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

Genital Appearance Karyotype Gonads Diagnosis
Female 46 XY Testis Complete androgen insensitivity syndrome
5a-reductase deficiency
StAR deficiency
Absent Absent testis
Streak Swyer syndrome
45 X0 Turner Syndrome
Male 46 XX Testis 46 XX with SRY+
46 XY Persistent mullerian duct syndrome
47 XXY Klinefelter syndrome
Ambiguous 46 XX Testis 46 XX testicular DSD, SRY-
Ovary 11B-Hydroxylase deficiency
Excess maternal androgens
21a-Hydroxylase deficiency
3B-HSD deficiency
46 XY Testis 3B-HSD deficiency
17B-HSD deficiency
17-20 Desmolase deficiency
17a-Hydroxylase deficiency
Partial androgen insensitivity syndrome
Leydig cell hypoplasia
46 XY / 46 X Testis and streak Mixed gonadal dysgenesis
46 XX, 46 XY, 46 XX / 46 XY Testis and ovotestis Ovotesticular DSD

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