Supported Diseases
17-beta hydroxysteroid dehydrogenase 3 deficiency
Synonyms:
17 alpha ketosteroid reductase deficiency of testis, 17 alpha KSR deficiency, Neutral 17 beta hydroxysteroid oxidoreductase deficiency, Male pseudoherma-phroditism with gynecomastia, 17 beta hydroxysteroid dehydrogenase III deficiency
Androgen insensitivity syndrome
Synonyms:
AIS, Testicular feminization syndrome (formerly), DHTR deficiency, Androgen receptor deficiency, Dihydrotestosterone receptor deficiency
Anorchia
Synonyms:
Absence of testes, Empty scrotum, Congenital absence of testes, Bilateral anorchia, Testicular agenesis
Leydig cell hypoplasia
Synonyms:
46,XY disorder of sex development due to LH resistance or LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, Male pseudohermaphroditism due to LH resistance or LHB deficiency, Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, Leydig cell agenesis, 46,XY disorder of sex development due to LH defects, LH resistance due to LH receptor deactivation, Male hypergonadotropic hypogonadism due to LHCGR defect
Mullerian aplasia
Synonyms:
Mayer-Rokitansky-Küster-Hauser syndrome, Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), Congenital absence of the uterus and vagina (CAUV), MRKH syndrome, Rokitansky syndrome, Mullerian dysgenesis, Congenital absence of uterus and vagina, Müllerian agenesis, Genital renal ear syndrome
Partial androgen insensitivity syndrome
Synonyms:
Androgen insensitivity syndrome, partial, PAIS, Reifenstein syndrome, partial, Androgen resistance syndrome, partial, Androgen insensitivity, partial, with or without breast cancer
Persistent Müllerian duct syndrome
Synonyms:
Female genital ducts in otherwise normal male, Persistent mullerian duct syndrome, types 1 and 2, Hernia uteri inguinale, Persistent oviduct syndrome, PMDS
Swyer syndrome
Synonyms:
46, XY CGD, 46, XY complete gonadal dysgenesis, 46, XY pure gonadal dysgenesis, Gonadal dysgenesis, XY female type