Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.
Pineda
M
M
Department of Neuropaediatrics, University Hospital of Sant Joan de Déu, Barcelona, Spain.
Pavia
C
C
Vilaseca
M A
MA
Ferrer
I
I
Temudo
T
T
Chabas
A
A
Stibler
H
H
Jaeken
J
J
D018981:Congenital Disorders of Glycosylation / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D010641:Phenotype; D011627:Puberty / Q000502:physiology*