Disorders of Sexual Differentiation

Normal sexual development timeline, from Campbell's

DSD classification based on karyotype, Mullerian structures, palpable gonads, and progesterone level, from Campbell's

DSD classification based on karyotype and gonadal symmetry, from Campbell's

Evaluation/Management of Ambiguous Genitalia



Tenets of assigning gender

Germ cell tumor risk

Disorders of Gonadal Differentiation

Klinefelter syndrome (XXY)

46 XX male

Turner syndrome (X0)

Mixed gonadal dysgenesis (MGD)

Pure gonadal dysgenesis

Embryonic testicular regression + Bilateral vanishing testes syndromes

Prader classification of CAH, from Campbell's

46 XX DSD (masculinized female)

Congenital adrenal hyperplasia (CAH)

External hormone production

Classification of persistent Mullerian duct syndrome, from Campbell's

46 XY DSD (undermasculinized male)

Subcatigories of XY DSD

Leydig cell aplasia

Testosterone biosynthesis disorders

Androgen insensitivity syndrome

5a-reductase deficiency

Persistent Mullerian duct syndrome

Other DSD diagnoses

Ovotesticular DSD (true hermaphroditism)

Cloaca + Urogenital sinus