Physiology and pathophysiology of estrogens. Lessons from pediatric patients with complete aromatase deficiency.

BELGOROSKY, A; RIVAROLA MA.,

The Endocrinologist

Lippincott Williams & Wilkins

Lugar: ´Philadelphia; Año: 2004 vol. 12 p. 91 - 100

1051-2144

Studies of patients with complete cP450arom deficiency have contributed considerably to the analysis of the importance cP450arom activity on sexual differentiation, the pattern of gonadotropin secretion, reproductive capacity, lipid metabolism and insulin sensitivity, as well as growth and skeletal maturation, in the two sexes. In humans, cP450arom appears to be the product of a single gene (CYP19), located in chromosome 15q21.1. In the placenta, the active aromatization of androgens protects the female fetus and the mother from the virilizing actions of fetal androgens. Indeed, 46, XX neonates with complete aromatase deficiency are born with ambiguous external genitalia. Eleven well documented cases of complete aromatase deficiency secondary to mutations of the CYP19 gene have been reported The pattern of serum hormones is characterized by very low estrogens and high androgens, FSH, and sometimes LH, depending on age and sex. During infancy, a sexual dimorphism of the role of estrogens in the regulation of gonadotropins has been observed. These patients are at risk of developing ovarian cysts, even before puberty. Finally the study of these patients has been also useful to illustrate the essential role of estrogens in skeletal development, epiphysial maturation and in the pubertal growth spurt, in the two sexes.