Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency

Katharina Gehrmann; Manon Engels; Elena Bennecke; Claire Bouvattier; Henrik Falhammar; Baudewijntje P. C. Kreukels; Anna Nordenstrom; Nicole Reisch; Nicole Gehrmann; Nike M.M.L. Stikkelbroeck; Marcus Quinkler; Hedi L. Claahsen-van der Grinten; on behalf of the dsd-LIFE group


J Endo Soc. 2019;3(8):1445-1456. 

In This Article

Abstract and Introduction


Purpose: Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered.

Patients: One of the largest European male cohorts of patients with CAH in which sexuality in male patients with CAH was assessed.

Methods: Sexuality was evaluated in 91 sexually active male patients with CAH using questionnaires investigating sexual orientation, age at sexual initiation, sexual activity, satisfaction with sex life, and sexual problems, such as fears or dislike of sexual activity, lack or excessive sexual desire, difficulties getting aroused or reaching an orgasm, premature ejaculation, and no or incomplete erection.

Results: Sexuality in male patients with CAH was similar to European reference populations. If sexuality problems were present, they were less frequently reported by the most severely affected CAH males. Adducing a holistic perspective, sexual problems showed substantial association to psychological problems, such as anxiety and depression.

Conclusions: Sexuality in male patients with CAH in general was unaffected and sexuality problems seemed to be associated in particular with psychological problems. Because sexual health is a key factor of general health, we recommend that sexuality as well as psychological issues explicitly should be addressed in health care of patients with a CAH diagnosis, independent of sex.


Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders involving altered steroid biosynthesis. The majority of cases with CAH (>95%) are caused by 21-hydroxylase deficiency (21OHD).[1–3] 21OHD is clinically classified according to the severity into the salt-wasting (SW) and simple-virilizing (SV) form, both classic CAH, with an incidence of 1:10,000 to 15,000, and nonclassic CAH with an incidence of 1:2500.[4] The second most frequent cause of CAH, 11-hydroxylase deficiency, has an incidence of 1:200,000, whereas other enzymatic defects affecting adrenal hormone synthesis are very rare.[2] Classic CAH is characterized by cortisol deficiency, aldosterone deficiency in SW, and subsequent androgen excess. Patients with classic CAH therefore require lifelong replacement therapy with glucocorticoids and often also with mineralocorticoids to normalize or suppress the androgen production in the adrenals.[5–7]

Sexuality is an integral part of human development involving biological, physical, social, and emotional factors. Biological and physical factors focus on the reproductive function of sexuality, which is mainly influenced by physical development.[8] Social and emotional factors of sexuality can be separated in cultural background and individual social experiences (e.g., being influenced by sociocultural norms, psychological well-being, and individual experiences of attachment and intimacy).[9–12] A definition of sexuality covers several categories, including sexual orientation, sexual roles, sexual temperament, sexual drive and function, sexual beliefs, values, and roles.[9,13,14] Sexual function and quality of life (QoL) are interrelated.[15] If sexual function is impaired by illness, medical therapy, anxiety, or other stress factors, QoL may decline.[14] QoL in male patients with CAH is reported in a few small studies and varies from impaired[3,16,17] to equal[18] or better[19] compared with a control population, recently reviewed in Daae et al..[20]

The impact of CAH on the development of the biological and social sex characteristics varies substantially between the sexes. Prenatal androgen excess can cause virilization of the external genitalia in females with CAH and is therefore classified as a "disorder/difference of sex development" (DSD). Androgen excess in females can result in altered body, behavior, and sexuality.[21–25] Although the physical effect of (prenatal) androgen excess in male patients with severe 21OHD is not as profound, it might lead to hyperpigmentation of the external genitalia, but not to sex incongruence as seen in females with classic CAH. One study reported no effect of androgen excess on behavior in males with CAH, because no differences in sexual interest and orientation were found compared with healthy controls.[23] Sexual drive and function were studied in a few small studies. Impaired sexual drive, erection, and ejaculation was found in one study of 20 males with CAH,[26] whereas two other studies described high rates of erectile dysfunction (41% to 55%) and lower sexual activity, which were linked to limited endocrine control or to oversubstitution with glucocorticoids.[3,18]

The data on sexuality in males with CAH are thus scarce and derived from studies with small sample sizes in a single center or country. Our aim is to describe sexuality and factors related to subjective health status, anxiety, and depression in males with CAH in a large European, multicenter cohort.