Revista Cubana de Endocrinología
versão On-line ISSN 1561-2953
CARVAJAL MARTINEZ, Francisco et al. Non-classic way of congenital adrenal hyperplasia in childhood and adolescence. Rev Cubana Endocrinol [online]. 2010, vol.21, n.1, pp. 62-73. ISSN 1561-2953.
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.
Palavras-chave : congenital adrenal hyperplasia; Hydroxylase 21; hydroxyprogesterone 17; early pubarche.