Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita

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...

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Veröffentlicht in:The Journal of pediatrics 1998-08, Vol.133 (2), p.300-302
Hauptverfasser: Kaiserman, Kevin B., Nakamoto, Jon M., Geffner, Mitchell E., McCabe, Edward R.B.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adolescents
Adrenal Insufficiency - congenital
Adrenal Insufficiency - genetics
Adrenal Insufficiency - physiopathology
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Biological and medical sciences
Coding
DAX-1 Orphan Nuclear Receptor
DNA-Binding Proteins - genetics
Endocrinopathies
Family (Sociological Unit)
Frameshift Mutation
Genetic Disorders
Gonads - physiology
Humans
Hypogonadism - genetics
Hypogonadism - physiopathology
Hypothalamo-Hypophyseal System - physiology
Infant, Newborn
Male
Males
Medical Evaluation
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Patients
Physical Examinations
Pregnancy
Puberty
Puberty - genetics
Puberty - physiology
Receptors, Retinoic Acid - genetics
Repressor Proteins
Transcription Factors - genetics
Young Children
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Beschreibung
Zusammenfassung: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. (J Pediatr 1998;133:300-2)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(98)70242-2