics, Receptors, Retinoic Acid genetics, Transcription Factors genetics, Adrenal Insufficiency genetics, Hypogonadism genetics, Puberty physiology, Repressor Proteins
- Abstract
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.
- Published
- 1998
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