Disorders of the Adrenal Cortex in the Fetus and Neonate

Controversies surrounding female athletes with differences in sexual development

“…Yet, elevated nonfunctional testosterone levels in androgen insensitivity syndrome will pose a challenge even in this category, since we can only measure androgen levels in the blood and not at the tissue level, where the androgen effect is expected to occur. (10,13). Affected individuals with a 46, XY karyotype present with significant variability in phenotype and androgen synthesis.…”

“…Critical voices have argued that such rules are discriminatory in nature and stigmatize these athletes rather than empower and celebrate their naturally occurring diversity. Many have nal androgen overproduction occurs in congenital adrenal hyperplasia (CAH) due to variable enzymatic deficiencies, such as 21-hydroxylase deficiency CYP21A2 (6p21.33), 3β-hydroxysteroid dehydrogenase 2 HSD3B2 (1p12), and 11 β-hydroxylase deficiency CYP11B1 (8q24.3) (10). In adrenal hyperandrogenism, which is associated with these enzymatic deficiencies, the impaired cortisol synthesis leads to interruption of the cortisol-adrenocorticotropic hormone negative feedback system and a secondary increase in adrenocorticotropic hormone levels, with subsequent shunting of adrenal steroidogenesis to the intact androgen pathway (11).…”