Table 1 Clinical findings of three patients examined in this study

Karyotype

46,XY

46,XY

46,XY

Social sex

Male

Female → Male^a

Male

Present age

27 y 2 m

2 y 6 m

0 y 4 m

Age at examination

Infancy

6 m

1 m

Tanner stage

PH 1, G 1

PH 1, G 1

PH 1, G 1

Testis size (mL)

2 (Bilateral)

2 (Bilateral)

2 (Bilateral)

Hypospadias

+(Penoscrotal)

+(Penoscrotal)

+(Penoscrotal)

Cryptorchidism

+(Bilateral)

+(Bilateral)

—

Microphallus (PL, cm)

+(~2.0)

+(~2.3)

+(~1.2)

Abnormal scrotum

+(Bifid)

+(Hypoplastic)

+(Bifid)

Uterus/Vagina

…

Absent on MRI

Absent on MRI

Age at examination

18 y 11 m

Tanner stage

PH 5, G 3 (after Tx)^b

Testis size (mL)

5 (Right), 3–4 (Left)

Microphallus (PL, cm)

+(~2.8) (after Tx)^b

Uterus/Vagina

Absent on MRI

Age at examination

14 y 6 m

6 m

1 m

LH (IU/L)

12.8 → 58.1^c

1.9

0.4

FSH (IU/L)

24.0 → 35.6 ^c

2.8

1.1

Testosterone (nmol/L)

16.1 → 18.3^d

5.9

2.4 → 13.7^d

DHT (nmol/L)

0.9 → 1.0^d

1.9

0.6 → 2.3^d

Age at examination

18 y 11 m

10 m

3 m

LH (IU/L)

37.5

2.1 → 47.4^c

1.6

FSH (IU/L)

17.7

2.6 → 8.4^c

1.2

Testosterone (nmol/L)

18.4

8.8 → 30.4^d

9.8

DHT (nmol/L)

1.3

3.6 → 3.7^d

…

Orchidopexy (age)

Performed (5 y)

Performed (16 m)

Planned

Genitoplasty (age)

Performed (5 y)

Planned

Planned

Mastectomy (age)

Performed (14 y, 16 y)

…

…

TE (25 mg i.m.) (age)

>5× (14 y)

6× (13–24 m)

Planned

DHT cream (age)

>Six months (15 y)

Two months (2 y)

PL increment (cm)

~2.0 → ~2.8^e

~2.3 → ~2.8^e

<Gender role>

Male^f