Congenital Adrenal Hyperplasia in Adults: A Review of Medical, Surgical and Psychological Issues

Cara Megan Ogilvie; Naomi S. Crouch; Gill Rumsby; Sarah M. Creighton; Lih-Mei Liao; Gerard S. Conway

Disclosures

Clin Endocrinol. 2006;64(1):2-11. 

In This Article

Summary and Introduction

Our knowledge of the experience of adults with congenital adrenal hyperplasia (CAH) as they pass through life is only now emerging. In this review we gather medical, surgical and psychological literature pertaining to adults with CAH and consider this alongside practical experience gained from a dedicated adult CAH clinic. There is increasing awareness for the need for multidisciplinary teams who have knowledge of CAH particularly with respect to gynaecological surgery and clinical psychology for women and testicular function in men.

Routine management of CAH comprises adjustment of glucocorticoid and mineralocorticoid treatment according to individual needs balancing biochemical markers, compliance and long term risks. Bone density is one such long term concern and is not greatly reduced in most individuals with CAH. More recently, attention has turned to cardiovascular risk factors and catecholamine deficiency in adults with CAH.

Women with CAH require access to an experienced gynaecologist, specialised pregnancy care and psychosexual support. The very low fertility rates for women with CAH previously reported appear to be improving with time. Men with CAH are often lost to follow up and therefore miss out on surveillance for hypogonadism either through the effect of adrenal rests of from suppression of gonadotrophins resulting in a high prevalence of oligospermia.

Fifty years have passed since the introduction of glucocorticoids for the treatment of congenital adrenal hyperplasia (CAH). Over this time, considerable expertise has developed in the paediatric context, but much less is known about long-term outcomes for adults with CAH. Most cohorts are still relatively young and more knowledge about the health and well-being of the older age groups needs to be developed.

The optimal treatment for CAH continues to be a challenge. Clinical management rests mainly with endocrinologists with episodic input from gynaecologists, such as follow-up relating to genital surgery and menstrual problems. As we learn more from adults with CAH, the benefits from a multidisciplinary team becomes clear. Endocrinologists, gynaecologists specializing in reconstructive surgery, urologists, fertility specialists, dieticians, sex therapists, biochemists, geneticists, psychologists and clinical nurse specialists – all have a role to play and need to be in close communication.

Important long-term health issues for adults with CAH affect both men and women. For instance, an early focus was on bone density, and more recently, questions have arisen regarding cardiovascular risk. The literature is unclear with regards to female fertility and optimal management for pregnant women who have CAH. Female sexual function has been largely neglected, with availability of gynaecological services for women with CAH variable at best. Many women do not routinely see a gynaecologist at any stage as an adult, despite having undergone reconstructive surgery to the clitoris and vagina as a child. Finally, men with CAH are often lost from follow-up so we have little information on fertility, health and well-being in this group.

The pathophysiology, diagnosis and genetics of CAH as well as glucocorticoid and mineralocorticoid treatments in childhood have been extensively covered in recent reviews.[1,2,3] Here we aim to cover key clinical issues for adults with CAH based on the experience gained from a multidisciplinary centre of referral for adults.

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