Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature

Congenital Adrenal Hyperplasia (CAH) – a complex and heterogeneous group of conditions is inherited as Autosomal Recessive (AR) disorders. The resultant deficiencies in one of the five enzymes involved in adrenal steroidogenesis lead to defects in the steroidogenic pathways and biosynthesis of cortisol, aldosterone and androgens. Precursor steroids proximal to the blocked step accumulate and can be shunted into other metabolic pathways, particularly that of androgen biosynthesis. CAH due to 21-Hydroxylase deficiency is traditionally separated into two clinical groups: the Classical form (CCAH), which is further separated into salt-wasting (75%) and simple-virilizing (25%) phenotypes, and the Nonclassical form (NC-CAH). They are differentiated by their hormonal profile, predominant clinical features and age of appearance. CAH can affect fertility in females due to inadequate introitus, oligomenorrhea and elevated progesterone levels. Many authors reported an effect on male fertility as well. This editorial describes a case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject.