Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

Congenital adrenal hyperplasia (CAH) comprises a family of autosomal recessive disorders involving impaired synthesis of cortisol. In 21-hydroxylase deficiency (21-OH CAH), the most common form comprising as many as 95% of new cases, excessive adrenal androgen biosynthesis results in masculinization of the genitals of 46, XX offspring [1]. Similar to other chronic pediatric conditions, CAH has drawn the attention of clinical researchers interested in the psychological sequelae of the condition and factors contributing to variability in both physical health and quality of life outcomes of affected persons.Hormone replacement in CAH is imperfect and does not mimic physiologic secretion. According to the 2002 Consensus Statement on 21-Hydroxylase Deficiency [2], the goal of treatment is the minimization of adrenal sex hormone and glucocorticoid excess, while simultaneously preventing premature or inappropriate virilization, optimizing growth and adult height, and preserving potential fertility. Because of the masculinizing effects of prenatal androgen excess on the genitalia, 21-OH CAH in 46, XX is now categorized as a disorder of sex development (DSD) [3]. According to the 2006 Consensus Statement on the Management of Intersex, DSD are "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical" [3] (p. e488). Both the CAH and DSD consensus statements recognize the stress on patient and family associated with a chronic life-threatening illness and, in the case of girls and women affected with CAH, the added burden of atypical genital anatomy. The DSD consensus statement also notes that cultural and social factors modulate outcomes in affected persons and, therefore, recommends that these influences be taken into account in clinical care and research design. The statement charges clinicians and researchers to examine a wide range of psychological endpoints including "sexual function, and social and psychosexual adjustment, mental he