Version May 2024
| Disorder (MIM phenotype) | Gene | Protein | Inheritance | Gonad | Müllerian structures | Associated features/variant phenotypes |
| Adrenal overproduction of androgens (genes involved in adrenal hormone synthesis) | ||||||
| 21-alpha-hydroxylase deficiency (MIM #201910) | CYP21A2 | Enzyme (converts 17OHP to 11-deoxycortisol) | AR | Ovary | + | CAH; phenotypic spectrum from severe salt-losing forms associated with adrenal failure to simple virilizing forms with compensated adrenal function. 17OHP markedly elevated. |
| 11-beta-hydroxylase deficiency (MIM #202010) | CYP11B1 | Enzyme (converts 11-deoxycorticosterone to corticosterone and 11-deoxycortisol to cortisol) | AR | Ovary | + | CAH; hypertension caused by 11-deoxycortisol and 11-deoxycorticosterone. 17OHP often moderately elevated. |
| 3-beta-hydroxysteroid dehydrogenase type 2 deficiency (MIM #201810) | HSD3B2 | Enzyme (converts pregnenolone to progesterone, 17-hydroxypregnenolone to 17OHP, and DHEA to androstenedione) | AR | Ovary | + | CAH; primary adrenal insufficiency; partial virilization caused by DHEAS. 17-hydroxypregnenolone-to-cortisol ratio markedly elevated. 17OHP often moderately elevated. |
| P450 oxidoreductase deficiency (MIM #613571) (MIM #201750) | POR | Cofactor for 17-alpha-hydroxylase, 21-hydroxylase, and aromatase | AR | Ovary | + | CAH with combined features of 21-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, and aromatase deficiency. May be associated with craniosynostosis and limb abnormalities (Antley-Bixler syndrome). May cause mild maternal virilization during pregnancy. |
| Glucocorticoid resistance (atypical) (MIM #615962) | NR3C1 (glucocorticoid receptor) | Nuclear receptor TF | AR | Ovary | + | Elevated adrenocorticotropin, 17OHP, and cortisol; inadequate suppression by dexamethasone. |
| Gonadal overproduction of androgens (XX testicular or ovotesticular DSD) due to mutations involved in gonadal (ovarian) development | ||||||
| 46,XX testicular/ovotesticular DSD, SRY-positive (MIM #400045) | SRY (sex-determining region on the Y chromosome) | TF | Translocation | Testis or ovotestis | – | Presence of SRY in an XX individual (eg, due to translocation to the X chromosome) activates testicular pathways in the developing gonad. |
| NR5A1 mutation (MIM #617480) | NR5A1 (SF1) | TF | AD | Testis or ovotestis | +/– | NR5A1 (SF1) mediates gonadal development and testicular differentiation, and NR5A1 variants are responsible for 10 to 15% of XX testicular or ovotesticular DSD. |
| SOX9 overexpression (MIM #278850) | SOX9M | TF | dup17q24 | Not determined | – | SOX9 encodes a transcription factor that is both necessary and sufficient for testicular development. |
| SOX3 overexpression (MIM #300833) | SOX3 | TF | Duplication | Testis | Inappropriate expression of SOX3 activates testicular pathways in the developing gonad. | |
| WNT4 deficiency (MIM #611812) | WNT4 | Signaling molecule | AR | SERKAL syndrome ("sex reversal" with dysgenesis of kidneys, adrenals, and lungs). | ||
| RSPO1 deficiency (MIM #610644) | RSPO1 | Regulator of WNT signaling | Palmoplantar keratosis. | |||
| Ovarian overproduction of androgens | ||||||
| Aromatase deficiency (MIM #613546) | CYP19A1 | Enzyme (converts androgens to estrogens) | AR | Ovary | + | Maternal virilization during pregnancy due to deficiency in placental aromatase. Absent breast development in offspring at puberty, except in partial cases. |
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