Sex of rearing

Karyotype

Clinical presentation

Phenotype

Right gonad

Left gonad

Age at gonadectomy or gonadal biopsy

Spontaneous puberty

Case 1

Male

48 XXYY[33]/

46 XX[86]

Ambiguos genitalia at birth.

Unilateral right cryptorchidism, bifid scrotum, hypospadias.

UPB and LPB: Mature testicular tissue.

LPB: well differentiated ovary tissue.

2 months

-

Case 2

Female

46 XX[100]

Ambiguos genitalia at birth.

Bilateral cryptorchidism , hypospadias.

Ovotestes.

UPB: no gonadal tissue detected. LPB: testicular parenchyma.

1 month

-

Case 3

Female

46 XX[100]

Ambiguos genitalia at birth.

Unilateral right cryptorchidism, left gonad not palpable, hypospadias.

Immature testicular tissue.

Ovary tissue.

1 year 5 months

No, induced puberty at 10 years.

Case 4

Male

46 XY[70]/

46 XX[30]

Ambiguos genitalia at birth.

Non palpable gonads, hypospadias.

Ovotestes.

Ovary tissue.

1 year 8 months

No, induced puberty at 11 years.

Case 5

Male

46 XX

Ambiguos genitalia at birth.

Non palpable gonads, hypospadias.

Ovotestes.

Immature testicular tissue.

5 years

-

Case 6

Male

46 XX[51]/

46 XY[49]

Gynecomastia

Unilateral left cryptorchidism, hypospadias.

Mature ovaric tissue.

Mature testicular tissue.

10 years

Yes

Case 7

Male

46 XX[100]

Ambiguos genitalia at birth.

Gonads in scrotal pouch, hypospadias.

UPB: mature testicular tissue. LPB: Ovary tissue.

UPB: mature testicular tissue. LPB: Ovary tissue.

4 years

-

Case 8

Female

46 XX[30]

Ambiguos genitalia at birth.

Non palpable gonads, hypospadias.

Ovotestes.

Ovotestes.

7 months

-

Case 9

Male

46 XX

Ambiguos genitalia at birth.

Retractile left gonad, hypospadias.

Ovotestes.

Mature testicular tissue.

7 years 8 months

No, induced puberty at 14 years.