Introduction: cP450aromatase deficiency provides clues for the understanding of the role of
aromatase in prepubertal and pubertal human health and disease. Placental aromatization …

Severe growth failure and insulin-like growth factor (IGF) deficiency were first reported 40
years ago in patients who ultimately proved to have mutations in the gene encoding the growth …

Adrenarche is the direct consequence of the organogenesis of the zona reticularis (ZR).
Proliferation of cortical cells could take place in the outermost layers of the adrenal cortex. Cells …

Background Children born small for gestational age (SGA) experience higher rates of
morbidity and mortality than those born appropriate for gestational age. In Latin America, …

Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding
11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant …

The aim of this study was to analyze the possible implication of changes in the GH/IGF-I axis
and in insulin sensitivity for the regulation of adrenal androgen secretion of normal …

STAT5 proteins are components of the common growth hormone and interleukin 2 family of
cytokines' signaling pathway. Mutations in the STAT5b gene, described in 2 patients, lead to …

The expression of aromatase, estrogen receptor α (ERα) and β (ERβ), androgen receptor (AR),
and cytochrome P-450 side chain cleavage enzyme (cP450 scc) was studied in …

Objective To report genotype–phenotype correlation in a large cohort of patients. Context
Study of the CYP21A2 gene in 866 unrelated chromosomes of 21‐hydroxylase deficiency in …

Sex determination in mammals is governed by antagonistic interactions of two genetic
pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in …