Fertility in Patients with Congenital Adrenal Hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is generally regarded as a paediatric endocrine disease, but nowadays nearly all patients reach adulthood as a result of improved diagnosis and treatment. It is now increasingly recognised that treatment goals shift during life: one of the major treatment goals in childhood and puberty, i.e. normal growth and development, is no longer relevant after childhood, whereas other aspects, such as fertility and side effects of longterm glucocorticoid treatment, become more important in adulthood. This paper focuses on fertility in male and female adult patients with CAH. In males with CAH the fertility rate is reduced compared with the normal population, the most frequent cause being testicular adrenal rest tumours. Development and growth of these tumours is assumed to be ACTH dependent and undertreatment may play an important role. If intensifying glucocorticoid treatment does not lead to tumour decrease, surgical intervention may be considered, but the effect on fertility is not yet known. In females with CAH the degree of fertility depends on the phenotype of the CAH. Most fertility problems are seen in the classic salt-wasting type. Age of menarche and regularity of the menstrual cycle depends on the degree of adrenal suppression. Not only adrenal androgens have to be normalised but also the levels of adrenal progestins (progesterone and

Cyp11b1 Null Mouse, a Model of Congenital Adrenal Hyperplasia

“…Because adrenal progesterone secretion is thought to contribute significantly to circulating levels (54, 55), we suggest that increases of urinary progesterone in null mice represent an accumulation of 11␤-hydroxylase precursors. Similarly, in female CAH patients, urinary 17-hydroxyprogesterone is raised and can be used as a titratable marker for restoring normal progesterone activity when treating infertility problems with glucocorticoid replacement (56).…”

Long-Term Outcome of Disorders of Sex Development

“…Women with CAH, particularly those with the saltlosing form, have reduced fertility [Claahsen-van der Grinten et al, 2006b]. One reason for this is polycystic ovarian disease [Hague et al, 1990].…”

Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling

“…These tumours can already be detected in childhood and adolescence and may consequently lead to chronic obstruction of the seminiferous tubules with azoospermia and infertility [15,16]. Longstanding obstruction can lead to irreversible damage of the surrounding testicular tissue [17]. Several in vitro and in vivo studies show that this adrenal rest tissue has characteristic features of adrenocortical cells: they contain ACTH and angiotensin II receptors as well as adrenocortical enzymes to produce adrenal hormones [8,18].…”