Endocrine Abstracts

The human adrenal gland develops from around 4 weeks gestation and undergoes distinct changes throughout pre- and post-natal life. Defects in these processes can cause adrenal hypoplasia and result in adrenal insufficiency. Adrenal hypoplasia can be: i) secondary to abnormal pituitary function, ACTH synthesis or splicing; ii) the result of ACTH resistance (familial glucocorticoid deficiency; triple A syndrome); or iii) due to a primary defect in adrenal development itself (pri...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. The incidence of congenital adrenal hyperplasia in the general population of western countries is ~1 in 10 000 to 1 in 15 000 life births with about 95% of cases caused by 21-hydroxylase deficiency. Several novel forms have been discovered in recent years involving all steps in steroidogenesis. The existence of milder or non-classic sub...

Abstract unavailable....

Abstract unavailable....

Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital, and often, the central member of this clinical team needs to lead the clinical evaluation of the infant systematically but also needs to be sensitive to the nee...

Abstract unavailable....