Health problems of adolescent and adult patients with 21-hydroxylase deficiency

Abstract

Twenty-one-hydroxylase deficiency (21-OHD) is one of the most common forms of congenital adrenal hyperplasias. Since the disease requires life-long steroid hormone replacement, transition from pediatric clinical care to adolescent and adult care is necessary. Recently, several studies have shown that morbidity and quality of life in adolescent and adult patients with 21-OHD are impaired by obesity, hypertension, diabetes mellitus, impaired glucose tolerance, dyslipidemia, and osteoporosis. In addition, excess adrenal androgen impairs fertility in both females and males. This mini review discusses the current health problems in adolescent and adult patients with 21-OHD and ways to prevent them.

Keywords: 21-hydroxylase deficiency; adolescent; adult; fertility; obesity.

Fig. 1.

Endocrine imbalances in 21-OHD. * PAE: Prenatal androgen excess. # TART: Testicular adrenal rest tumor. ## OART: Ovarian adrenal rest tumor. Prenatal androgen excess causes virilization of the female fetus. In addition to high postnatal androgen, high prenatal levels of androgen from the adrenal gland may be related to the development of obesity, insulin resistance, and metabolic problems (bold arrow).

Fig. 2.

(A) Factors affecting male infertility. In adult males with 21-OHD, TARTs are frequently observed, affecting male fertility. (B) Factors affecting female infertility. In females, excess androgen and progesterone from the adrenal gland affects the ovaries, hypothalamic-pituitary-ovarian axis, and the uterus, resulting in infertility. In addition, vaginal insufficiency with dyspareunia after surgery is related to a low fertility rate. * TART: Testicular adrenal rest tumor. # HPO: Hypothalamic-pituitary-ovary.