%0 Journal Article
%T Forma no cl¨¢sica de hiperplasia adrenal cong¨¦nita en la ni£¿ez y adolescencia
%A Carvajal Mart¨ªnez
%A Francisco
%A Montesino Est¨¦vez
%A Teresa
%A Espinosa Reyes
%A Tania
%A Navarrete Cabrera
%A Juliette
%A P¨¦rez Ges¨¦n
%A Cecilia
%J Revista Cubana de Endocrinolog£¿-a
%D 2010
%I Scientific Electronic Library Online
%X introduction: the congenital adrenal hyperplasia is an inherited disorder of suprarenal esteroidogenesis, transmitted by genetic mutations with a autosomal recessive character affecting the enzymes intervening in cortisol biosynthesis. in the 90 to 95% of cases, the cause is a deficiency of hydroxylase enzyme 21. objective: to show the current paper authors' experience in the non-classic way of this entity. methods: we made a characterization of 7 female patients diagnosed in the children endocrinology ward of the national institute of endocrinology located in the children hospital, cerro municipality during 1998-2008. results: symptoms started at a mean age of 8,8 years and more the a half of cases had an early pubarche. menarche appeared at a mean age of 19,7 years. we made a biochemical diagnosis achieving higher values of 17 hydroxyprogesterone (in basal conditions). different treatment modalities were used according to each patient and predominant symptoms in each case. conclusions: we verified the great frequency of this entity in female sex, as well as the study and follow-up significance in face of a patient presenting early pubarche.
%K congenital adrenal hyperplasia
%K hydroxylase 21
%K hydroxyprogesterone 17
%K early pubarche.
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S1561-29532010000100005&lng=en&nrm=iso&tlng=en