63rd Endocrine Society of Australia Annual Scientific Meeting 2020

Congenital adrenal hyperplasia (CAH) is the commonest adrenal disorder of childhood, with autosomal recessive inheritance and most commonly due to 21 hydroxylase deficiency. Clinical features vary depending on degree of enzyme deficiency and sex of the child.

Presentation and management in infancy and childhood will be briefly outlined, to provide understanding of past treatments including surgery and to give background context for later adolescent and adult management. Rare disorders will only be mentioned where important in less severe forms that may present late or where specific problems such as hypertension are important.

Non classical CAH presents in later childhood, adolescence or sometimes in adulthood, accounting for 10-25%of all girls who he oligomenorrhoea, anovulatory infertility and a PCOS like picture. Diagnosis often requires synacthen testing for confirmation.  Treatment with glucocorticoid is usually not recommended. Management of NCCAH is outlined for females and males,  with particular reference to testicular adrenal rest tissue (TARTs) and complex fertility issues.

Adult treatment of CAH differs from that of other adrenal insufficiency, requiring androgen suppression as well as GC and mineralocorticoid replacement.  Controversy regarding optimal management including bilateral adrenalectomy, remains, despite many attempts to adjust regimes using modified release GC, with little evidence for  improved outcomes, reduced risk for adrenal crisis, quality of life  or better fertility. Illustrative cases will be used to facilitate discussion.

Congenital adrenal hyperplasia (CAH) is the commonest adrenal disorder of childhood, with autosomal recessive inheritance and most commonly due to 21 hydroxylase deficiency. Clinical features vary depending on degree of enzyme deficiency and sex of the child.

Presentation and management in infancy and childhood will be briefly outlined, to provide understanding of past treatments including surgery and to give background context for later adolescent and adult management. Rare disorders will only be mentioned where important in less severe forms that may present late or where specific problems such as hypertension are important.

Non classical CAH presents in later childhood, adolescence or sometimes in adulthood, accounting for 10-25%of all girls who he oligomenorrhoea, anovulatory infertility and a PCOS like picture. Diagnosis often requires synacthen testing for confirmation.  Treatment with glucocorticoid is usually not recommended. Management of NCCAH is outlined for females and males,  with particular reference to testicular adrenal rest tissue (TARTs) and complex fertility issues.

Adult treatment of CAH differs from that of other adrenal insufficiency, requiring androgen suppression as well as GC and mineralocorticoid replacement.  Controversy regarding optimal management including bilateral adrenalectomy, remains, despite many attempts to adjust regimes using modified release GC, with little evidence for  improved outcomes, reduced risk for adrenal crisis, quality of life  or better fertility. Illustrative cases will be used to facilitate discussion.

Congenital adrenal hyperplasia (CAH) is the commonest adrenal disorder of childhood, with autosomal recessive inheritance and most commonly due to 21 hydroxylase deficiency. Clinical features vary depending on degree of enzyme deficiency and sex of the child.

Presentation and management in infancy and childhood will be briefly outlined, to provide understanding of past treatments including surgery and to give background context for later adolescent and adult management. Rare disorders will only be mentioned where important in less severe forms that may present late or where specific problems such as hypertension are important.

Non classical CAH presents in later childhood, adolescence or sometimes in adulthood, accounting for 10-25%of all girls who he oligomenorrhoea, anovulatory infertility and a PCOS like picture. Diagnosis often requires synacthen testing for confirmation.  Treatment with glucocorticoid is usually not recommended. Management of NCCAH is outlined for females and males,  with particular reference to testicular adrenal rest tissue (TARTs) and complex fertility issues.

Adult treatment of CAH differs from that of other adrenal insufficiency, requiring androgen suppression as well as GC and mineralocorticoid replacement.  Controversy regarding optimal management including bilateral adrenalectomy, remains, despite many attempts to adjust regimes using modified release GC, with little evidence for  improved outcomes, reduced risk for adrenal crisis, quality of life  or better fertility. Illustrative cases will be used to facilitate discussion. Questions regarding pregnancy in patients with CAH are common . These will be addressed.

Presentation supported by