Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

Abstract

SummaryOur 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.

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

“…This has been attributed to several factors including psychological factors such as different gender behavior and low maternal interests; post-surgical difficulties with intercourse, anovulation, and menstrual irregularities; and the effect of progesterone hypersecretion on endometrial receptivity (2). The precise mechanisms underlying menstrual irregularities and anovulation remain uncertain, involving overproduction of androgen and/or progesterone (3,4).…”

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

“…Replacing steroid deficiency and avoiding the long-term consequences of CAH and glucocorticoid use are the aims of the current medical treatment. Studies have shown the presence of adverse outcomes in adult CAH patients (3,4). In a prospective cross-sectional study conducted in the United Kingdom in 203 patients, BMI was found to be higher than that in the health survey for England data, and osteopenia (40%) and osteoporosis (7%) were common (5).…”

Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

“…This potentially explains the low rates of romantic partnerships and sexual activity reported in the investigations of women diagnosed with CAH [9, 11, 12, 17, 18]. Furthermore, for women who may want to get pregnant, problems with fertility (see [19] for a review of fertility research) may also impact willingness to pursue relationships, and some individuals have reported the inability to satisfy a potential mate's needs for children as a barrier to marriage (C. Migeon, personal communication, January 8, 2006).…”